| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer–Giedion syndrome in an Asian family
|
Min, Byung-Joo
|
|
2013
|
56 |
10 |
p. 561-565
5 p.
|
article
|
| 2 |
Charcot–Marie–Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication
|
Speevak, Marsha D.
|
|
2013
|
56 |
10 |
p. 566-569
4 p.
|
article
|
| 3 |
Clinical and genetic study of two patients with Zimmermann–Laband syndrome and literature review
|
Castori, Marco
|
|
2013
|
56 |
10 |
p. 570-576
7 p.
|
article
|
| 4 |
Co-occurrence of multiple sclerosis and cancer in a BRCA1 positive family
|
Holzmann, Carsten
|
|
2013
|
56 |
10 |
p. 577-579
3 p.
|
article
|
| 5 |
Disclosing incidental findings in genetics contexts: A review of the empirical ethical research
|
Christenhusz, Gabrielle M.
|
|
2013
|
56 |
10 |
p. 529-540
12 p.
|
article
|
| 6 |
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene
|
Bayindir, Baran
|
|
2013
|
56 |
10 |
p. 551-555
5 p.
|
article
|
| 7 |
Finger creases lend a hand in Kabuki syndrome
|
Michot, Caroline
|
|
2013
|
56 |
10 |
p. 556-560
5 p.
|
article
|
| 8 |
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4
|
Molin, Arnaud
|
|
2013
|
56 |
10 |
p. 580-583
4 p.
|
article
|
| 9 |
Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy
|
Campuzano, Oscar
|
|
2013
|
56 |
10 |
p. 541-545
5 p.
|
article
|
| 10 |
SNP arrays in Beckwith–Wiedemann syndrome: An improved diagnostic strategy
|
Keren, Boris
|
|
2013
|
56 |
10 |
p. 546-550
5 p.
|
article
|
Journal description