nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('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. |
artikel |
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. |
artikel |
3 |
BRCA1/2 missense mutations and the value of in-silico analyses
|
Sadowski, Carolin E. |
|
2017 |
60 |
11 |
p. 572-577 6 p. |
artikel |
4 |
Early fetal presentation of Koolen-de Vries: Case report with literature review
|
Sauvestre, Fanny |
|
2017 |
60 |
11 |
p. 605-609 5 p. |
artikel |
5 |
Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation
|
Marquet, Valentine |
|
2017 |
60 |
11 |
p. 583-588 6 p. |
artikel |
6 |
Human imprinting disorders: Principles, practice, problems and progress
|
Mackay, Deborah J.G. |
|
2017 |
60 |
11 |
p. 618-626 9 p. |
artikel |
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. |
artikel |
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. |
artikel |
9 |
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
|
Bourchany, Aurélie |
|
2017 |
60 |
11 |
p. 595-604 10 p. |
artikel |