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                             21 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia Song, Cui
2019
62 11 p.
artikel
2 A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants Mancini, Cecilia
2019
62 11 p.
artikel
3 A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature Unterberger, Iris
2019
62 11 p.
artikel
4 A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death Penque, Brent A.
2019
62 11 p.
artikel
5 Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child Streff, Haley
2019
62 11 p.
artikel
6 A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome Sharkia, Rajech
2019
62 11 p.
artikel
7 A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) Mégarbané, André
2019
62 11 p.
artikel
8 A previously identified missense mutation in STYXL1 is likely benign Hengel, Holger
2019
62 11 p.
artikel
9 Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder Mohammed, Mohammed
2019
62 11 p.
artikel
10 Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11 Reinson, Karit
2019
62 11 p.
artikel
11 Editorial Board 2019
62 11 p.
artikel
12 Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families Dourado, Mauricio Rocha
2019
62 11 p.
artikel
13 FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency Boda, Hiroko
2019
62 11 p.
artikel
14 Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study Aghajanyan, Anna
2019
62 11 p.
artikel
15 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
62 11 p.
artikel
16 Inherited Metabolic Disorders in Adults: A view from Saudi Arabia Sulaiman, Raashda A.
2019
62 11 p.
artikel
17 Intrafamilial variability of XYLT2-related spondyloocular syndrome Guleray, Naz
2019
62 11 p.
artikel
18 Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia Molin, Arnaud
2019
62 11 p.
artikel
19 12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome Poisson, Alice
2019
62 11 p.
artikel
20 Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes Kausar, Mehran
2019
62 11 p.
artikel
21 TNFα −857 C/T and TNFR2 +587 T/G polymorphisms are associated with cystic fibrosis in Iranian patients Hassanzad, Maryam
2019
62 11 p.
artikel
                             21 gevonden resultaten
 
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