| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features
|
Poirsier-Violle, Céline
|
|
2013
|
56 |
4 |
p. 226-228
3 p.
|
article
|
| 2 |
Allan–Herndon–Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels
|
Boccone, Loredana
|
|
2013
|
56 |
4 |
p. 207-210
4 p.
|
article
|
| 3 |
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
|
Izzo, Giselle
|
|
2013
|
56 |
4 |
p. 222-225
4 p.
|
article
|
| 4 |
A small de novo 16q24.1 duplication in a woman with severe clinical features
|
Quéméner-Redon, Sylvia
|
|
2013
|
56 |
4 |
p. 211-215
5 p.
|
article
|
| 5 |
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome
|
Hüning, Irina
|
|
2013
|
56 |
4 |
p. 188-191
4 p.
|
article
|
| 6 |
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations
|
Simsek Papur, Ozlenen
|
|
2013
|
56 |
4 |
p. 175-179
5 p.
|
article
|
| 7 |
Non-mosaic uniparental trisomy 16 presenting with asplenia syndrome and placental abruption: A case report and literature review
|
Su, Mei-Tsz
|
|
2013
|
56 |
4 |
p. 197-201
5 p.
|
article
|
| 8 |
Patient with Dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature
|
Žilina, Olga
|
|
2013
|
56 |
4 |
p. 202-206
5 p.
|
article
|
| 9 |
3q26.33–3q27.2 microdeletion: A new microdeletion syndrome?
|
Mandrile, Giorgia
|
|
2013
|
56 |
4 |
p. 216-221
6 p.
|
article
|
| 10 |
The effect of the cleidocranial dysplasia-related novel 1116_1119insC mutation in the RUNX2 gene on the biological function of mesenchymal cells
|
Ding, Bofu
|
|
2013
|
56 |
4 |
p. 180-187
8 p.
|
article
|
| 11 |
To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis
|
Vernooij-van Langen, Annette M.M.
|
|
2013
|
56 |
4 |
p. 192-196
5 p.
|
article
|
Journal description