nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype
|
Tougaard, Birgitte G. |
|
2016 |
59 |
9 |
p. 474-477 4 p. |
artikel |
2 |
A novel MIP mutation in familial congenital nuclear cataracts
|
Qin, Litao |
|
2016 |
59 |
9 |
p. 488-491 4 p. |
artikel |
3 |
Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability
|
Naoufal, Rania |
|
2016 |
59 |
9 |
p. 483-487 5 p. |
artikel |
4 |
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
|
Breckpot, Jeroen |
|
2016 |
59 |
9 |
p. 436-443 8 p. |
artikel |
5 |
Genetic testing and counseling in the case of an autism diagnosis: A caregivers perspective
|
Hens, Kristien |
|
2016 |
59 |
9 |
p. 452-458 7 p. |
artikel |
6 |
Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome
|
Jiraanont, P. |
|
2016 |
59 |
9 |
p. 459-462 4 p. |
artikel |
7 |
Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome
|
Chakroun, Amine |
|
2016 |
59 |
9 |
p. 444-451 8 p. |
artikel |
8 |
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review
|
Rocha, Helena |
|
2016 |
59 |
9 |
p. 478-482 5 p. |
artikel |
9 |
The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome
|
Hervé, B. |
|
2016 |
59 |
9 |
p. 463-469 7 p. |
artikel |
10 |
Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa
|
Skopkova, Martina |
|
2016 |
59 |
9 |
p. 429-435 7 p. |
artikel |
11 |
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder
|
Bhat, Gifty |
|
2016 |
59 |
9 |
p. 470-473 4 p. |
artikel |