| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant
|
Caswell, Richard C.
|
|
|
66 |
6 |
p.
|
article
|
| 2 |
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome
|
Matuleviciene, Ausra
|
|
|
66 |
6 |
p.
|
article
|
| 3 |
Consensus recommendations on Epilepsy in Phelan-McDermid syndrome
|
de Coo, Irenaeus F.M.
|
|
|
66 |
6 |
p.
|
article
|
| 4 |
Consensus recommendations on lymphedema in Phelan-McDermid syndrome
|
Damstra, Robert J.
|
|
|
66 |
6 |
p.
|
article
|
| 5 |
Consensus recommendations on mental health issues in Phelan-McDermid syndrome
|
van Balkom, Ingrid D.C.
|
|
|
66 |
6 |
p.
|
article
|
| 6 |
Consensus recommendations on sleeping problems in Phelan-McDermid syndrome
|
San José Cáceres, A.
|
|
|
66 |
6 |
p.
|
article
|
| 7 |
Editorial Board
|
|
|
|
66 |
6 |
p.
|
article
|
| 8 |
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis
|
Bulut, Fatma Derya
|
|
|
66 |
6 |
p.
|
article
|
| 9 |
Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data
|
Zlotogora, Joël
|
|
|
66 |
6 |
p.
|
article
|
| 10 |
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent
|
Das, Sweta
|
|
|
66 |
6 |
p.
|
article
|
| 11 |
Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review
|
Zhong, Fazhan
|
|
|
66 |
6 |
p.
|
article
|
| 12 |
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples
|
Mary, L.
|
|
|
66 |
6 |
p.
|
article
|
| 13 |
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases
|
Farnè, Marianna
|
|
|
66 |
6 |
p.
|
article
|
| 14 |
The non-coding genome in Autism Spectrum Disorders
|
Dominguez-Alonso, S.
|
|
|
66 |
6 |
p.
|
article
|
| 15 |
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review
|
Sanri, Aslihan
|
|
|
66 |
6 |
p.
|
article
|
Journal description