nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis
|
Machado, Aline Zamboni |
|
2012 |
55 |
12 |
p. 690-694 5 p. |
artikel |
2 |
A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures
|
Selmer, Kaja K. |
|
2012 |
55 |
12 |
p. 715-718 4 p. |
artikel |
3 |
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly
|
Kakar, Naseebullah |
|
2012 |
55 |
12 |
p. 727-731 5 p. |
artikel |
4 |
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
|
Floor, Karijn |
|
2012 |
55 |
12 |
p. 695-699 5 p. |
artikel |
5 |
A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features – Is cardiac assessment necessary for all patients with 17p13.3 microduplication?
|
Ho, Alvin C.C. |
|
2012 |
55 |
12 |
p. 758-762 5 p. |
artikel |
6 |
A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients
|
Su, Pen-Hua |
|
2012 |
55 |
12 |
p. 682-687 6 p. |
artikel |
7 |
Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: Case report and literature review
|
Perrin, Aurore |
|
2012 |
55 |
12 |
p. 743-746 4 p. |
artikel |
8 |
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene
|
Hertecant, Jozef L. |
|
2012 |
55 |
12 |
p. 671-676 6 p. |
artikel |
9 |
Coronal craniosynostosis and radial ray hypoplasia: A third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia
|
Piard, Juliette |
|
2012 |
55 |
12 |
p. 719-722 4 p. |
artikel |
10 |
Delineating the 17q24.2–q24.3 microdeletion syndrome phenotype
|
Lestner, Jodi M. |
|
2012 |
55 |
12 |
p. 700-704 5 p. |
artikel |
11 |
Focal congenital lipoatrophy and vascular malformation: A mild form of inverse Klippel–Trenaunay syndrome?
|
Cappuccio, Gerarda |
|
2012 |
55 |
12 |
p. 705-707 3 p. |
artikel |
12 |
Frontotemporal pachygyria-Two new patients
|
Avela, Kristiina |
|
2012 |
55 |
12 |
p. 753-757 5 p. |
artikel |
13 |
G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on “A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton” by Vettore et al.
|
Kunishima, Shinji |
|
2012 |
55 |
12 |
p. 763-765 3 p. |
artikel |
14 |
Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation
|
Mattina, Teresa |
|
2012 |
55 |
12 |
p. 747-752 6 p. |
artikel |
15 |
Molecular and clinical characterization of patients with a ring chromosome 11
|
Hansson, Kerstin B.M. |
|
2012 |
55 |
12 |
p. 708-714 7 p. |
artikel |
16 |
Molecular characteristics of Chinese patients with Rett syndrome
|
Zhang, Xiaoying |
|
2012 |
55 |
12 |
p. 677-681 5 p. |
artikel |
17 |
Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1
|
Weisfeld-Adams, James D. |
|
2012 |
55 |
12 |
p. 732-736 5 p. |
artikel |
18 |
Prenatal diagnosis of the duplication 17p11.2 associated with Potocki–Lupski syndrome in a foetus presenting with mildly dysmorphic features
|
Popowski, T. |
|
2012 |
55 |
12 |
p. 723-726 4 p. |
artikel |
19 |
Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?
|
Faguer, Stanislas |
|
2012 |
55 |
12 |
p. 688-689 2 p. |
artikel |
20 |
Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions
|
Guediche, Narjes |
|
2012 |
55 |
12 |
p. 737-742 6 p. |
artikel |