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                             162 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships Matas-Nadal, C.
11 p.
 artikel
2 Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy Naim, Alessandro
11 p.
 artikel
3 A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype Kekis, Mariana
 2016
 11 p. 569-572
4 p.
 artikel
4 A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings Glaeser, Andressa Barreto
11 p.
 artikel
5 Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease Ozyavuz Cubuk, Pelin
11 p.
 artikel
6 Adaptation and preliminary validation of the genetic counseling outcome scale (GCOS-24) in a Brazilian genetic counseling setting Segundo-Ribeiro, Mayara
11 p.
 artikel
7 A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).” Harrer, Philip
11 p.
 artikel
8 A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome Chen, Chih-Ping
 2012
 11 p. 666-669
4 p.
 artikel
9 A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia Song, Cui
 2019
 11 p.
 artikel
10 Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene Takano, Takako
11 p.
 artikel
11 A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state Freitas, Érika L.
 2012
 11 p. 660-665
6 p.
 artikel
12 A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants Mancini, Cecilia
 2019
 11 p.
 artikel
13 A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature Unterberger, Iris
 2019
 11 p.
 artikel
14 A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death Penque, Brent A.
 2019
 11 p.
 artikel
15 A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2 Siomou, Elisavet
 2012
 11 p. 641-645
5 p.
 artikel
16 Altered level of plasma exosomes in patients with Gaucher disease Tatiana, Shtam
11 p.
 artikel
17 Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child Streff, Haley
 2019
 11 p.
 artikel
18 An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment Pebrel-Richard, Céline
 2012
 11 p. 650-655
6 p.
 artikel
19 A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome Sharkia, Rajech
 2019
 11 p.
 artikel
20 A novel ARX loss of function variant in female monozygotic twins is associated with chorea Rodgers, Jonathan
11 p.
 artikel
21 A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features Preiksaitiene, E.
 2012
 11 p. 656-659
4 p.
 artikel
22 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration Pérez-González, E.A.
 2013
 11 p. 606-608
3 p.
 artikel
23 A novel homozygous KY variant causing a complex neurological disorder Arif, Beenish
11 p.
 artikel
24 A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review Zhu, Ze-yu
11 p.
 artikel
25 A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females Hussain, Shah
11 p.
 artikel
26 A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus Mutlu, Mehmet Burak
 2016
 11 p. 604-606
3 p.
 artikel
27 A novel mutation in CDMP1 causes brachydactyly type C with “angel-shaped phalanx”. A genotype–phenotype correlation in the mutational spectrum Gutiérrez-Amavizca, Bianca Ethel
 2012
 11 p. 611-614
4 p.
 artikel
28 A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome Jamshidi, Javad
 2017
 11 p. 578-582
5 p.
 artikel
29 A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) Mégarbané, André
 2019
 11 p.
 artikel
30 An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency Sakka, Rim
11 p.
 artikel
31 AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range Salayev, Kamran
11 p.
 artikel
32 A previously identified missense mutation in STYXL1 is likely benign Hengel, Holger
 2019
 11 p.
 artikel
33 A severe case of status dystonicus caused by a de novo KMT2B missense mutation Nakamura, Sadao
11 p.
 artikel
34 Associated anomalies in cases with achondroplasia Stoll, Claude
11 p.
 artikel
35 A structured assessment of motor function, behavior, and communication in patients with Wolf–Hirschhorn syndrome Nag, Heidi E.
 2017
 11 p. 610-617
8 p.
 artikel
36 A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation Suzuki, Shigeru
11 p.
 artikel
37 A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia Diomedi, Marina
 2016
 11 p. 564-568
5 p.
 artikel
38 A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype Fontana, Paolo
11 p.
 artikel
39 Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome Chiu, Annie T.G.
 2016
 11 p. 573-576
4 p.
 artikel
40 Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder Mohammed, Mohammed
 2019
 11 p.
 artikel
41 Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity Dursun, Ali
11 p.
 artikel
42 Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion Vucurovic, Ksenija
 2012
 11 p. 625-629
5 p.
 artikel
43 Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female Alao, M.J.
 2012
 11 p. 630-634
5 p.
 artikel
44 BRCA1/2 missense mutations and the value of in-silico analyses Sadowski, Carolin E.
 2017
 11 p. 572-577
6 p.
 artikel
45 “Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma” Cárcamo, Benjamín
11 p.
 artikel
46 Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies” Cung, Winnie
 2015
 11 p. 584-590
7 p.
 artikel
47 Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers–Danlos syndrome Makrygiannis, Georgios
 2015
 11 p. 634-636
3 p.
 artikel
48 Challenges of preconception genetic testing in France: A qualitative study Hoarau, Eugénie
11 p.
 artikel
49 Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype Piccini, Barbara
 2016
 11 p. 590-595
6 p.
 artikel
50 Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype Rittinger, Olaf
 2015
 11 p. 603-607
5 p.
 artikel
51 Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience Gumus, Ersin
11 p.
 artikel
52 Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant Kirino, Shizuka
11 p.
 artikel
53 Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases Balduini, Alessandra
 2018
 11 p. 715-722
 artikel
54 Cognitive behavioral therapy in 22q11.2 microdeletion with psychotic symptoms: What do we learn from schizophrenia? Demily, Caroline
 2016
 11 p. 596-603
8 p.
 artikel
55 Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency Perche, Olivier
 2013
 11 p. 635-641
7 p.
 artikel
56 Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation Hadouiri, Nawale
11 p.
 artikel
57 Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts Raymond, Laure
 2015
 11 p. 591-596
6 p.
 artikel
58 Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis Shimojima, Keiko
 2016
 11 p. 559-563
5 p.
 artikel
59 Congenital disorders of glycosylation (CDG): Quo vadis? Péanne, Romain
 2018
 11 p. 643-663
 artikel
60 Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy Passariello, Annalisa
 2013
 11 p. 626-634
9 p.
 artikel
61 C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia Isik, Esra
11 p.
 artikel
62 Corrigendum to “ATP7B variant spectrum in a French pediatric Wilson disease cohort” [Eur. J. Med. Genet. 64(10) (2021) 104305] Couchonnal, Eduardo
11 p.
 artikel
63 COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience Altassan, Ruqaiah
11 p.
 artikel
64 Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome Peikert, Kevin
 2018
 11 p. 699-705
 artikel
65 Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature La Fay, Charlotte
11 p.
 artikel
66 Description of another case of 3q26.33-3q27.2 microdeletion supports a recognizable phenotype Zarate, Yuri A.
 2013
 11 p. 624-625
2 p.
 artikel
67 Description of a novel patient with the TRPM3 recurrent p.Val837Met variant Gauthier, Lucas W
11 p.
 artikel
68 Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome Helenius, Kjell
11 p.
 artikel
69 Disclosing genetic information to family members without consent: Five Australian case studies Tiller, Jane
11 p.
 artikel
70 Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11 Reinson, Karit
 2019
 11 p.
 artikel
71 Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly Luo, Hong
 2012
 11 p. 646-649
4 p.
 artikel
72 Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort Sun, Shuzhen
11 p.
 artikel
73 Early fetal presentation of Koolen-de Vries: Case report with literature review Sauvestre, Fanny
 2017
 11 p. 605-609
5 p.
 artikel
74 Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1 Mbwasi, Ronald M.
11 p.
 artikel
75 Editorial Board
11 p.
 artikel
76 Editorial Board 2018
 11 p. ii
 artikel
77 Editorial Board 2019
 11 p.
 artikel
78 Editorial Board
11 p.
 artikel
79 Editorial Board
11 p.
 artikel
80 Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases Li, Xiyuan
 2015
 11 p. 617-623
7 p.
 artikel
81 Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families Dourado, Mauricio Rocha
 2019
 11 p.
 artikel
82 Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant Chia, Shi Yun
11 p.
 artikel
83 Excess of RALGAPB de novo variants in neurodevelopmental disorders Shah, Abid Ali
11 p.
 artikel
84 Exome sequencing in a patient with Catel–Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate Stanghellini, Ilaria
 2015
 11 p. 597-602
6 p.
 artikel
85 Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Dailey, Christina
11 p.
 artikel
86 Expanding the phenotype of IFAP/BRESECK syndrome: A new case with severe hypogammaglobulinemia Corujeira, Susana
 2013
 11 p. 603-605
3 p.
 artikel
87 Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes Neri, Sabrina
11 p.
 artikel
88 Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation Marquet, Valentine
 2017
 11 p. 583-588
6 p.
 artikel
89 Familial Turner syndrome with an X;Y translocation mosaicism: Implications for genetic counseling Portnoï, Marie-France
 2012
 11 p. 635-640
6 p.
 artikel
90 First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood Alstrup, Morten
11 p.
 artikel
91 FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy Grudzinska Pechhacker, Monika K.
11 p.
 artikel
92 Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome Dery, Tania
11 p.
 artikel
93 FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency Boda, Hiroko
 2019
 11 p.
 artikel
94 Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2 Fjaer, Roar
 2015
 11 p. 624-628
5 p.
 artikel
95 Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study Aghajanyan, Anna
 2019
 11 p.
 artikel
96 Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly Aerden, Mio
11 p.
 artikel
97 Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients Gürbüz, Berrak Bilginer
11 p.
 artikel
98 Haplotype analysis of α-thalassemia chromosomes reveals heterogeneity and multiple founders in Ashkenazi Jews Shaulov, Adir
 2016
 11 p. 555-558
4 p.
 artikel
99 Harmonising phenomics information for a better interoperability in the rare disease field Maiella, Sylvie
 2018
 11 p. 706-714
 artikel
100 Human imprinting disorders: Principles, practice, problems and progress Mackay, Deborah J.G.
 2017
 11 p. 618-626
9 p.
 artikel
101 Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia Daoud, Hussein
 2015
 11 p. 573-577
5 p.
 artikel
102 Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1 Haghighi, Amirreza
 2012
 11 p. 620-624
5 p.
 artikel
103 Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy Salinas, Valeria
 2019
 11 p.
 artikel
104 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 Bedeschi, Maria Francesca
 2017
 11 p. 565-571
7 p.
 artikel
105 Improved molecular platform for the gene therapy of rare diseases by liver protein secretion Quiviger, Mickael
 2018
 11 p. 723-728
 artikel
106 Inherited Metabolic Disorders in Adults: A view from Saudi Arabia Sulaiman, Raashda A.
 2019
 11 p.
 artikel
107 Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies Willemsen, Marjolein H.
 2012
 11 p. 586-598
13 p.
 artikel
108 Intrafamilial variability of XYLT2-related spondyloocular syndrome Guleray, Naz
 2019
 11 p.
 artikel
109 ISL1 loss-of-function variation causes familial atrial fibrillation Wu, Shao-Hui
11 p.
 artikel
110 Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion Bonaglia, Maria Clara
11 p.
 artikel
111 LSM1 is the new candidate gene for neurodevelopmental disorder Kok Kilic, Gizem
11 p.
 artikel
112 MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation Pfau, Ruthann B.
 2013
 11 p. 609-613
5 p.
 artikel
113 Microdeletion 8q22.2-q22.3 in a 40-year-old male Sinajon, Pierre
 2015
 11 p. 569-572
4 p.
 artikel
114 Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience Da Costa, Lydie
 2018
 11 p. 664-673
 artikel
115 Molecular autopsy and subsequent functional analysis reveal de novo DSG2 mutation as cause of sudden death Simons, Eline
11 p.
 artikel
116 Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia Molin, Arnaud
 2019
 11 p.
 artikel
117 Molecular genetic characterization of Congolese patients with oculocutaneous albinism Mavinga, Laetitia Mpola
11 p.
 artikel
118 Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype Santos-Simarro, Fernando
11 p.
 artikel
119 Mutational analysis of the human MESP1 gene in patients with congenital heart disease reveals a highly variable sequence in exon 1 Lahm, Harald
 2013
 11 p. 591-598
8 p.
 artikel
120 Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation Buchert, Rebecca
 2013
 11 p. 599-602
4 p.
 artikel
121 Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions Kamien, Benjamin
 2015
 11 p. 629-633
5 p.
 artikel
122 Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature Ziats, Catherine A.
11 p.
 artikel
123 Neurological features and long-term follow-up in 15q11.2-13.1 duplication Coppola, Antonietta
 2013
 11 p. 614-618
5 p.
 artikel
124 Non lethal Raine syndrome and differential diagnosis Elalaoui, Siham Chafai
 2016
 11 p. 577-583
7 p.
 artikel
125 Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect Huang, Shufang
11 p.
 artikel
126 Novel mosaic variants in two patients with Cornelia de Lange syndrome Pozojevic, Jelena
 2018
 11 p. 680-684
 artikel
127 Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches Illsinger, Sabine
11 p.
 artikel
128 Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development Bowerman, Melissa
 2018
 11 p. 685-698
 artikel
129 Pathophysiology of premature aging characteristics in Mendelian progeroid disorders Hennekam, Raoul C.M.
11 p.
 artikel
130 Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature Lesieur-Sebellin, Marion
11 p.
 artikel
131 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature Caselli, Rossella
 2015
 11 p. 578-583
6 p.
 artikel
132 Polyglutamined expanded androgen receptor interacts with chaperonin CCT Pongtepaditep, Suttikarn
 2012
 11 p. 599-604
6 p.
 artikel
133 Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function? Boivin, Manon
 2018
 11 p. 674-679
 artikel
134 Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects Hassan, Maaz
 2016
 11 p. 584-589
6 p.
 artikel
135 Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature Papamichail, Maria
11 p.
 artikel
136 Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray Stipoljev, Feodora
 2017
 11 p. 589-594
6 p.
 artikel
137 PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review Mercati, Oriane
11 p.
 artikel
138 15q11.2 microdeletion and hypoplastic left heart syndrome Barone, Chiara
 2015
 11 p. 608-610
3 p.
 artikel
139 12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome Poisson, Alice
 2019
 11 p.
 artikel
140 Rare variants of primary liver cancer: Fibrolamellar, combined, and sarcomatoid hepatocellular carcinomas Wege, Henning
11 p.
 artikel
141 Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes Kausar, Mehran
 2019
 11 p.
 artikel
142 Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses Bourchany, Aurélie
 2017
 11 p. 595-604
10 p.
 artikel
143 Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4 Fedida, Ayalla
11 p.
 artikel
144 Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) – A case report and review of congenital heart defects reported in the human ciliopathies Karp, Natalya
 2012
 11 p. 605-610
6 p.
 artikel
145 Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants Caengprasath, Natarin
11 p.
 artikel
146 Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants Isrie, M.
 2012
 11 p. 577-585
9 p.
 artikel
147 Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome Leegaard, Anne
11 p.
 artikel
148 Targeted re-sequencing in pediatric and perinatal stroke Grossi, Alice
11 p.
 artikel
149 The external phenotype of aging Hennekam, Raoul C.M.
11 p.
 artikel
150 The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study Roux-Levy, Pierre-Henri
11 p.
 artikel
151 The psychological impact of cryptic chromosomal abnormalities diagnosis announcement Houdayer, Françoise
 2013
 11 p. 585-590
6 p.
 artikel
152 The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments Felzen, Antonia
11 p.
 artikel
153 TNFα −857 C/T and TNFR2 +587 T/G polymorphisms are associated with cystic fibrosis in Iranian patients Hassanzad, Maryam
 2019
 11 p.
 artikel
154 TRIT1 deficiency: Two novel patients with four novel variants Smol, Thomas
11 p.
 artikel
155 TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts Uchiyama, Hiroki
11 p.
 artikel
156 Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D Lorenz, Sybille
 2012
 11 p. 615-619
5 p.
 artikel
157 Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature Hassib, Nehal F.
11 p.
 artikel
158 UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report Zhang, Guiping
11 p.
 artikel
159 Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy Lopes, L.R.
 2015
 11 p. 611-616
6 p.
 artikel
160 X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant Kraatari, Minna
11 p.
 artikel
161 46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1 Brandt, Tracy
 2013
 11 p. 619-623
5 p.
 artikel
162 Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project Lewis, Celine
11 p.
 artikel
                             162 gevonden resultaten
 
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