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 |