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L Beales

Showing results (141-150 of 194) with videos related to

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Nature Genetics|May 1, 2007
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophyPhilip L Beales, Elizabeth Bland, Jonathan L Tobin, et al.
Journal of Medical Genetics|October 3, 2009
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mappingH M Harville, S Held, A Diaz-Font, et al.
Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.
Human Genetics|June 24, 2006
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivityErica R Eichers, Muhammad M Abd-El-Barr, Richard Paylor, et al.
American Journal of Medical Genetics. Part A|January 8, 2005
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studySusan J Moore, Jane S Green, Yanli Fan, et al.
Nature Genetics|March 6, 2012
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesiaHannah M Mitchison, Miriam Schmidts, Niki T Loges, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 30, 2008
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndromeJonathan L Tobin, Matt Di Franco, Erica Eichers, et al.
Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
Cells|November 24, 2023
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of <i>Bbs1</i>Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, et al.
Human Mutation|April 3, 2007
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL de Pontual, A Pelet, M Clement-Ziza, et al.
Pageof 20

Showing results (141-150 of 194) with videos related to

Sort By:
Pageof 20
Nature Genetics|May 1, 2007
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophyPhilip L Beales, Elizabeth Bland, Jonathan L Tobin, et al.
Journal of Medical Genetics|October 3, 2009
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mappingH M Harville, S Held, A Diaz-Font, et al.
Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.
Human Genetics|June 24, 2006
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivityErica R Eichers, Muhammad M Abd-El-Barr, Richard Paylor, et al.
American Journal of Medical Genetics. Part A|January 8, 2005
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studySusan J Moore, Jane S Green, Yanli Fan, et al.
Nature Genetics|March 6, 2012
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesiaHannah M Mitchison, Miriam Schmidts, Niki T Loges, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 30, 2008
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndromeJonathan L Tobin, Matt Di Franco, Erica Eichers, et al.
Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
Cells|November 24, 2023
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of <i>Bbs1</i>Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, et al.
Human Mutation|April 3, 2007
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL de Pontual, A Pelet, M Clement-Ziza, et al.
Pageof 20