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Thomas C Markello

Showing results (41-50 of 49) with videos related to

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Molecular Genetics and Metabolism|May 7, 2015
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam, Gretchen A Golas, Mariska Davids, et al.
American Journal of Human Genetics|June 4, 2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, et al.
Genetics in Medicine Open|March 25, 2025
Variants in <i>WASHC3</i>, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphismYoun Hee Jee, Julian C Lui, Dana Marafi, et al.
American Journal of Human Genetics|September 7, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMarie Morimoto, Helen Waller-Evans, Zineb Ammous, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
Annals of Neurology|October 9, 2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defectKyle A Metz, Xinchen Teng, Isabelle Coppens, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
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Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
Molecular Genetics and Metabolism|May 7, 2015
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam, Gretchen A Golas, Mariska Davids, et al.
American Journal of Human Genetics|June 4, 2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, et al.
Genetics in Medicine Open|March 25, 2025
Variants in <i>WASHC3</i>, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphismYoun Hee Jee, Julian C Lui, Dana Marafi, et al.
American Journal of Human Genetics|September 7, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMarie Morimoto, Helen Waller-Evans, Zineb Ammous, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
Annals of Neurology|October 9, 2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defectKyle A Metz, Xinchen Teng, Isabelle Coppens, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
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