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David R FitzPatrick

Showing results (111-120 of 144) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2Hemant Bengani, Mark Handley, Mohsan Alvi, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Nature|December 6, 2023
A human embryonic limb cell atlas resolved in space and timeBao Zhang, Peng He, John E G Lawrence, et al.
Nature Genetics|February 24, 2009
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceSabina Benko, Judy A Fantes, Jeanne Amiel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
Lancet (London, England)|December 23, 2014
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataCaroline F Wright, Tomas W Fitzgerald, Wendy D Jones, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
Plos Genetics|July 14, 2011
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Plos Genetics|December 27, 2018
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and MiceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Pageof 15

Showing results (111-120 of 144) with videos related to

Sort By:
Pageof 15
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2Hemant Bengani, Mark Handley, Mohsan Alvi, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Nature|December 6, 2023
A human embryonic limb cell atlas resolved in space and timeBao Zhang, Peng He, John E G Lawrence, et al.
Nature Genetics|February 24, 2009
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceSabina Benko, Judy A Fantes, Jeanne Amiel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
Lancet (London, England)|December 23, 2014
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataCaroline F Wright, Tomas W Fitzgerald, Wendy D Jones, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
Plos Genetics|July 14, 2011
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Plos Genetics|December 27, 2018
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and MiceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Pageof 15