nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant
|
Caswell, Richard C. |
|
|
66 |
6 |
p. |
artikel |
2 |
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome
|
Matuleviciene, Ausra |
|
|
66 |
6 |
p. |
artikel |
3 |
Consensus recommendations on Epilepsy in Phelan-McDermid syndrome
|
de Coo, Irenaeus F.M. |
|
|
66 |
6 |
p. |
artikel |
4 |
Consensus recommendations on lymphedema in Phelan-McDermid syndrome
|
Damstra, Robert J. |
|
|
66 |
6 |
p. |
artikel |
5 |
Consensus recommendations on mental health issues in Phelan-McDermid syndrome
|
van Balkom, Ingrid D.C. |
|
|
66 |
6 |
p. |
artikel |
6 |
Consensus recommendations on sleeping problems in Phelan-McDermid syndrome
|
San José Cáceres, A. |
|
|
66 |
6 |
p. |
artikel |
7 |
Editorial Board
|
|
|
|
66 |
6 |
p. |
artikel |
8 |
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis
|
Bulut, Fatma Derya |
|
|
66 |
6 |
p. |
artikel |
9 |
Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data
|
Zlotogora, Joël |
|
|
66 |
6 |
p. |
artikel |
10 |
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent
|
Das, Sweta |
|
|
66 |
6 |
p. |
artikel |
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. |
artikel |
12 |
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples
|
Mary, L. |
|
|
66 |
6 |
p. |
artikel |
13 |
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases
|
Farnè, Marianna |
|
|
66 |
6 |
p. |
artikel |
14 |
The non-coding genome in Autism Spectrum Disorders
|
Dominguez-Alonso, S. |
|
|
66 |
6 |
p. |
artikel |
15 |
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review
|
Sanri, Aslihan |
|
|
66 |
6 |
p. |
artikel |