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Identification and functional analysis of mutations that cause spondylocostal dysostoses
A/Prof Sally L Dunwoodie, Victor Chang Cardiac Research Institute, Sydney, Australia
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Molecular genetic analysis of the multiple pterygium syndromes
Louise A Brueton, Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, United Kingdom
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Germline KRAS and BRAF mutations in cardio-facio-cutaneous (CFC) syndrome
Tetsuya Niihori, Department of Medical Genetics, Tohoku University School of Medicine, Japan
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A clinically significant NF1 genotype-phenotype correlation: absence of neurofibromas is associated with a c.2970_2972 delAAT of the NF1 gene
Prof Meena Upadhyaya, Institute of Medical Genetics, Heath Park, Cardiff, United Kingdom
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Gene dosage and williams syndrome
Dr May Tassabehji, The University of Manchester, United Kingdom
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Gtf2ird1 mutant mice exhibit social phenotypes of Williams-Beuren syndrome and show altered expression of genes important for neuronal migration
Lucy R Osborne, University of Toronto, Canada
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Genotype-phenotype correlations in Joubert syndrome
Dr Ian A Glass, Children's Hospital and University of Washington, Seattle, WA, United States
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Transcript levels of the intermediate size or grey zone FMR1 alleles are elevated in human male carriers, and correlate with the number of CGG repeats
Danuta Z Loesch, La Trobe University, Australia
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