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Maurice van Steensel

Showing results (11-20 of 15) with videos related to

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Human Mutation|October 6, 2009
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) geneDerek H K Lim, Pauline K Rehal, Michael S Nahorski, et al.
American Journal of Human Genetics|December 19, 2012
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplexSandra M Pasternack, Melanie Refke, Elham Paknia, et al.
European Journal of Human Genetics : EJHG|October 10, 2013
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndromeGabrielle R Wilson, Jasmine Sunley, Katherine R Smith, et al.
Journal of the American Academy of Dermatology|July 21, 2010
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009Vinzenz Oji, Gianluca Tadini, Masashi Akiyama, et al.
Journal of Medical Genetics|February 27, 2023
Update of penetrance estimates in Birt-Hogg-Dubé syndromeFiona Jane Bruinsma, James G Dowty, Aung Ko Win, et al.
Pageof 2

Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 15 results.
Human Mutation|October 6, 2009
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) geneDerek H K Lim, Pauline K Rehal, Michael S Nahorski, et al.
American Journal of Human Genetics|December 19, 2012
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplexSandra M Pasternack, Melanie Refke, Elham Paknia, et al.
European Journal of Human Genetics : EJHG|October 10, 2013
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndromeGabrielle R Wilson, Jasmine Sunley, Katherine R Smith, et al.
Journal of the American Academy of Dermatology|July 21, 2010
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009Vinzenz Oji, Gianluca Tadini, Masashi Akiyama, et al.
Journal of Medical Genetics|February 27, 2023
Update of penetrance estimates in Birt-Hogg-Dubé syndromeFiona Jane Bruinsma, James G Dowty, Aung Ko Win, et al.
Pageof 2