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Cells
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August 9, 2024
Investigating Splice Defects in <i>USH2A</i> Using Targeted Long-Read Sequencing
Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, et al.
Investigative Ophthalmology & Visual Science
|
March 11, 2026
Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder
Siying Lin, Wendy D Tan, Anthony G Robson, et al.
BMC Ophthalmology
|
August 14, 2024
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
Jahangir Khan, Saaim Asif, Shamsul Ghani, et al.
Investigative Ophthalmology & Visual Science
|
June 6, 2025
Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness
Rola Ba-Abbad, Igor V Peshenko, Malena Daich Varela, et al.
Annals of Human Genetics
|
June 8, 2019
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan
Shazia Khan, Siying Lin, Gaurav V Harlalka, et al.
Ophthalmic Genetics
|
October 7, 2025
A novel missense <i>TUBB4B</i> variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss
Lauren Y Cao, Anna Duemler, Emily H Jung, et al.
American Journal of Human Genetics
|
September 3, 2024
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
Ana Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, et al.
Eye (London, England)
|
April 19, 2019
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families
Muhammad Shakil, Gaurav V Harlalka, Shamshad Ali, et al.
Journal of Medicinal Chemistry
|
May 26, 2026
Design and Evaluation of <sup>68</sup>Ga-Labeled Peptide-Based PET Probes for Noninvasive Imaging of ROR1 Expression in Tumor Models
Tao Yang, Qi An, Siying Lin, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
April 19, 2026
PIM1 kinase-regulated cellular metabolism sustains differentiation and function of effector CD8+ T cells during chronic viral infection
Ashley K Brown, Hongshen Niu, Jian Shen, et al.
Page
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Search research articles
Search
Showing results (51-60 of 102) with videos related to
Sort By:
Page
of 11
Cells
|
August 9, 2024
Investigating Splice Defects in <i>USH2A</i> Using Targeted Long-Read Sequencing
Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, et al.
Investigative Ophthalmology & Visual Science
|
March 11, 2026
Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder
Siying Lin, Wendy D Tan, Anthony G Robson, et al.
BMC Ophthalmology
|
August 14, 2024
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
Jahangir Khan, Saaim Asif, Shamsul Ghani, et al.
Investigative Ophthalmology & Visual Science
|
June 6, 2025
Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness
Rola Ba-Abbad, Igor V Peshenko, Malena Daich Varela, et al.
Annals of Human Genetics
|
June 8, 2019
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan
Shazia Khan, Siying Lin, Gaurav V Harlalka, et al.
Ophthalmic Genetics
|
October 7, 2025
A novel missense <i>TUBB4B</i> variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss
Lauren Y Cao, Anna Duemler, Emily H Jung, et al.
American Journal of Human Genetics
|
September 3, 2024
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
Ana Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, et al.
Eye (London, England)
|
April 19, 2019
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families
Muhammad Shakil, Gaurav V Harlalka, Shamshad Ali, et al.
Journal of Medicinal Chemistry
|
May 26, 2026
Design and Evaluation of <sup>68</sup>Ga-Labeled Peptide-Based PET Probes for Noninvasive Imaging of ROR1 Expression in Tumor Models
Tao Yang, Qi An, Siying Lin, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
April 19, 2026
PIM1 kinase-regulated cellular metabolism sustains differentiation and function of effector CD8+ T cells during chronic viral infection
Ashley K Brown, Hongshen Niu, Jian Shen, et al.
Page
of 11