nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('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. |
artikel |
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. |
artikel |
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. |
artikel |
4 |
Co-occurrence of multiple sclerosis and cancer in a BRCA1 positive family
|
Holzmann, Carsten |
|
2013 |
56 |
10 |
p. 577-579 3 p. |
artikel |
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. |
artikel |
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. |
artikel |
7 |
Finger creases lend a hand in Kabuki syndrome
|
Michot, Caroline |
|
2013 |
56 |
10 |
p. 556-560 5 p. |
artikel |
8 |
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4
|
Molin, Arnaud |
|
2013 |
56 |
10 |
p. 580-583 4 p. |
artikel |
9 |
Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy
|
Campuzano, Oscar |
|
2013 |
56 |
10 |
p. 541-545 5 p. |
artikel |
10 |
SNP arrays in Beckwith–Wiedemann syndrome: An improved diagnostic strategy
|
Keren, Boris |
|
2013 |
56 |
10 |
p. 546-550 5 p. |
artikel |