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Human Molecular Genetics
|
January 9, 2009
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
Mika Asai-Coakwell, Curtis R French, Ming Ye, et al.
Biorxiv : the Preprint Server for Biology
|
June 5, 2026
Targeting melanosome pH is an effective method for the treatment of oculocutaneous albinism
Samuel J Grondin, Daniela St Pierre, David J Green, et al.
Journal of Medical Genetics
|
April 21, 2016
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
Thierry Vilboux, May Christine V Malicdan, Yun Min Chang, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation
Monika B Dolinska, Yuhong Wang, Nathan P Coussens, et al.
Scientific Reports
|
November 18, 2020
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
Lev Prasov, Bin Guan, Ehsan Ullah, et al.
JCI Insight
|
June 18, 2026
Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders
Monika B Dolinska, Yuhong A Wang, Nathan P Coussens, et al.
Investigative Ophthalmology & Visual Science
|
November 3, 2022
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure
Elangovan Boobalan, Amy H Thompson, Ramakrishna P Alur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 20, 2024
GM1 gangliosidosis type II: Results of a 10-year prospective study
Precilla D'Souza, Cristan Farmer, Jean M Johnston, et al.
The New England Journal of Medicine
|
February 8, 2008
Phenotype and course of Hutchinson-Gilford progeria syndrome
Melissa A Merideth, Leslie B Gordon, Sarah Clauss, et al.
JAMA Ophthalmology
|
December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport
Mukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
Page
of 16
Search research articles
Search
Showing results (141-150 of 158) with videos related to
Sort By:
Page
of 16
Human Molecular Genetics
|
January 9, 2009
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
Mika Asai-Coakwell, Curtis R French, Ming Ye, et al.
Biorxiv : the Preprint Server for Biology
|
June 5, 2026
Targeting melanosome pH is an effective method for the treatment of oculocutaneous albinism
Samuel J Grondin, Daniela St Pierre, David J Green, et al.
Journal of Medical Genetics
|
April 21, 2016
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
Thierry Vilboux, May Christine V Malicdan, Yun Min Chang, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation
Monika B Dolinska, Yuhong Wang, Nathan P Coussens, et al.
Scientific Reports
|
November 18, 2020
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
Lev Prasov, Bin Guan, Ehsan Ullah, et al.
JCI Insight
|
June 18, 2026
Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders
Monika B Dolinska, Yuhong A Wang, Nathan P Coussens, et al.
Investigative Ophthalmology & Visual Science
|
November 3, 2022
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure
Elangovan Boobalan, Amy H Thompson, Ramakrishna P Alur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 20, 2024
GM1 gangliosidosis type II: Results of a 10-year prospective study
Precilla D'Souza, Cristan Farmer, Jean M Johnston, et al.
The New England Journal of Medicine
|
February 8, 2008
Phenotype and course of Hutchinson-Gilford progeria syndrome
Melissa A Merideth, Leslie B Gordon, Sarah Clauss, et al.
JAMA Ophthalmology
|
December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport
Mukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
Page
of 16