| 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
|
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