| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of an atypically large proximal 15q deletion as cause for Prader–Willi syndrome arising from a de novo unbalanced translocation
|
Hickey, Scott E.
|
|
2013
|
56 |
9 |
p. 510-514
5 p.
|
artikel
|
| 2 |
A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum
|
Takagi, Masaki
|
|
2013
|
56 |
9 |
p. 526-528
3 p.
|
artikel
|
| 3 |
An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
|
Vulto-van Silfhout, Anneke T.
|
|
2013
|
56 |
9 |
p. 471-474
4 p.
|
artikel
|
| 4 |
Atypical copy number abnormalities in 22q11.2 region: Report of three cases
|
Molck, Miriam Coelho
|
|
2013
|
56 |
9 |
p. 515-520
6 p.
|
artikel
|
| 5 |
Audiological follow-up of 24 patients affected by Williams syndrome
|
Barozzi, Stefania
|
|
2013
|
56 |
9 |
p. 490-496
7 p.
|
artikel
|
| 6 |
Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome
|
Freriks, Kim
|
|
2013
|
56 |
9 |
p. 497-501
5 p.
|
artikel
|
| 7 |
Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation
|
Liao, Can
|
|
2013
|
56 |
9 |
p. 484-489
6 p.
|
artikel
|
| 8 |
Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid
|
Essaoui, M.
|
|
2013
|
56 |
9 |
p. 502-505
4 p.
|
artikel
|
| 9 |
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion
|
Hickey, Scott E.
|
|
2013
|
56 |
9 |
p. 521-525
5 p.
|
artikel
|
| 10 |
Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus
|
Sakai, Yasunari
|
|
2013
|
56 |
9 |
p. 475-483
9 p.
|
artikel
|
| 11 |
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy
|
McMichael, Gai
|
|
2013
|
56 |
9 |
p. 506-509
4 p.
|
artikel
|
Tijdschrift beschrijving