nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A case of splenomegaly in CBL syndrome
|
Coe, Rachel R. |
|
2017 |
60 |
7 |
p. 374-379 6 p. |
artikel |
2 |
A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation
|
Dheensa, Sandi |
|
2017 |
60 |
7 |
p. 403-409 7 p. |
artikel |
3 |
Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation
|
Guaraldi, Federica |
|
2017 |
60 |
7 |
p. 380-384 5 p. |
artikel |
4 |
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation
|
Quélin, Chloé |
|
2017 |
60 |
7 |
p. 395-398 4 p. |
artikel |
5 |
Identification of a novel and functional mutation in the TBX5 gene in a patient by screening from 354 patients with isolated ventricular septal defect
|
Chen, Huan-Xin |
|
2017 |
60 |
7 |
p. 385-390 6 p. |
artikel |
6 |
Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation
|
Aggarwal, Anjali |
|
2017 |
60 |
7 |
p. 391-394 4 p. |
artikel |
7 |
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene
|
Bargiacchi, Sara |
|
2017 |
60 |
7 |
p. 365-368 4 p. |
artikel |
8 |
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia
|
Wu, Weiqing |
|
2017 |
60 |
7 |
p. 369-373 5 p. |
artikel |
9 |
The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call
|
Towler, O. Will |
|
2017 |
60 |
7 |
p. 399-402 4 p. |
artikel |
10 |
The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence
|
Murray, Natalia |
|
2017 |
60 |
7 |
p. 353-358 6 p. |
artikel |
11 |
Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome
|
Au, P.Y.B. |
|
2017 |
60 |
7 |
p. 359-364 6 p. |
artikel |