| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre–Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc
|
De Marco, Patrizia
|
|
2011
|
54 |
5 |
p. e478-e483
nvt p.
|
artikel
|
| 2 |
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation
|
Bens, Susanne
|
|
2011
|
54 |
5 |
p. e501-e504
nvt p.
|
artikel
|
| 3 |
A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis
|
Caliebe, Almuth
|
|
2011
|
54 |
5 |
p. e505-e509
nvt p.
|
artikel
|
| 4 |
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans
|
Mosrati, Mohamed Ali
|
|
2011
|
54 |
5 |
p. e484-e488
nvt p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
2011
|
54 |
5 |
p. i-
1 p.
|
artikel
|
| 6 |
Familial short stature due to a 5q22.1–q23.2 duplication refines the 5q duplication spectrum
|
Zahnleiter, Diana
|
|
2011
|
54 |
5 |
p. e521-e524
nvt p.
|
artikel
|
| 7 |
Genotype–phenotype correlation in 13q13.3–q21.3 deletion
|
Tosca, Lucie
|
|
2011
|
54 |
5 |
p. e489-e494
nvt p.
|
artikel
|
| 8 |
7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)
|
Hofmann, Kristin
|
|
2011
|
54 |
5 |
p. e495-e500
nvt p.
|
artikel
|
| 9 |
9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features
|
Sismani, Carolina
|
|
2011
|
54 |
5 |
p. e510-e515
nvt p.
|
artikel
|
| 10 |
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
|
Chung, Brian H.Y.
|
|
2011
|
54 |
5 |
p. e516-e520
nvt p.
|
artikel
|
| 11 |
Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling
|
Houeijeh, Ali
|
|
2011
|
54 |
5 |
p. e471-e477
nvt p.
|
artikel
|
| 12 |
Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia
|
Petit, Florence
|
|
2011
|
54 |
5 |
p. e525-e527
nvt p.
|
artikel
|
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