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B Hufnagel

Showing results (61-70 of 156) with videos related to

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Human Mutation|December 10, 2019
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular colobomaVijay K Kalaskar, Ramakrishna P Alur, LeeAnn K Li, et al.
Genes & Development|December 18, 2020
Conserved Gsx2/Ind homeodomain monomer versus homodimer DNA binding defines regulatory outcomes in flies and miceJoseph Salomone, Shenyue Qin, Temesgen D Fufa, et al.
Communications Medicine|May 30, 2026
A comparative survey of functional evidence use in hearing and vision loss geneticsR Arda Inan, Marina T DiStefano, Sami S Amr, et al.
European Journal of Medical Genetics|December 16, 2014
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff diseaseIves T Villamizar-Schiller, Laudy A Pabón, Sophia B Hufnagel, et al.
Genes|April 23, 2022
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked DisorderChelsea Bender, Elizabeth Geena Woo, Bin Guan, et al.
Retina (Philadelphia, Pa.)|March 13, 2024
OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA : A Novel Optical Coherence Tomography Finding Common in RP1 -Related RetinopathyIoannis S Dimopoulos, Laryssa A Huryn, Robert B Hufnagel, et al.
Human Mutation|April 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique <i>ABCA4</i> Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP FrameworkStéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2020
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literatureMalena Daich Varela, Priyam Jani, Wadih M Zein, et al.
Ophthalmic Genetics|March 15, 2021
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicismMalena Daich Varela, Robert B Hufnagel, Bin Guan, et al.
American Journal of Ophthalmology|May 21, 2023
Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic CorrelatesMaximilian Pfau, Laryssa A Huryn, Marisa P Boyle, et al.
Pageof 16

Showing results (61-70 of 156) with videos related to

Sort By:
Pageof 16
Human Mutation|December 10, 2019
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular colobomaVijay K Kalaskar, Ramakrishna P Alur, LeeAnn K Li, et al.
Genes & Development|December 18, 2020
Conserved Gsx2/Ind homeodomain monomer versus homodimer DNA binding defines regulatory outcomes in flies and miceJoseph Salomone, Shenyue Qin, Temesgen D Fufa, et al.
Communications Medicine|May 30, 2026
A comparative survey of functional evidence use in hearing and vision loss geneticsR Arda Inan, Marina T DiStefano, Sami S Amr, et al.
European Journal of Medical Genetics|December 16, 2014
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff diseaseIves T Villamizar-Schiller, Laudy A Pabón, Sophia B Hufnagel, et al.
Genes|April 23, 2022
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked DisorderChelsea Bender, Elizabeth Geena Woo, Bin Guan, et al.
Retina (Philadelphia, Pa.)|March 13, 2024
OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA : A Novel Optical Coherence Tomography Finding Common in RP1 -Related RetinopathyIoannis S Dimopoulos, Laryssa A Huryn, Robert B Hufnagel, et al.
Human Mutation|April 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique <i>ABCA4</i> Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP FrameworkStéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2020
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literatureMalena Daich Varela, Priyam Jani, Wadih M Zein, et al.
Ophthalmic Genetics|March 15, 2021
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicismMalena Daich Varela, Robert B Hufnagel, Bin Guan, et al.
American Journal of Ophthalmology|May 21, 2023
Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic CorrelatesMaximilian Pfau, Laryssa A Huryn, Marisa P Boyle, et al.
Pageof 16