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Pediatrics
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October 10, 2012
Factors influencing participation in a population-based biorepository for childhood heart disease
Tanya Papaz, Mina Safi, Ashok-Kumar Manickaraj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 28, 2012
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta
Wayne A Cabral, Aileen M Barnes, Adebowale Adeyemo, et al.
American Journal of Human Genetics
|
July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies
Gabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
American Journal of Human Genetics
|
December 20, 2011
Mutations in EZH2 cause Weaver syndrome
William T Gibson, Rebecca L Hood, Shing Hei Zhan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 3, 2021
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care
Salma Shickh, Sara A Rafferty, Marc Clausen, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2018
Warsaw breakage syndrome: Further clinical and genetic delineation
Ebba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, et al.
Developmental Biology
|
September 24, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models
Andrés Hernández-García, Bum Jun Kim, David Chitayat, et al.
Elife
|
May 1, 2016
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition
Jeremy L Praissman, Tobias Willer, M Osman Sheikh, et al.
Human Molecular Genetics
|
January 30, 2013
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
Karen Buysse, Moniek Riemersma, Gareth Powell, et al.
American Journal of Human Genetics
|
October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
Page
of 36
Search research articles
Search
Showing results (261-270 of 354) with videos related to
Sort By:
Page
of 36
Pediatrics
|
October 10, 2012
Factors influencing participation in a population-based biorepository for childhood heart disease
Tanya Papaz, Mina Safi, Ashok-Kumar Manickaraj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 28, 2012
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta
Wayne A Cabral, Aileen M Barnes, Adebowale Adeyemo, et al.
American Journal of Human Genetics
|
July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies
Gabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
American Journal of Human Genetics
|
December 20, 2011
Mutations in EZH2 cause Weaver syndrome
William T Gibson, Rebecca L Hood, Shing Hei Zhan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 3, 2021
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care
Salma Shickh, Sara A Rafferty, Marc Clausen, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2018
Warsaw breakage syndrome: Further clinical and genetic delineation
Ebba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, et al.
Developmental Biology
|
September 24, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models
Andrés Hernández-García, Bum Jun Kim, David Chitayat, et al.
Elife
|
May 1, 2016
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition
Jeremy L Praissman, Tobias Willer, M Osman Sheikh, et al.
Human Molecular Genetics
|
January 30, 2013
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
Karen Buysse, Moniek Riemersma, Gareth Powell, et al.
American Journal of Human Genetics
|
October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
Page
of 36