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A. L. Sertié

University of Toronto

5

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127

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Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

2002 American Journal of Human Genetics
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Refinamento da região cromossômica candidata para o gene que causa descolamento de retina e encefalocele occiptal (S de knobloch): de 5,9cm para 1,7cm do mapa genético de 21q22.3

1997
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Screening of c934g and c937g mutations among patients with craniosynostosis reveals two apert patients not caused by any of these mutations

1996
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Genes candidatos em fenda labial com ou sem palato e fenda palatina

1996
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Sindrome de knoloch: e causada por um gene de desenvolvimento?

1995
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