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Mark E Samuels

Showing results (11-20 of 56) with videos related to

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Hormone Research in Paediatrics|October 4, 2014
Somatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesisFabien Magne, Roman Serpa, Guy Van Vliet, et al.
Personalized Medicine|May 13, 2018
Whole-exome sequencing: opportunities in pediatric endocrinologyMark E Samuels, Caroline Hasselmann, Cheri L Deal, et al.
Molecular Pain|June 4, 2008
Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgiaMark E Samuels, Rene H M te Morsche, Mary E Lynch, et al.
Nature Reviews. Genetics|March 15, 2006
Human monogenic disorders - a source of novel drug targetsRyan R Brinkman, Marie-Pierre Dubé, Guy A Rouleau, et al.
Clinical Dysmorphology|March 11, 2014
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutationMaria Descartes, Kitiwan Rojnueangnit, Laura Cole, et al.
Thyroid : Official Journal of the American Thyroid Association|April 30, 2016
Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA SequencingFabien Magne, Bing Ge, Stéphanie Larrivée-Vanier, et al.
Plos One|April 29, 2009
Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype dataHaiyan Jiang, Andrew Orr, Duane L Guernsey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Is gene discovery research or diagnosis?Mark E Samuels, Andrew Orr, Duane L Guernsey, et al.
Scientific Reports|July 19, 2022
Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosisDina Nada, Cédric Julien, Simon Papillon-Cavanagh, et al.
Disease Models & Mechanisms|March 23, 2013
Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth diseaseLaurent P Bogdanik, James N Sleigh, Cong Tian, et al.
Pageof 6

Showing results (11-20 of 56) with videos related to

Sort By:
Pageof 6
Hormone Research in Paediatrics|October 4, 2014
Somatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesisFabien Magne, Roman Serpa, Guy Van Vliet, et al.
Personalized Medicine|May 13, 2018
Whole-exome sequencing: opportunities in pediatric endocrinologyMark E Samuels, Caroline Hasselmann, Cheri L Deal, et al.
Molecular Pain|June 4, 2008
Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgiaMark E Samuels, Rene H M te Morsche, Mary E Lynch, et al.
Nature Reviews. Genetics|March 15, 2006
Human monogenic disorders - a source of novel drug targetsRyan R Brinkman, Marie-Pierre Dubé, Guy A Rouleau, et al.
Clinical Dysmorphology|March 11, 2014
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutationMaria Descartes, Kitiwan Rojnueangnit, Laura Cole, et al.
Thyroid : Official Journal of the American Thyroid Association|April 30, 2016
Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA SequencingFabien Magne, Bing Ge, Stéphanie Larrivée-Vanier, et al.
Plos One|April 29, 2009
Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype dataHaiyan Jiang, Andrew Orr, Duane L Guernsey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Is gene discovery research or diagnosis?Mark E Samuels, Andrew Orr, Duane L Guernsey, et al.
Scientific Reports|July 19, 2022
Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosisDina Nada, Cédric Julien, Simon Papillon-Cavanagh, et al.
Disease Models & Mechanisms|March 23, 2013
Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth diseaseLaurent P Bogdanik, James N Sleigh, Cong Tian, et al.
Pageof 6