| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
|
Horn, Denise
|
|
2015
|
58 |
8 |
p. 387-391
5 p.
|
artikel
|
| 2 |
Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype
|
Kolarova, Julia
|
|
2015
|
58 |
8 |
p. 419-425
7 p.
|
artikel
|
| 3 |
Chromosomal aberrations in idiopathic polyhydramnios: A systematic review and meta-analysis
|
Sagi-Dain, Lena
|
|
2015
|
58 |
8 |
p. 409-415
7 p.
|
artikel
|
| 4 |
Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings
|
Khalifa, Mohamed
|
|
2015
|
58 |
8 |
p. 381-386
6 p.
|
artikel
|
| 5 |
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome – The emerging role of combined NGS and phenotype based strategies
|
Flöttmann, Ricarda
|
|
2015
|
58 |
8 |
p. 376-380
5 p.
|
artikel
|
| 6 |
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker–Warburg syndrome
|
Trkova, Marie
|
|
2015
|
58 |
8 |
p. 372-375
4 p.
|
artikel
|
| 7 |
Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome
|
Digilio, M. Cristina
|
|
2015
|
58 |
8 |
p. 406-408
3 p.
|
artikel
|
| 8 |
Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene
|
Tamhankar, Parag M.
|
|
2015
|
58 |
8 |
p. 392-399
8 p.
|
artikel
|
| 9 |
Progressive brain atrophy in Schinzel–Giedion syndrome with a SETBP1 mutation
|
Takeuchi, Akihito
|
|
2015
|
58 |
8 |
p. 369-371
3 p.
|
artikel
|
| 10 |
Rare ACTG1 variants in fetal microlissencephaly
|
Poirier, Karine
|
|
2015
|
58 |
8 |
p. 416-418
3 p.
|
artikel
|
| 11 |
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype
|
Ponzi, Emanuela
|
|
2015
|
58 |
8 |
p. 400-405
6 p.
|
artikel
|
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