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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 28, 2019
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system
Kenneth D Mandl, Tracy Glauser, Ian D Krantz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 5, 2019
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system
Kenneth D Mandl, Tracy Glauser, Ian D Krantz, et al.
European Journal of Endocrinology
|
January 16, 2026
International guideline on genetic testing of children with short stature
Andrew Dauber, Alexander A L Jorge, Ola Nilsson, et al.
American Journal of Human Genetics
|
April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
Vincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 22, 2016
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, et al.
American Journal of Human Genetics
|
July 16, 2021
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
Peter Gergics, Cathy Smith, Hironori Bando, et al.
Hormone Research in Paediatrics
|
September 13, 2019
Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective
Paulo F Collett-Solberg, Geoffrey Ambler, Philippe F Backeljauw, et al.
American Journal of Human Genetics
|
April 2, 2019
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
Illja J Diets, Roos van der Donk, Kristina Baltrunaite, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Christine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Christine Shieh, Natasha Jones, Brigitte Vanle, et al.
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Search research articles
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Showing results (131-140 of 144) with videos related to
Sort By:
Page
of 15
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 28, 2019
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system
Kenneth D Mandl, Tracy Glauser, Ian D Krantz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 5, 2019
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system
Kenneth D Mandl, Tracy Glauser, Ian D Krantz, et al.
European Journal of Endocrinology
|
January 16, 2026
International guideline on genetic testing of children with short stature
Andrew Dauber, Alexander A L Jorge, Ola Nilsson, et al.
American Journal of Human Genetics
|
April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
Vincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 22, 2016
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, et al.
American Journal of Human Genetics
|
July 16, 2021
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
Peter Gergics, Cathy Smith, Hironori Bando, et al.
Hormone Research in Paediatrics
|
September 13, 2019
Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective
Paulo F Collett-Solberg, Geoffrey Ambler, Philippe F Backeljauw, et al.
American Journal of Human Genetics
|
April 2, 2019
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
Illja J Diets, Roos van der Donk, Kristina Baltrunaite, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Christine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Christine Shieh, Natasha Jones, Brigitte Vanle, et al.
Page
of 15