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Anne Slavotinek

Showing results (111-120 of 147) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2023
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrumJessica R C Priestley, Ashish R Deshwar, Harsha Murthy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variationJessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, et al.
Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
BMC Medicine|November 4, 2021
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
The Lancet. Neurology|November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyGhayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
A randomized controlled trial of levodopa in patients with Angelman syndromeWen-Hann Tan, Lynne M Bird, Anjali Sadhwani, et al.
BMC Medicine|August 18, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
Pageof 15

Showing results (111-120 of 147) with videos related to

Sort By:
Pageof 15
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2023
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrumJessica R C Priestley, Ashish R Deshwar, Harsha Murthy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variationJessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, et al.
Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
BMC Medicine|November 4, 2021
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
The Lancet. Neurology|November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyGhayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
A randomized controlled trial of levodopa in patients with Angelman syndromeWen-Hann Tan, Lynne M Bird, Anjali Sadhwani, et al.
BMC Medicine|August 18, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
Pageof 15