| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family
|
Sher, Gulab
|
|
2014
|
57 |
1 |
p. 21-24
4 p.
|
artikel
|
| 2 |
A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation
|
Wang, Jun
|
|
2014
|
57 |
1 |
p. 25-31
7 p.
|
artikel
|
| 3 |
Asystole in alternating hemiplegia with de novo ATP1A3 mutation
|
Novy, Jan
|
|
2014
|
57 |
1 |
p. 37-39
3 p.
|
artikel
|
| 4 |
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser–Winter syndrome
|
Eker, Hatice Koçak
|
|
2014
|
57 |
1 |
p. 32-36
5 p.
|
artikel
|
| 5 |
Distal 10q monosomy: New evidence for a neurobehavioral condition?
|
Plaisancié, Julie
|
|
2014
|
57 |
1 |
p. 47-53
7 p.
|
artikel
|
| 6 |
Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases
|
Al Ageeli, Essam
|
|
2014
|
57 |
1 |
p. 5-14
10 p.
|
artikel
|
| 7 |
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
|
Barcia, Giulia
|
|
2014
|
57 |
1 |
p. 15-20
6 p.
|
artikel
|
| 8 |
Evidence of the involvement of the DHFR gene in nonsyndromic cleft lip with or without cleft palate
|
Martinelli, Marcella
|
|
2014
|
57 |
1 |
p. 1-4
4 p.
|
artikel
|
| 9 |
Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12
|
Smigiel, Robert
|
|
2014
|
57 |
1 |
p. 40-43
4 p.
|
artikel
|
| 10 |
RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability
|
Baglietto, Maria Giuseppina
|
|
2014
|
57 |
1 |
p. 44-46
3 p.
|
artikel
|
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