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Brian P Brooks

Showing results (131-140 of 158) with videos related to

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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.
Ophthalmology|April 23, 2013
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageBrian P Brooks, Amy H Thompson, Rachel J Bishop, et al.
American Journal of Medical Genetics. Part A|November 16, 2007
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literatureEmily S Doherty, Felicitas Lacbawan, Donald W Hadley, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|March 23, 2013
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndromeJoan C Han, Audrey Thurm, Christine Golden Williams, et al.
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.
Nature Communications|July 3, 2025
Variants in NR6A1 cause a novel oculo vertebral renal syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Research Square|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Communications Biology|September 13, 2022
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive opticsNancy Aguilera, Tao Liu, Andrew J Bower, et al.
Pageof 16

Showing results (131-140 of 158) with videos related to

Sort By:
Pageof 16
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.
Ophthalmology|April 23, 2013
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageBrian P Brooks, Amy H Thompson, Rachel J Bishop, et al.
American Journal of Medical Genetics. Part A|November 16, 2007
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literatureEmily S Doherty, Felicitas Lacbawan, Donald W Hadley, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|March 23, 2013
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndromeJoan C Han, Audrey Thurm, Christine Golden Williams, et al.
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.
Nature Communications|July 3, 2025
Variants in NR6A1 cause a novel oculo vertebral renal syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Research Square|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Communications Biology|September 13, 2022
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive opticsNancy Aguilera, Tao Liu, Andrew J Bower, et al.
Pageof 16