nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('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. |
artikel |
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. |
artikel |
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. |
artikel |
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. |
artikel |
5 |
Is there a link between ovarian cancer and tooth agenesis?
|
Bonds, John |
|
2014 |
57 |
5 |
p. 235-239 5 p. |
artikel |
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. |
artikel |
7 |
Neuropsychological impairments in elderly Neurofibromatosis type 1 patients
|
Costa, Danielle de Souza |
|
2014 |
57 |
5 |
p. 216-219 4 p. |
artikel |
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. |
artikel |
9 |
Report on 3 patients with 12p duplication including GRIN2B
|
Poirsier, Celine |
|
2014 |
57 |
5 |
p. 185-194 10 p. |
artikel |
10 |
Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation
|
Guven, Yeliz |
|
2014 |
57 |
5 |
p. 240-246 7 p. |
artikel |