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Andrew Dauber

Showing results (131-140 of 144) with videos related to

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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 systemKenneth 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 systemKenneth 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 statureAndrew 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 NeurodevelopmentVincenzo 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 MutationsAlexandra 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 deficiencyPeter 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 PerspectivePaulo 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 DysmorphismIllja 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 disorderChristine 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 disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Pageof 15

Showing results (131-140 of 144) with videos related to

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Pageof 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 systemKenneth 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 systemKenneth 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 statureAndrew 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 NeurodevelopmentVincenzo 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 MutationsAlexandra 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 deficiencyPeter 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 PerspectivePaulo 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 DysmorphismIllja 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 disorderChristine 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 disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Pageof 15