| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome
|
Jamshidi, Javad
|
|
2017
|
60 |
11 |
p. 578-582
5 p.
|
article
|
| 2 |
A structured assessment of motor function, behavior, and communication in patients with Wolf–Hirschhorn syndrome
|
Nag, Heidi E.
|
|
2017
|
60 |
11 |
p. 610-617
8 p.
|
article
|
| 3 |
BRCA1/2 missense mutations and the value of in-silico analyses
|
Sadowski, Carolin E.
|
|
2017
|
60 |
11 |
p. 572-577
6 p.
|
article
|
| 4 |
Early fetal presentation of Koolen-de Vries: Case report with literature review
|
Sauvestre, Fanny
|
|
2017
|
60 |
11 |
p. 605-609
5 p.
|
article
|
| 5 |
Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation
|
Marquet, Valentine
|
|
2017
|
60 |
11 |
p. 583-588
6 p.
|
article
|
| 6 |
Human imprinting disorders: Principles, practice, problems and progress
|
Mackay, Deborah J.G.
|
|
2017
|
60 |
11 |
p. 618-626
9 p.
|
article
|
| 7 |
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4
|
Bedeschi, Maria Francesca
|
|
2017
|
60 |
11 |
p. 565-571
7 p.
|
article
|
| 8 |
Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray
|
Stipoljev, Feodora
|
|
2017
|
60 |
11 |
p. 589-594
6 p.
|
article
|
| 9 |
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
|
Bourchany, Aurélie
|
|
2017
|
60 |
11 |
p. 595-604
10 p.
|
article
|
Journal description