| no |
title |
author |
magazine |
year |
volume |
issue |
page(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.
|
article
|
| 2 |
A novel MIP mutation in familial congenital nuclear cataracts
|
Qin, Litao
|
|
2016
|
59 |
9 |
p. 488-491
4 p.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 8 |
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review
|
Rocha, Helena
|
|
2016
|
59 |
9 |
p. 478-482
5 p.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
Journal description