no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
1 |
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset
|
Cabet, Sara |
|
2019 |
62 |
10 |
p. |
article |
2 |
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases
|
Isik, Esra |
|
2019 |
62 |
10 |
p. |
article |
3 |
Congenital Sodium Diarrhea by mutation of the SLC9A3 gene
|
Dimitrov, Georges |
|
2019 |
62 |
10 |
p. |
article |
4 |
Early-onset stroke in two siblings with Neurofibromatosis type 1
|
Rukavina, Katarina |
|
2019 |
62 |
10 |
p. |
article |
5 |
Editorial Board
|
|
|
2019 |
62 |
10 |
p. |
article |
6 |
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss
|
Hofrichter, Michaela A.H. |
|
2019 |
62 |
10 |
p. |
article |
7 |
Molecular genetic study of 59 Chinese Oculocutaneous albinism families
|
Luo, Dan |
|
2019 |
62 |
10 |
p. |
article |
8 |
Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review
|
Wang, Chao |
|
2019 |
62 |
10 |
p. |
article |
9 |
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome
|
Laterza, Domenico |
|
2019 |
62 |
10 |
p. |
article |
10 |
Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives
|
Houdayer, F. |
|
2019 |
62 |
10 |
p. |
article |
11 |
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis
|
Ben-David, Yael |
|
2019 |
62 |
10 |
p. |
article |
12 |
Why systematic literature reviews in Fabry disease should include all published evidence
|
Elliott, Perry M. |
|
2019 |
62 |
10 |
p. |
article |