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Gavin Arno

Showing results (121-130 of 185) with videos related to

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Circulation. Cardiovascular Genetics|March 12, 2015
Aortic Disease Presentation and Outcome Associated With ACTA2 MutationsEllen S Regalado, Dong-chuan Guo, Siddharth Prakash, et al.
BMC Cardiovascular Disorders|July 25, 2019
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsyHariharan Raju, James S Ware, Jonathan R Skinner, et al.
JAMA Ophthalmology|May 26, 2017
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal DegenerationCristy A Ku, Sarah Hull, Gavin Arno, et al.
Scientific Reports|June 14, 2020
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype AssociationYu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
American Journal of Human Genetics|January 25, 2024
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunctionMiriam Bauwens, Elifnaz Celik, Dinah Zur, et al.
Translational Vision Science & Technology|August 22, 2020
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with <i>GUCY2D</i>-Associated Retinal DisorderXiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
Ophthalmology|August 7, 2022
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX GeneSamar Yahya, Claire E L Smith, James A Poulter, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 7, 2026
Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studiesSrishti Silvano, Van Annika Rick-Lenze, James Bagnall, et al.
JAMA Ophthalmology|March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal DystrophyRachel L Taylor, Gavin Arno, James A Poulter, et al.
Genome Medicine|December 12, 2018
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingAlba Sanchis-Juan, Jonathan Stephens, Courtney E French, et al.
Pageof 19

Showing results (121-130 of 185) with videos related to

Sort By:
Pageof 19
Circulation. Cardiovascular Genetics|March 12, 2015
Aortic Disease Presentation and Outcome Associated With ACTA2 MutationsEllen S Regalado, Dong-chuan Guo, Siddharth Prakash, et al.
BMC Cardiovascular Disorders|July 25, 2019
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsyHariharan Raju, James S Ware, Jonathan R Skinner, et al.
JAMA Ophthalmology|May 26, 2017
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal DegenerationCristy A Ku, Sarah Hull, Gavin Arno, et al.
Scientific Reports|June 14, 2020
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype AssociationYu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
American Journal of Human Genetics|January 25, 2024
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunctionMiriam Bauwens, Elifnaz Celik, Dinah Zur, et al.
Translational Vision Science & Technology|August 22, 2020
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with <i>GUCY2D</i>-Associated Retinal DisorderXiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
Ophthalmology|August 7, 2022
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX GeneSamar Yahya, Claire E L Smith, James A Poulter, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 7, 2026
Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studiesSrishti Silvano, Van Annika Rick-Lenze, James Bagnall, et al.
JAMA Ophthalmology|March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal DystrophyRachel L Taylor, Gavin Arno, James A Poulter, et al.
Genome Medicine|December 12, 2018
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingAlba Sanchis-Juan, Jonathan Stephens, Courtney E French, et al.
Pageof 19