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                             61 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic Enomoto, Yutaka
63 4 p.
 artikel
2 A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia Champagne, Marjolaine
63 4 p.
 artikel
3 A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy Vetri, Luigi
63 4 p.
 artikel
4 Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services Suddaby, Jessica S.
63 4 p.
 artikel
5 An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease Arya, Priyanka
63 4 p.
 artikel
6 A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy Faudi, Emilien
63 4 p.
 artikel
7 A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability Häusler, Martin G.
63 4 p.
 artikel
8 A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features Cheraghi, Sara
63 4 p.
 artikel
9 A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum Zhang, Ting
63 4 p.
 artikel
10 A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder Thompson, Miles D.
63 4 p.
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11 A 14q distal chromoanagenesis elucidated by whole genome sequencing Ader, Flavie
63 4 p.
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12 A review of the legislation of direct-to-consumer genetic testing in EU member states Hoxhaj, Ilda
63 4 p.
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13 A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum Durand, Benjamin
63 4 p.
 artikel
14 A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome Permanyer, Eduard
63 4 p.
 artikel
15 Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France Titerlea, Vlad
63 4 p.
 artikel
16 CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers Mio, Catia
63 4 p.
 artikel
17 Cancer screening in adults with down syndrome, a proposal Rethoré, Marie-Odile
63 4 p.
 artikel
18 Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support Zelihić, Deniz
63 4 p.
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19 Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4 Nilay Güneş,
63 4 p.
 artikel
20 De novo copy number variants and parental age: Is there an association? Wadhawan, Isha
63 4 p.
 artikel
21 De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature Kinoshita, Keishiro
63 4 p.
 artikel
22 DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability Schirwani, Schaida
63 4 p.
 artikel
23 Editorial Board
63 4 p.
 artikel
24 EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities Shaw, Marie
63 4 p.
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25 Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features Fukuda, Tokiko
63 4 p.
 artikel
26 Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations Holtz, Alexander M.
63 4 p.
 artikel
27 Familial hypercholesterolemia: A complex genetic disease with variable phenotypes Di Taranto, Maria Donata
63 4 p.
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28 Fraser syndrome without cryptophthalmos: Two cases Boussion, S.
63 4 p.
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29 From sub-microscopic variants to the resolution of a single base pair: Exome sequencing in prenatal diagnosis He, Ping
63 4 p.
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30 Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature Nagy, Dóra
63 4 p.
 artikel
31 Genes dysregulated in the blood of people with Williams syndrome are enriched in protein-coding genes positively selected in humans Benítez-Burraco, Antonio
63 4 p.
 artikel
32 Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism Gupta, Aditi
63 4 p.
 artikel
33 Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance Casano, Kelsey
63 4 p.
 artikel
34 Hereditary spastic paraplegia masqueraded by congenital melanocytic nevus syndrome: Dual pathogenesis of germline non-mosaicism and somatic mosaicism Sakaguchi, Yuri
63 4 p.
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35 21-Hydroxylase deficiency: Mutational spectrum and Genotype–Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification Turan, Ihsan
63 4 p.
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36 Identification and functional characterization of KLF5 as a novel disease gene responsible for familial dilated cardiomyopathy Di, Ruo-Min
63 4 p.
 artikel
37 Identification of novel microsatellite markers flanking GJB2 gene in order to use in preimplantation genetic diagnosis of hearing loss: A comparison of whole-genome amplification and semi-nested PCR Tabatabaei, Zahra
63 4 p.
 artikel
38 Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene Gafner, Michal
63 4 p.
 artikel
39 Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management Menzies, Lara
63 4 p.
 artikel
40 Is height important for quality of life in children with skeletal dysplasias? Lorne, Hortense
63 4 p.
 artikel
41 Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures Slavotinek, Anne
63 4 p.
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42 Letter regarding the article: “Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion” van der Sluijs, P.J. (Eline)
63 4 p.
 artikel
43 Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene? Smol, Thomas
63 4 p.
 artikel
44 Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets Duzkale, Neslihan
63 4 p.
 artikel
45 Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation De Graer, Celine
63 4 p.
 artikel
46 Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis Lecoquierre, François
63 4 p.
 artikel
47 PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features Lee, Cha Gon
63 4 p.
 artikel
48 Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin A nephropathy Balci, Sibel
63 4 p.
 artikel
49 Placental mosaicism in the era of chromosomal microarrays Vogel, Ida
63 4 p.
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50 Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature Stutterd, Chloe A.
63 4 p.
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51 Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B Saugier-Veber, Pascale
63 4 p.
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52 Renal and brain complications in GLA p.Phe113Leu Fabry disease. Comments on “Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males” by Oliveira et al. (Eur. J. Med. Genet. 2019) Smirnova, Alexandra
63 4 p.
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53 Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1 Prudhomme, L.
63 4 p.
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54 Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings Mastromoro, Gioia
63 4 p.
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55 Split hand/foot malformation associated with 20p12.1 deletion: A case report Ruaud, Lyse
63 4 p.
 artikel
56 Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype Takano, Takako
63 4 p.
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57 The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome Larcher, Lise
63 4 p.
 artikel
58 The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature Levy-Shraga, Yael
63 4 p.
 artikel
59 The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families Dardas, Zain
63 4 p.
 artikel
60 Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability Banihashemi, Sara
63 4 p.
 artikel
61 Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion Dosekova, Petra
63 4 p.
 artikel
                             61 gevonden resultaten
 
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