| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay
|
Bouquillon, Sonia
|
|
2011
|
54 |
2 |
p. 194-197
4 p.
|
artikel
|
| 2 |
A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia
|
Männik, Katrin
|
|
2011
|
54 |
2 |
p. 136-143
8 p.
|
artikel
|
| 3 |
Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia
|
Vrzalová, Zuzana
|
|
2011
|
54 |
2 |
p. 112-117
6 p.
|
artikel
|
| 4 |
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
|
Dubourg, Christèle
|
|
2011
|
54 |
2 |
p. 144-151
8 p.
|
artikel
|
| 5 |
Crane–Heise syndrome: Two further case reports
|
Petit, Florence
|
|
2011
|
54 |
2 |
p. 169-172
4 p.
|
artikel
|
| 6 |
Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform
|
Hoang, Sarah
|
|
2011
|
54 |
2 |
p. 121-129
9 p.
|
artikel
|
| 7 |
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome
|
Moortgat, Stephanie
|
|
2011
|
54 |
2 |
p. 177-180
4 p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
2011
|
54 |
2 |
p. i-
1 p.
|
artikel
|
| 9 |
Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype
|
Reshmi, Shalini C.
|
|
2011
|
54 |
2 |
p. 161-164
4 p.
|
artikel
|
| 10 |
Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
|
Kulseth, Mari Ann
|
|
2011
|
54 |
2 |
p. 130-135
6 p.
|
artikel
|
| 11 |
Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7
|
Paskulin, Giorgio Adriano
|
|
2011
|
54 |
2 |
p. 181-185
5 p.
|
artikel
|
| 12 |
Langerhans cell histiocytosis, a new clinical phenotype of x-linked lymphoproliferative disease?
|
Zhang, Xiaoying
|
|
2011
|
54 |
2 |
p. 165-168
4 p.
|
artikel
|
| 13 |
1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay
|
Abdelmoity, Ahmed T.
|
|
2011
|
54 |
2 |
p. 198-203
6 p.
|
artikel
|
| 14 |
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
|
Schaefer, Elise
|
|
2011
|
54 |
2 |
p. 157-160
4 p.
|
artikel
|
| 15 |
Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report
|
Kosztolányi, G.
|
|
2011
|
54 |
2 |
p. 152-156
5 p.
|
artikel
|
| 16 |
Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly
|
Gong, Licheng
|
|
2011
|
54 |
2 |
p. 108-111
4 p.
|
artikel
|
| 17 |
Six novel ATP7B mutations in Thai patients with Wilson disease
|
Panichareon, Benjaporn
|
|
2011
|
54 |
2 |
p. 103-107
5 p.
|
artikel
|
| 18 |
Study of consanguineous populations can improve the annotation of SNP databases
|
Shamseldin, Hanan E.
|
|
2011
|
54 |
2 |
p. 118-120
3 p.
|
artikel
|
| 19 |
Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect
|
Jaillard, Sylvie
|
|
2011
|
54 |
2 |
p. 186-188
3 p.
|
artikel
|
| 20 |
Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features
|
Khalifa, Ola A.
|
|
2011
|
54 |
2 |
p. 173-176
4 p.
|
artikel
|
| 21 |
Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1
|
Zambrano, Regina M.
|
|
2011
|
54 |
2 |
p. 189-193
5 p.
|
artikel
|
Tijdschrift beschrijving