Suchergebnisse - Flinter, Frances

Medical genetics: advances in brief: Editorial: our educational challenge von Flinter, Frances

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Medical genetics: advances in brief: Application of carrier testing to genetic counselling for X-linked agammaglobulinemla von Flinter, Frances

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Medical genetics: advances in brief: A healthy male with compound and double heterozygosities for ΔF508, F508C and M470V in exon 10 of the cystic fibrosis gene von Flinter, Frances

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Medical genetics: advances in brief: Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy von Flinter, Frances

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Medical genetics: advances in brief: Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)(n) repeat variation and selection against extreme ex... von Flinter, Frances

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Medical genetics: advances in brief: Huntington disease without CAG expansion: phenocopies or errors in assignment? von Flinter, Frances

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Medical genetics: advances in brief: Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1 von Flinter, Frances

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Medical genetics: advances in brief: A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 ca... von Flinter, Frances

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Medical genetics: advances in brief: The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation von Flinter, Frances

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Medical genetics: advances in brief: Proceed with care: direct predictive testing for Huntington disease von Flinter, Frances

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Medical genetics: advances in brief von Flinter, Frances

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Medical genetics: advances in brief: Parent-of-origin effects in multiple endocrine neoplasia type 2B von Flinter, Frances

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Medical genetics: advances in brief: Background statement. Genetic testing and insurance von Flinter, Frances

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Medical genetics: advances in brief: Prenatal genetic counselling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counsel... von Flinter, Frances

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Medical genetics: advances in brief: Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations von Flinter, Frances

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Medical genetics: advances in brief: Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal ori... von Flinter, Frances

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Medical genetics: advances in brief: Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted... von Flinter, Frances

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Autosomal Dominant Polycystic Kidney Disease von Flinter, Frances

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Medical genetics: advances in brief: Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome von Flinter, Frances

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Medical genetics: advances in brief: X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene von Flinter, Frances

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