| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A balanced t(10;15) translocation in a male patient with developmental language disorder
|
Ercan-Sencicek, A. Gulhan
|
|
2012
|
55 |
2 |
p. 128-131
4 p.
|
artikel
|
| 2 |
Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities
|
Basinko, Audrey
|
|
2012
|
55 |
2 |
p. 112-116
5 p.
|
artikel
|
| 3 |
Contradictory results in “Yq microdeletions in infertile men from Northern India” by Mittal et al. (Ann. Genet. 47 (2004) 331–337)
|
Saliminejad, Kioomars
|
|
2012
|
55 |
2 |
p. 156-
1 p.
|
artikel
|
| 4 |
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia
|
Ballarati, Lucia
|
|
2012
|
55 |
2 |
p. 124-127
4 p.
|
artikel
|
| 5 |
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
|
Capelli, Leonardo P.
|
|
2012
|
55 |
2 |
p. 132-134
3 p.
|
artikel
|
| 6 |
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature
|
Perrone, M.D.
|
|
2012
|
55 |
2 |
p. 117-119
3 p.
|
artikel
|
| 7 |
Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: A recognizable microdeletion phenotype?
|
Moutton, Sébastien
|
|
2012
|
55 |
2 |
p. 151-155
5 p.
|
artikel
|
| 8 |
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome
|
Szakszon, Katalin
|
|
2012
|
55 |
2 |
p. 109-111
3 p.
|
artikel
|
| 9 |
Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance
|
Mammen, Cherry
|
|
2012
|
55 |
2 |
p. 96-98
3 p.
|
artikel
|
| 10 |
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome
|
Mehawej, Cybel
|
|
2012
|
55 |
2 |
p. 103-108
6 p.
|
artikel
|
| 11 |
40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features
|
Izzo, A.
|
|
2012
|
55 |
2 |
p. 140-144
5 p.
|
artikel
|
| 12 |
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype
|
Brun, Aurore
|
|
2012
|
55 |
2 |
p. 135-139
5 p.
|
artikel
|
| 13 |
Micro-duplications of 1q32.1 associated with neurodevelopmental delay
|
Olson, H.E.
|
|
2012
|
55 |
2 |
p. 145-150
6 p.
|
artikel
|
| 14 |
Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome
|
Quélin, Chloé
|
|
2012
|
55 |
2 |
p. 81-90
10 p.
|
artikel
|
| 15 |
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss
|
Bashir, Rasheeda
|
|
2012
|
55 |
2 |
p. 99-102
4 p.
|
artikel
|
| 16 |
RASA1 analysis: Clinical and molecular findings in a series of consecutive cases
|
Wooderchak-Donahue, Whitney
|
|
2012
|
55 |
2 |
p. 91-95
5 p.
|
artikel
|
| 17 |
Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes
|
Guastadisegni, Maria Corsignano
|
|
2012
|
55 |
2 |
p. 120-123
4 p.
|
artikel
|
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