| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth
|
Jelsig, Anne Marie
|
|
2012
|
55 |
10 |
p. 564-567
4 p.
|
artikel
|
| 2 |
A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus
|
Vargas, Hilda
|
|
2012
|
55 |
10 |
p. 573-576
4 p.
|
artikel
|
| 3 |
Analysis of TGFB1 in European and Japanese Moyamoya disease patients
|
Liu, Chao
|
|
2012
|
55 |
10 |
p. 531-534
4 p.
|
artikel
|
| 4 |
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy
|
Jaklin, Christian
|
|
2012
|
55 |
10 |
p. 568-572
5 p.
|
artikel
|
| 5 |
Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy
|
Kroeldrup, L.
|
|
2012
|
55 |
10 |
p. 557-560
4 p.
|
artikel
|
| 6 |
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis
|
Quelin, Chloe
|
|
2012
|
55 |
10 |
p. 527-530
4 p.
|
artikel
|
| 7 |
GATA6 loss-of-function mutation in atrial fibrillation
|
Yang, Yi-Qing
|
|
2012
|
55 |
10 |
p. 520-526
7 p.
|
artikel
|
| 8 |
GWAS reveals new recessive loci associated with non-syndromic facial clefting
|
Camargo, Mauricio
|
|
2012
|
55 |
10 |
p. 510-514
5 p.
|
artikel
|
| 9 |
Humanity and human DNA
|
Mattei, Jean-François
|
|
2012
|
55 |
10 |
p. 503-509
7 p.
|
artikel
|
| 10 |
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
|
Wortmann, Saskia B.
|
|
2012
|
55 |
10 |
p. 552-556
5 p.
|
artikel
|
| 11 |
2p21 Deletions in hypotonia–cystinuria syndrome
|
Eggermann, Thomas
|
|
2012
|
55 |
10 |
p. 561-563
3 p.
|
artikel
|
| 12 |
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients
|
Tajir, Mariam
|
|
2012
|
55 |
10 |
p. 535-540
6 p.
|
artikel
|
| 13 |
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis
|
Korvala, Johanna
|
|
2012
|
55 |
10 |
p. 515-519
5 p.
|
artikel
|
| 14 |
Retinal involvement in two unrelated patients with Myhre syndrome
|
Al Ageeli, Essam
|
|
2012
|
55 |
10 |
p. 541-547
7 p.
|
artikel
|
| 15 |
Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature
|
Reinstein, Eyal
|
|
2012
|
55 |
10 |
p. 548-551
4 p.
|
artikel
|
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