| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family
|
Lumaka, Aimé
|
|
2014
|
57 |
4 |
p. 169-173
5 p.
|
artikel
|
| 2 |
A three-generation family with terminal microdeletion involving 5p15.33–32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome
|
Elmakky, Amira
|
|
2014
|
57 |
4 |
p. 145-150
6 p.
|
artikel
|
| 3 |
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss
|
Freitas, Érika L.
|
|
2014
|
57 |
4 |
p. 125-128
4 p.
|
artikel
|
| 4 |
Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges
|
Vanakker, Olivier
|
|
2014
|
57 |
4 |
p. 151-156
6 p.
|
artikel
|
| 5 |
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature
|
Gonçalves, Thainá Fernandez
|
|
2014
|
57 |
4 |
p. 138-144
7 p.
|
artikel
|
| 6 |
Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene
|
Schaefer, Elise
|
|
2014
|
57 |
4 |
p. 129-132
4 p.
|
artikel
|
| 7 |
Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum
|
Dhamija, Radhika
|
|
2014
|
57 |
4 |
p. 181-184
4 p.
|
artikel
|
| 8 |
Novel SOST gene mutation in a sclerosteosis patient from Morocco: A case report
|
Belkhribchia, Mohamed Reda
|
|
2014
|
57 |
4 |
p. 133-137
5 p.
|
artikel
|
| 9 |
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
|
Yamamoto, Toshiyuki
|
|
2014
|
57 |
4 |
p. 163-168
6 p.
|
artikel
|
| 10 |
Presenting symptoms in adults with the 22q11 deletion syndrome
|
Vogels, Annick
|
|
2014
|
57 |
4 |
p. 157-162
6 p.
|
artikel
|
| 11 |
SALL4 and NFATC2: Two major actors of interstitial 20q13.2 duplication
|
Briand-Suleau, A.
|
|
2014
|
57 |
4 |
p. 174-180
7 p.
|
artikel
|
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