| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype
|
Concolino, D.
|
|
2012
|
55 |
1 |
p. 67-70
4 p.
|
article
|
| 2 |
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12
|
Bartsch, Oliver
|
|
2012
|
55 |
1 |
p. 49-55
7 p.
|
article
|
| 3 |
A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient
|
Setijowati, E.D.
|
|
2012
|
55 |
1 |
p. 17-21
5 p.
|
article
|
| 4 |
Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: Expansion of phenotypic spectrum
|
Zaki, M.S.
|
|
2012
|
55 |
1 |
p. 43-48
6 p.
|
article
|
| 5 |
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome
|
Breckpot, Jeroen
|
|
2012
|
55 |
1 |
p. 12-16
5 p.
|
article
|
| 6 |
Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59Mb in 10p15.3–p14 and 4.22Mb in 10q26.3
|
Christopoulou, G.
|
|
2012
|
55 |
1 |
p. 75-79
5 p.
|
article
|
| 7 |
Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment
|
Østergaard, John R.
|
|
2012
|
55 |
1 |
p. 22-26
5 p.
|
article
|
| 8 |
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: Could biallelic loss of conserved, non-coding elements lead to a phenotype?
|
Makrythanasis, Periklis
|
|
2012
|
55 |
1 |
p. 63-66
4 p.
|
article
|
| 9 |
IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features
|
Youngs, Erin L.
|
|
2012
|
55 |
1 |
p. 32-36
5 p.
|
article
|
| 10 |
Limb skeletal malformations – What the HOX is going on?
|
Brison, Nathalie
|
|
2012
|
55 |
1 |
p. 1-7
7 p.
|
article
|
| 11 |
Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: Another case of Yunis-Varón syndrome or report of a new entity
|
Reutter, Heiko
|
|
2012
|
55 |
1 |
p. 27-31
5 p.
|
article
|
| 12 |
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: A very mild phenotype
|
Jonard, Laurence
|
|
2012
|
55 |
1 |
p. 56-58
3 p.
|
article
|
| 13 |
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features
|
Noh, Grace J.
|
|
2012
|
55 |
1 |
p. 59-62
4 p.
|
article
|
| 14 |
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)
|
Yuca, Sevil Ari
|
|
2012
|
55 |
1 |
p. 37-42
6 p.
|
article
|
| 15 |
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma
|
Piard, Juliette
|
|
2012
|
55 |
1 |
p. 8-11
4 p.
|
article
|
| 16 |
Three siblings with Cerebrotendinous Xanthomatosis: A novel mutation in the CYP27A1 gene
|
Suh, Sunghwan
|
|
2012
|
55 |
1 |
p. 71-74
4 p.
|
article
|
Journal description