| 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
|
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