| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy
|
Sekiguchi, Kazuhito
|
|
2018
|
61 |
6 |
p. 312-314
|
article
|
| 2 |
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria
|
AlTassan, Ruqaiah
|
|
2018
|
61 |
6 |
p. 307-311
|
article
|
| 3 |
Editorial Board
|
|
|
2018
|
61 |
6 |
p. ii
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 7 |
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants
|
Bierhals, Tatjana
|
|
2018
|
61 |
6 |
p. 329-334
|
article
|
| 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
|
article
|
| 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
|
article
|
| 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
|
article
|
| 11 |
Waardenburg syndrome: Novel mutations in a large Brazilian sample
|
Bocángel, Magnolia Astrid Pretell
|
|
2018
|
61 |
6 |
p. 348-354
|
article
|
Journal description