| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome
|
Chen, Chih-Ping
|
|
2012
|
55 |
11 |
p. 666-669
4 p.
|
artikel
|
| 2 |
A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
|
Freitas, Érika L.
|
|
2012
|
55 |
11 |
p. 660-665
6 p.
|
artikel
|
| 3 |
A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2
|
Siomou, Elisavet
|
|
2012
|
55 |
11 |
p. 641-645
5 p.
|
artikel
|
| 4 |
An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment
|
Pebrel-Richard, Céline
|
|
2012
|
55 |
11 |
p. 650-655
6 p.
|
artikel
|
| 5 |
A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features
|
Preiksaitiene, E.
|
|
2012
|
55 |
11 |
p. 656-659
4 p.
|
artikel
|
| 6 |
A novel mutation in CDMP1 causes brachydactyly type C with “angel-shaped phalanx”. A genotype–phenotype correlation in the mutational spectrum
|
Gutiérrez-Amavizca, Bianca Ethel
|
|
2012
|
55 |
11 |
p. 611-614
4 p.
|
artikel
|
| 7 |
Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion
|
Vucurovic, Ksenija
|
|
2012
|
55 |
11 |
p. 625-629
5 p.
|
artikel
|
| 8 |
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female
|
Alao, M.J.
|
|
2012
|
55 |
11 |
p. 630-634
5 p.
|
artikel
|
| 9 |
Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly
|
Luo, Hong
|
|
2012
|
55 |
11 |
p. 646-649
4 p.
|
artikel
|
| 10 |
Familial Turner syndrome with an X;Y translocation mosaicism: Implications for genetic counseling
|
Portnoï, Marie-France
|
|
2012
|
55 |
11 |
p. 635-640
6 p.
|
artikel
|
| 11 |
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1
|
Haghighi, Amirreza
|
|
2012
|
55 |
11 |
p. 620-624
5 p.
|
artikel
|
| 12 |
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
|
Willemsen, Marjolein H.
|
|
2012
|
55 |
11 |
p. 586-598
13 p.
|
artikel
|
| 13 |
Polyglutamined expanded androgen receptor interacts with chaperonin CCT
|
Pongtepaditep, Suttikarn
|
|
2012
|
55 |
11 |
p. 599-604
6 p.
|
artikel
|
| 14 |
Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) – A case report and review of congenital heart defects reported in the human ciliopathies
|
Karp, Natalya
|
|
2012
|
55 |
11 |
p. 605-610
6 p.
|
artikel
|
| 15 |
Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants
|
Isrie, M.
|
|
2012
|
55 |
11 |
p. 577-585
9 p.
|
artikel
|
| 16 |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D
|
Lorenz, Sybille
|
|
2012
|
55 |
11 |
p. 615-619
5 p.
|
artikel
|
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