Works matching IS 00099163 AND DT 2009 AND VI 76 AND IP 6
Results: 14
Phenotype and genotype in females with POU3F4 mutations.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 558, doi. 10.1111/j.1399-0004.2009.01215.x
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- Article
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 524, doi. 10.1111/j.1399-0004.2009.01233.x
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Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother–newborn pairs from the general population.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 511, doi. 10.1111/j.1399-0004.2009.01237.x
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Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 552, doi. 10.1111/j.1399-0004.2009.01242.x
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A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).
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- Clinical Genetics, 2009, v. 76, n. 6, p. 569, doi. 10.1111/j.1399-0004.2009.01244.x
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General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 544, doi. 10.1111/j.1399-0004.2009.01245.x
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- Article
Novel PORCN mutations in focal dermal hypoplasia.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 535, doi. 10.1111/j.1399-0004.2009.01248.x
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The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 564, doi. 10.1111/j.1399-0004.2009.01251.x
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CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 577, doi. 10.1111/j.1399-0004.2009.01252.x
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Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 573, doi. 10.1111/j.1399-0004.2009.01262.x
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Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 503, doi. 10.1111/j.1399-0004.2009.01274.x
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Sex chromosome sequencing: X-citing findings in mental retardation.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 497, doi. 10.1111/j.1399-0004.2009.01295.x
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Non-coding regulatory genetics of limb malformations.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 499, doi. 10.1111/j.1399-0004.2009.01296.x
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- Article
STIL on my small brain: a new gene for microcephaly.
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- Clinical Genetics, 2009, v. 76, n. 6, p. 501, doi. 10.1111/j.1399-0004.2009.01297.x
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- Article