| 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
|
Journal description