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Sarah Collins

Showing results (221-230 of 232) with videos related to

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G3 (Bethesda, Md.)|August 8, 2023
Genome Report: chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus)Elizabeth Dong Nguyen, Vahid Nikoonejad Fard, Bernard Y Kim, et al.
The Patient|October 6, 2016
Successful Stepwise Development of Patient Research Partnership: 14 Years' Experience of Actions and Consequences in Outcome Measures in Rheumatology (OMERACT)Maarten de Wit, John R Kirwan, Peter Tugwell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephalyNataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, 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.
International Urogynecology Journal|July 2, 2026
A Global Consensus Conference on Surgical Management of Primary Uterovaginal Prolapse and Lower Urinary Tract Dysfunction: Combining Evidence with Expert OpinionAnkita Gupta, Cara L Grimes, Gopal Badlani, et al.
American Journal of Human Genetics|November 5, 2016
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantNataliya Di Donato, Ying Y Jean, A Murat Maga, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyDiana Alcantara, Andrew E Timms, Karen Gripp, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|March 14, 2023
Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosisKevin W Southern, Carlo Castellani, Elise Lammertyn, et al.
JAMA Neurology|May 10, 2016
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary MosaicismGhayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, et al.
Pageof 24

Showing results (221-230 of 232) with videos related to

Sort By:
Pageof 24
G3 (Bethesda, Md.)|August 8, 2023
Genome Report: chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus)Elizabeth Dong Nguyen, Vahid Nikoonejad Fard, Bernard Y Kim, et al.
The Patient|October 6, 2016
Successful Stepwise Development of Patient Research Partnership: 14 Years' Experience of Actions and Consequences in Outcome Measures in Rheumatology (OMERACT)Maarten de Wit, John R Kirwan, Peter Tugwell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephalyNataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, 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.
International Urogynecology Journal|July 2, 2026
A Global Consensus Conference on Surgical Management of Primary Uterovaginal Prolapse and Lower Urinary Tract Dysfunction: Combining Evidence with Expert OpinionAnkita Gupta, Cara L Grimes, Gopal Badlani, et al.
American Journal of Human Genetics|November 5, 2016
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantNataliya Di Donato, Ying Y Jean, A Murat Maga, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyDiana Alcantara, Andrew E Timms, Karen Gripp, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|March 14, 2023
Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosisKevin W Southern, Carlo Castellani, Elise Lammertyn, et al.
JAMA Neurology|May 10, 2016
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary MosaicismGhayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, et al.
Pageof 24