| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation
|
Moortgat, Stephanie
|
|
2014
|
57 |
5 |
p. 212-215
4 p.
|
article
|
| 2 |
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression
|
Bürk, Katrin
|
|
2014
|
57 |
5 |
p. 207-211
5 p.
|
article
|
| 3 |
Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly
|
Grotto, Sarah
|
|
2014
|
57 |
5 |
p. 200-206
7 p.
|
article
|
| 4 |
Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997–2007
|
Kancherla, Vijaya
|
|
2014
|
57 |
5 |
p. 220-229
10 p.
|
article
|
| 5 |
Is there a link between ovarian cancer and tooth agenesis?
|
Bonds, John
|
|
2014
|
57 |
5 |
p. 235-239
5 p.
|
article
|
| 6 |
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3′ end of FBN1 gene
|
Jacquinet, Adeline
|
|
2014
|
57 |
5 |
p. 230-234
5 p.
|
article
|
| 7 |
Neuropsychological impairments in elderly Neurofibromatosis type 1 patients
|
Costa, Danielle de Souza
|
|
2014
|
57 |
5 |
p. 216-219
4 p.
|
article
|
| 8 |
Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion
|
Blanchard, Marina
|
|
2014
|
57 |
5 |
p. 195-199
5 p.
|
article
|
| 9 |
Report on 3 patients with 12p duplication including GRIN2B
|
Poirsier, Celine
|
|
2014
|
57 |
5 |
p. 185-194
10 p.
|
article
|
| 10 |
Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation
|
Guven, Yeliz
|
|
2014
|
57 |
5 |
p. 240-246
7 p.
|
article
|
Journal description