| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism
|
Jonsson, Dagur Ingi
|
|
2012
|
55 |
6-7 |
p. 437-440
4 p.
|
article
|
| 2 |
A further patient with van Maldergem syndrome
|
Neuhann, T.M.
|
|
2012
|
55 |
6-7 |
p. 423-428
6 p.
|
article
|
| 3 |
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome
|
Marignier, Stéphanie
|
|
2012
|
55 |
6-7 |
p. 433-436
4 p.
|
article
|
| 4 |
Cognitive functioning in children and adults with Smith-Magenis syndrome
|
Osório, Ana
|
|
2012
|
55 |
6-7 |
p. 394-399
6 p.
|
article
|
| 5 |
Klippel–Feil syndrome associated with situs inversus: Description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes
|
Chacón-Camacho, Oscar
|
|
2012
|
55 |
6-7 |
p. 414-417
4 p.
|
article
|
| 6 |
Mosaicism in Stickler syndrome
|
Stevenson, David A.
|
|
2012
|
55 |
6-7 |
p. 418-422
5 p.
|
article
|
| 7 |
Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: Review of the literature
|
Salahshourifar, Iman
|
|
2012
|
55 |
6-7 |
p. 389-393
5 p.
|
article
|
| 8 |
Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region
|
Shimojima, Keiko
|
|
2012
|
55 |
6-7 |
p. 400-403
4 p.
|
article
|
| 9 |
19q13 microdeletion syndrome: Further refining the critical region
|
Forzano, Francesca
|
|
2012
|
55 |
6-7 |
p. 429-432
4 p.
|
article
|
| 10 |
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
|
Bijlsma, E.K.
|
|
2012
|
55 |
6-7 |
p. 404-413
10 p.
|
article
|
Journal description