| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A case of splenomegaly in CBL syndrome
|
Coe, Rachel R.
|
|
2017
|
60 |
7 |
p. 374-379
6 p.
|
article
|
| 2 |
A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation
|
Dheensa, Sandi
|
|
2017
|
60 |
7 |
p. 403-409
7 p.
|
article
|
| 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.
|
article
|
| 4 |
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation
|
Quélin, Chloé
|
|
2017
|
60 |
7 |
p. 395-398
4 p.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 9 |
The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call
|
Towler, O. Will
|
|
2017
|
60 |
7 |
p. 399-402
4 p.
|
article
|
| 10 |
The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence
|
Murray, Natalia
|
|
2017
|
60 |
7 |
p. 353-358
6 p.
|
article
|
| 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.
|
article
|
Journal description