nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy
|
Sekiguchi, Kazuhito |
|
2018 |
61 |
6 |
p. 312-314 |
artikel |
2 |
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria
|
AlTassan, Ruqaiah |
|
2018 |
61 |
6 |
p. 307-311 |
artikel |
3 |
Editorial Board
|
|
|
2018 |
61 |
6 |
p. ii |
artikel |
4 |
First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome
|
Huynh, Minh-Tuan |
|
2018 |
61 |
6 |
p. 322-328 |
artikel |
5 |
Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre
|
Rodrigues, Jorge |
|
2018 |
61 |
6 |
p. 341-347 |
artikel |
6 |
Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain)
|
Sánchez-Bermúdez, Ana Isabel |
|
2018 |
61 |
6 |
p. 355-361 |
artikel |
7 |
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants
|
Bierhals, Tatjana |
|
2018 |
61 |
6 |
p. 329-334 |
artikel |
8 |
Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations
|
Noordman, Iris |
|
2018 |
61 |
6 |
p. 301-306 |
artikel |
9 |
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
|
Errichiello, Edoardo |
|
2018 |
61 |
6 |
p. 335-340 |
artikel |
10 |
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype
|
Paderova, Jana |
|
2018 |
61 |
6 |
p. 315-321 |
artikel |
11 |
Waardenburg syndrome: Novel mutations in a large Brazilian sample
|
Bocángel, Magnolia Astrid Pretell |
|
2018 |
61 |
6 |
p. 348-354 |
artikel |