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David R Fitzpatrick

Showing results (51-60 of 153) with videos related to

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Molecular Vision|December 4, 2009
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunctionRobert H Henderson, Kathleen A Williamson, Joanna S Kennedy, et al.
American Journal of Medical Genetics. Part A|October 3, 2008
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughtersAdele Schneider, Tanya M Bardakjian, Jie Zhou, et al.
Molecular Genetics & Genomic Medicine|July 22, 2016
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disabilityWayne W K Lam, John J Millichap, Dinesh C Soares, et al.
Human Mutation|September 9, 2014
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two familiesSofie Metsu, Jacqueline K Rainger, Kim Debacker, et al.
Nature|March 22, 2018
De novo mutations in regulatory elements in neurodevelopmental disordersPatrick J Short, Jeremy F McRae, Giuseppe Gallone, et al.
Nature Communications|April 26, 2024
Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retinaBirthe Dorgau, Joseph Collin, Agata Rozanska, et al.
European Journal of Immunology|October 16, 2004
Paradoxical role of programmed death-1 ligand 2 in Th2 immune responses in vitro and in a mouse asthma model in vivoEzogelin Oflazoglu, David A Swart, Penny Anders-Bartholo, et al.
Human Molecular Genetics|December 9, 2010
Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papillaRachel Berry, Louise Harewood, Liming Pei, et al.
American Journal of Medical Genetics. Part A|November 13, 2007
Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiencyFrédéric Lirussi, Laurence Jonard, Véronique Gaston, et al.
Nature Genetics|March 4, 2003
Mutations in SOX2 cause anophthalmiaJudy Fantes, Nicola K Ragge, Sally-Ann Lynch, et al.
Pageof 16

Showing results (51-60 of 153) with videos related to

Sort By:
Pageof 16
Molecular Vision|December 4, 2009
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunctionRobert H Henderson, Kathleen A Williamson, Joanna S Kennedy, et al.
American Journal of Medical Genetics. Part A|October 3, 2008
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughtersAdele Schneider, Tanya M Bardakjian, Jie Zhou, et al.
Molecular Genetics & Genomic Medicine|July 22, 2016
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disabilityWayne W K Lam, John J Millichap, Dinesh C Soares, et al.
Human Mutation|September 9, 2014
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two familiesSofie Metsu, Jacqueline K Rainger, Kim Debacker, et al.
Nature|March 22, 2018
De novo mutations in regulatory elements in neurodevelopmental disordersPatrick J Short, Jeremy F McRae, Giuseppe Gallone, et al.
Nature Communications|April 26, 2024
Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retinaBirthe Dorgau, Joseph Collin, Agata Rozanska, et al.
European Journal of Immunology|October 16, 2004
Paradoxical role of programmed death-1 ligand 2 in Th2 immune responses in vitro and in a mouse asthma model in vivoEzogelin Oflazoglu, David A Swart, Penny Anders-Bartholo, et al.
Human Molecular Genetics|December 9, 2010
Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papillaRachel Berry, Louise Harewood, Liming Pei, et al.
American Journal of Medical Genetics. Part A|November 13, 2007
Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiencyFrédéric Lirussi, Laurence Jonard, Véronique Gaston, et al.
Nature Genetics|March 4, 2003
Mutations in SOX2 cause anophthalmiaJudy Fantes, Nicola K Ragge, Sally-Ann Lynch, et al.
Pageof 16