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David R FitzPatrick

Showing results (91-100 of 144) with videos related to

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Nature Communications|January 28, 2021
The contribution of X-linked coding variation to severe developmental disordersHilary C Martin, Eugene J Gardner, Kaitlin E Samocha, et al.
Nature Genetics|May 10, 2011
Mutations in CEP57 cause mosaic variegated aneuploidy syndromeKatie Snape, Sandra Hanks, Elise Ruark, et al.
Science (New York, N.Y.)|October 26, 2013
Fine tuning of craniofacial morphology by distant-acting enhancersCatia Attanasio, Alex S Nord, Yiwen Zhu, et al.
Plos Genetics|March 12, 2019
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathyMark T Handley, Kaalak Reddy, Jimi Wills, et al.
Human Molecular Genetics|June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe Rainger, Hemant Bengani, Leigh Campbell, et al.
Nature Communications|April 25, 2015
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosomeMagali Naville, Minaka Ishibashi, Marco Ferg, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
Journal of Medical Genetics|March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
American Journal of Human Genetics|May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesLaura Southgate, Rajiv D Machado, Katie M Snape, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
Pageof 15

Showing results (91-100 of 144) with videos related to

Sort By:
Pageof 15
Nature Communications|January 28, 2021
The contribution of X-linked coding variation to severe developmental disordersHilary C Martin, Eugene J Gardner, Kaitlin E Samocha, et al.
Nature Genetics|May 10, 2011
Mutations in CEP57 cause mosaic variegated aneuploidy syndromeKatie Snape, Sandra Hanks, Elise Ruark, et al.
Science (New York, N.Y.)|October 26, 2013
Fine tuning of craniofacial morphology by distant-acting enhancersCatia Attanasio, Alex S Nord, Yiwen Zhu, et al.
Plos Genetics|March 12, 2019
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathyMark T Handley, Kaalak Reddy, Jimi Wills, et al.
Human Molecular Genetics|June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe Rainger, Hemant Bengani, Leigh Campbell, et al.
Nature Communications|April 25, 2015
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosomeMagali Naville, Minaka Ishibashi, Marco Ferg, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
Journal of Medical Genetics|March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
American Journal of Human Genetics|May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesLaura Southgate, Rajiv D Machado, Katie M Snape, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
Pageof 15