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                             16 results found
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
                             16 results found
 
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