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Human Molecular Genetics
|
May 10, 2017
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome
Felicia Cao, Linchao Lu, Steven A Abrams, et al.
American Journal of Medical Genetics. Part A
|
March 14, 2019
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy
Allison Tam, Noura Salem AlDhaheri, Krupa Mysore, et al.
Stem Cells Translational Medicine
|
March 29, 2018
Genome Editing in Neuroepithelial Stem Cells to Generate Human Neurons with High Adenosine-Releasing Capacity
Daniel Poppe, Jonas Doerr, Marion Schneider, et al.
Journal of Medical Genetics
|
May 21, 2020
De novo variants in <i>SIAH1,</i> encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
Julien Buratti, Lei Ji, Boris Keren, et al.
Environmental Science & Technology
|
November 18, 2021
Quantification of Spatial and Temporal Trends in Atmospheric Mercury Deposition across Canada over the Past 30 Years
Sarah L Roberts, Jane L Kirk, Derek C G Muir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 5, 2018
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study
Mahim Jain, Allison Tam, Jay R Shapiro, et al.
Clinical Genetics
|
August 29, 2018
A multicenter study to evaluate pulmonary function in osteogenesis imperfecta
Allison Tam, Shan Chen, Evan Schauer, et al.
Human Genetics
|
April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
Dong Li, Michael E March, Paola Fortugno, et al.
NPJ Genomic Medicine
|
May 26, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 23) with videos related to
Sort By:
Page
of 3
Human Molecular Genetics
|
May 10, 2017
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome
Felicia Cao, Linchao Lu, Steven A Abrams, et al.
American Journal of Medical Genetics. Part A
|
March 14, 2019
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy
Allison Tam, Noura Salem AlDhaheri, Krupa Mysore, et al.
Stem Cells Translational Medicine
|
March 29, 2018
Genome Editing in Neuroepithelial Stem Cells to Generate Human Neurons with High Adenosine-Releasing Capacity
Daniel Poppe, Jonas Doerr, Marion Schneider, et al.
Journal of Medical Genetics
|
May 21, 2020
De novo variants in <i>SIAH1,</i> encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
Julien Buratti, Lei Ji, Boris Keren, et al.
Environmental Science & Technology
|
November 18, 2021
Quantification of Spatial and Temporal Trends in Atmospheric Mercury Deposition across Canada over the Past 30 Years
Sarah L Roberts, Jane L Kirk, Derek C G Muir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 5, 2018
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study
Mahim Jain, Allison Tam, Jay R Shapiro, et al.
Clinical Genetics
|
August 29, 2018
A multicenter study to evaluate pulmonary function in osteogenesis imperfecta
Allison Tam, Shan Chen, Evan Schauer, et al.
Human Genetics
|
April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
Dong Li, Michael E March, Paola Fortugno, et al.
NPJ Genomic Medicine
|
May 26, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
Page
of 3