| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another
|
Wentzel, Christian
|
|
2014
|
57 |
6 |
p. 259-263
5 p.
|
artikel
|
| 2 |
A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features
|
Vinkler, Chana
|
|
2014
|
57 |
6 |
p. 288-292
5 p.
|
artikel
|
| 3 |
A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis
|
Koçak Eker, Hatice
|
|
2014
|
57 |
6 |
p. 275-278
4 p.
|
artikel
|
| 4 |
Brain tumors in Turner syndrome
|
Alexiou, George A.
|
|
2014
|
57 |
6 |
p. 312-313
2 p.
|
artikel
|
| 5 |
Craniofacial bony defect with developmental abnormality of facial bones, dental malalignment and ectopic neural tissue in the internal auditory meati – A new syndrome?
|
Colleran, G.C.
|
|
2014
|
57 |
6 |
p. 302-305
4 p.
|
artikel
|
| 6 |
Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations
|
Brady, Paul D.
|
|
2014
|
57 |
6 |
p. 247-252
6 p.
|
artikel
|
| 7 |
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population
|
Ramzan, Khushnooda
|
|
2014
|
57 |
6 |
p. 253-258
6 p.
|
artikel
|
| 8 |
Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood
|
Alders, Mariëlle
|
|
2014
|
57 |
6 |
p. 293-297
5 p.
|
artikel
|
| 9 |
Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects
|
Ji, Jianling
|
|
2014
|
57 |
6 |
p. 267-268
2 p.
|
artikel
|
| 10 |
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype
|
Grønskov, Karen
|
|
2014
|
57 |
6 |
p. 284-287
4 p.
|
artikel
|
| 11 |
Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader–Willi syndrome
|
Žilina, Olga
|
|
2014
|
57 |
6 |
p. 279-283
5 p.
|
artikel
|
| 12 |
SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype
|
Takenouchi, Toshiki
|
|
2014
|
57 |
6 |
p. 298-301
4 p.
|
artikel
|
| 13 |
Turner syndrome and meningioma: Support for a possible increased risk of neoplasia in Turner syndrome
|
Pier, Danielle B.
|
|
2014
|
57 |
6 |
p. 269-274
6 p.
|
artikel
|
| 14 |
Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care
|
Liu, Anthony P.Y.
|
|
2014
|
57 |
6 |
p. 306-311
6 p.
|
artikel
|
| 15 |
Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood
|
Pal, Chandni V.
|
|
2014
|
57 |
6 |
p. 264-266
3 p.
|
artikel
|
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