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Author/Creator Malcolm, Sue

1. Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots. Issue 10 (15th July 2014)

Authors:
Baux, David; Blanchet, Catherine; Hamel, Christian; Meunier, Isabelle; Larrieu, Lise; Faugère, Valérie; Vaché, Christel; Castorina, Pierangela; Puech, Bernard; Bonneau, Dominique; Malcolm, Sue; Claustres, Mireille; Roux, Anne‐Françoise
Journal:
Human mutation
Issue:
Volume 35:Issue 10(2014:Oct.)
Page Start:
1179
Record Type:
Journal Article
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2. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?. Issue 1 (1st January 2000)

Authors:
Reardon, William; Smith, Anne; Honour, John W; Hindmarsh, Peter; Das, Debipriya; Rumsby, Gill; Nelson, Isabelle; Malcolm, Sue; Adès, Lesley; Sillence, David; Kumar, Dhavendra; DeLozier-Blanchet, Celia; McKee, Shane; Kelly, Thaddeus; McKeehan, Wallace L; Baraitser, Michael; Winter, Robin M
Journal:
Journal of medical genetics
Issue:
Volume 37:Issue 1(2000)
Page Start:
26
Record Type:
Journal Article
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3. Experience of targeted Usher exome sequencing as a clinical test. Issue 1 (10th July 2013)

Authors:
Besnard, Thomas; García‐García, Gema; Baux, David; Vaché, Christel; Faugère, Valérie; Larrieu, Lise; Léonard, Susana; Millan, Jose M.; Malcolm, Sue; Claustres, Mireille; Roux, Anne‐Françoise
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 1(2014:Jan.)
Page Start:
30
Record Type:
Journal Article
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