| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion
|
Kim, Hyo Jeong
|
|
2015
|
58 |
2 |
p. 86-94
9 p.
|
artikel
|
| 2 |
A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type
|
Singh, Ankur
|
|
2015
|
58 |
2 |
p. 105-110
6 p.
|
artikel
|
| 3 |
Associated noncardiac congenital anomalies among cases with congenital heart defects
|
Stoll, Claude
|
|
2015
|
58 |
2 |
p. 75-85
11 p.
|
artikel
|
| 4 |
DNA methylation patterns of protein coding genes and long noncoding RNAs in female schizophrenic patients
|
Liao, Qi
|
|
2015
|
58 |
2 |
p. 95-104
10 p.
|
artikel
|
| 5 |
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts
|
Kariminejad, Ariana
|
|
2015
|
58 |
2 |
p. 71-74
4 p.
|
artikel
|
| 6 |
Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability
|
Samuelsson, Lena
|
|
2015
|
58 |
2 |
p. 111-115
5 p.
|
artikel
|
| 7 |
Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability
|
Yingjun, Xie
|
|
2015
|
58 |
2 |
p. 116-121
6 p.
|
artikel
|
| 8 |
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
|
Boutry-Kryza, Nadia
|
|
2015
|
58 |
2 |
p. 51-58
8 p.
|
artikel
|
| 9 |
Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins
|
Paradisi, Irene
|
|
2015
|
58 |
2 |
p. 59-65
7 p.
|
artikel
|
| 10 |
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia
|
Mauri, Lucia
|
|
2015
|
58 |
2 |
p. 66-70
5 p.
|
artikel
|
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