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Author/Creator Friez, Michael J

1. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. Issue 4 (29th April 2016)

Authors:
Friez, Michael J; Brooks, Susan Sklower; Stevenson, Roger E; Field, Michael; Basehore, Monica J; Adès, Lesley C; Sebold, Courtney; McGee, Stephen; Saxon, Samantha; Skinner, Cindy; Craig, Maria E; Murray, Lucy; Simensen, Richard J; Yap, Ying Yzu; Shaw, Marie A; Gardner, Alison; Corbett, Mark; Kuma...
Journal:
BMJ open
Issue:
Volume 6:Issue 4(2016)
Page Start:
Record Type:
Journal Article
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2. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. Issue 7 (16th March 2007)

Authors:
Schwartz, Charles E; Tarpey, Patrick S; Lubs, Herbert A; Verloes, Alain; May, Melanie M; Risheg, Hiba; Friez, Michael J; Futreal, P Andrew; Edkins, Sarah; Teague, Jon; Briault, Sylvain; Skinner, Cindy; Bauer-Carlin, Astrid; Simensen, Richard J; Joseph, Sumy M; Jones, Julie R; Gecz, Josef; Stratto...
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 7(2007)
Page Start:
472
Record Type:
Journal Article
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