Works matching IS 00099163 AND DT 2009 AND VI 75 AND IP 2
Results: 21
Huntington’s disease-like 2 and apparent ancestry.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Response to Tumas et al.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 195, doi. 10.1111/j.1399-0004.2008.01074.x
- By:
- Publication type:
- Article
Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16.1, including GPR63 and FUT9.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 157, doi. 10.1111/j.1399-0004.2008.01079.x
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- Publication type:
- Article
Finding genes underlying human disease.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 101, doi. 10.1111/j.1399-0004.2008.01083.x
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- Publication type:
- Article
PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 190, doi. 10.1111/j.1399-0004.2008.01085.x
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- Publication type:
- Article
Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 163, doi. 10.1111/j.1399-0004.2008.01097.x
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- Publication type:
- Article
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 185, doi. 10.1111/j.1399-0004.2008.01100.x
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- Publication type:
- Article
Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 169, doi. 10.1111/j.1399-0004.2008.01101.x
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- Publication type:
- Article
Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 180, doi. 10.1111/j.1399-0004.2008.01110.x
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- Publication type:
- Article
Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 175, doi. 10.1111/j.1399-0004.2008.01113.x
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- Publication type:
- Article
Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 ( FGFR3) in Portugal.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 150, doi. 10.1111/j.1399-0004.2008.01123.x
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- Publication type:
- Article
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 141, doi. 10.1111/j.1399-0004.2008.01125.x
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- Publication type:
- Article
Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 133, doi. 10.1111/j.1399-0004.2008.01131.x
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- Publication type:
- Article
The genetics of brachyolmia: between cilia and cell volume regulation.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 118, doi. 10.1111/j.1399-0004.2008.01140_1.x
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- Publication type:
- Article
Digital clubbing: finally, a gene.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 119, doi. 10.1111/j.1399-0004.2008.01140_2.x
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- Publication type:
- Article
A short-lived mRNA linked to blindness.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 121, doi. 10.1111/j.1399-0004.2008.01140_3.x
- By:
- Publication type:
- Article
Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 124, doi. 10.1111/j.1399-0004.2008.01146.x
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- Publication type:
- Article
Cystic kidney diseases and planar cell polarity signaling.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 2, p. 107, doi. 10.1111/j.1399-0004.2008.01148.x
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- Publication type:
- Article