| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia
|
Akamine, Satoshi
|
|
|
61 |
8 |
p. 451-454
|
article
|
| 2 |
Editorial Board
|
|
|
|
61 |
8 |
p. ii
|
article
|
| 3 |
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia
|
Moortgat, Stéphanie
|
|
|
61 |
8 |
p. 442-450
|
article
|
| 4 |
Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome
|
Bayat, Allan
|
|
|
61 |
8 |
p. 473-477
|
article
|
| 5 |
Pitfalls in molecular diagnosis of Friedreich ataxia
|
Barcia, Giulia
|
|
|
61 |
8 |
p. 455-458
|
article
|
| 6 |
Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity
|
Dehghani, Mohammad Reza
|
|
|
61 |
8 |
p. 465-467
|
article
|
| 7 |
15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia
|
Huynh, Minh-Tuan
|
|
|
61 |
8 |
p. 459-464
|
article
|
| 8 |
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature
|
Heldt, Frederik
|
|
|
61 |
8 |
p. 421-427
|
article
|
| 9 |
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region
|
Tassano, Elisa
|
|
|
61 |
8 |
p. 428-433
|
article
|
| 10 |
Speech and language delay in a patient with WDR4 mutations
|
Chen, Xiang
|
|
|
61 |
8 |
p. 468-472
|
article
|
| 11 |
Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy
|
Zhou, Nianwei
|
|
|
61 |
8 |
p. 434-441
|
article
|
Journal description