Found: 17
Select item for more details and to access through your institution.
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 507, doi. 10.1111/cge.12094
- By:
- Publication type:
- Article
A population-based study of hereditary non-polyposis colorectal cancer: evidence of pathologic and genetic heterogeneity.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 522, doi. 10.1111/cge.12080
- By:
- Publication type:
- Article
Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 531, doi. 10.1111/cge.12106
- By:
- Publication type:
- Article
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 539, doi. 10.1111/cge.12081
- By:
- Publication type:
- Article
Prevalence and risk of migraine headaches in adult fragile X premutation carriers.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 546, doi. 10.1111/cge.12109
- By:
- Publication type:
- Article
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 552, doi. 10.1111/cge.12085
- By:
- Publication type:
- Article
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 560, doi. 10.1111/cge.12105
- By:
- Publication type:
- Article
PLP1 gene analysis in 88 patients with leukodystrophy.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 566, doi. 10.1111/cge.12103
- By:
- Publication type:
- Article
Early development and regression in Rett syndrome.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 572, doi. 10.1111/cge.12110
- By:
- Publication type:
- Article
Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 577, doi. 10.1111/cge.12095
- By:
- Publication type:
- Article
Mosaicism in von Hippel-Lindau disease with severe renal manifestations.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 581, doi. 10.1111/cge.12092
- By:
- Publication type:
- Article
High carrier frequency of 21-hydroxylase deficiency in Cyprus.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 585, doi. 10.1111/cge.12153
- By:
- Publication type:
- Article
Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 589, doi. 10.1111/cge.12086
- By:
- Publication type:
- Article
PTEN mosaicism with features of Cowden syndrome.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 593, doi. 10.1111/cge.12078
- By:
- Publication type:
- Article
190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 596, doi. 10.1111/cge.12113
- By:
- Publication type:
- Article
Utility of chromosomal microarray in five cases with cytogenetic abnormalities detected by traditional karyotype.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 600, doi. 10.1111/cge.12087
- By:
- Publication type:
- Article
Beckwith-Wiedemann syndrome: first epigenetic confirmed case report in China.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 603, doi. 10.1111/cge.12096
- By:
- Publication type:
- Article