| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects
|
Rao, Anupam
|
|
2014
|
57 |
2-3 |
p. 65-70
6 p.
|
artikel
|
| 2 |
A novel microdeletion involving the 13q31.3–q32.1 region in a patient with normal intelligence
|
Valdes-Miranda, Juan Manuel
|
|
2014
|
57 |
2-3 |
p. 60-64
5 p.
|
artikel
|
| 3 |
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling
|
Luk, H.M.
|
|
2014
|
57 |
2-3 |
p. 81-84
4 p.
|
artikel
|
| 4 |
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria
|
Casey, Jillian
|
|
2014
|
57 |
2-3 |
p. 55-59
5 p.
|
artikel
|
| 5 |
Confirmation and further delineation of the 3q26.33–3q27.2 microdeletion syndrome
|
Dasouki, Majed
|
|
2014
|
57 |
2-3 |
p. 76-80
5 p.
|
artikel
|
| 6 |
Consanguinity profile in the Gaza Strip of Palestine: Large-scale community-based study
|
Sirdah, Mahmoud M.
|
|
2014
|
57 |
2-3 |
p. 90-94
5 p.
|
artikel
|
| 7 |
Corrigendum to “Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5” [Eur J Med Genet 56 (8) (2013) 452–457]
|
Kannu, P.
|
|
2014
|
57 |
2-3 |
p. 123-124
2 p.
|
artikel
|
| 8 |
Distinct phenotype of PHF6 deletions in females
|
Di Donato, N.
|
|
2014
|
57 |
2-3 |
p. 85-89
5 p.
|
artikel
|
| 9 |
Modification of severe insulin resistant diabetes in response to lifestyle changes in Alström syndrome
|
Paisey, Richard B.
|
|
2014
|
57 |
2-3 |
p. 71-75
5 p.
|
artikel
|
| 10 |
Molecular genetics of congenital nuclear cataract
|
Deng, Hao
|
|
2014
|
57 |
2-3 |
p. 113-122
10 p.
|
artikel
|
| 11 |
Recent progress in the genetics of motor neuron disease
|
Finsterer, Josef
|
|
2014
|
57 |
2-3 |
p. 103-112
10 p.
|
artikel
|
| 12 |
Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome
|
Morissette, Rachel
|
|
2014
|
57 |
2-3 |
p. 95-102
8 p.
|
artikel
|
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