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Christopher T Gordon

Showing results (31-40 of 84) with videos related to

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American Journal of Medical Genetics. Part A|March 29, 2014
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndromeChristopher T Gordon, Christopher M Cunniff, Glenn E Green, et al.
American Journal of Medical Genetics. Part A|July 2, 2022
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotypeMarta Pacio-Miguez, Manuel Parrón-Pajares, Christopher T Gordon, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong Yang Tan, Amanda Collins, Paul A James, et al.
Human Mutation|June 18, 2014
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequenceChristopher T Gordon, Catia Attanasio, Shipra Bhatia, et al.
Plos One|March 8, 2013
Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental diseaseGeorgina Caruana, Peter G Farlie, Adam H Hart, et al.
Human Mutation|October 6, 2011
Germline gain-of-function mutations of ALK disrupt central nervous system developmentLoïc de Pontual, Dania Kettaneh, Christopher T Gordon, et al.
Journal of Medical Genetics|November 5, 2011
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex developmentSabina Benko, Christopher T Gordon, Delphine Mallet, et al.
Human Molecular Genetics|April 9, 2022
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humansAnne Guimier, Loïc de Pontual, Stephen R Braddock, et al.
American Journal of Human Genetics|November 26, 2013
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark earsChristopher T Gordon, Florence Petit, Peter M Kroisel, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomaliesCaroline Alby, Lucile Boutaud, Bettina Bessières, et al.
Pageof 9

Showing results (31-40 of 84) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|March 29, 2014
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndromeChristopher T Gordon, Christopher M Cunniff, Glenn E Green, et al.
American Journal of Medical Genetics. Part A|July 2, 2022
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotypeMarta Pacio-Miguez, Manuel Parrón-Pajares, Christopher T Gordon, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong Yang Tan, Amanda Collins, Paul A James, et al.
Human Mutation|June 18, 2014
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequenceChristopher T Gordon, Catia Attanasio, Shipra Bhatia, et al.
Plos One|March 8, 2013
Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental diseaseGeorgina Caruana, Peter G Farlie, Adam H Hart, et al.
Human Mutation|October 6, 2011
Germline gain-of-function mutations of ALK disrupt central nervous system developmentLoïc de Pontual, Dania Kettaneh, Christopher T Gordon, et al.
Journal of Medical Genetics|November 5, 2011
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex developmentSabina Benko, Christopher T Gordon, Delphine Mallet, et al.
Human Molecular Genetics|April 9, 2022
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humansAnne Guimier, Loïc de Pontual, Stephen R Braddock, et al.
American Journal of Human Genetics|November 26, 2013
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark earsChristopher T Gordon, Florence Petit, Peter M Kroisel, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomaliesCaroline Alby, Lucile Boutaud, Bettina Bessières, et al.
Pageof 9