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Ophthalmology
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October 3, 2002
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation
Matthew A Lines, Marc Hébert, Kerry E McTaggart, et al.
Neurology. Genetics
|
July 2, 2020
A splice variant in <i>ATAD3A</i> expands the clinical and genetic spectrum of Harel-Yoon syndrome
Ilana Hanes, Hugh J McMillan, Yoko Ito, et al.
South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
|
December 24, 2021
Secondary polycythaemia with elevated carbon monoxide levels due to hookah pipe smoking: A public health concern
T Moodley, K T Mannaru, A Hugo, et al.
Scientific Reports
|
November 24, 2021
A new automated tool to quantify nucleoid distribution within mitochondrial networks
Hema Saranya Ilamathi, Mathieu Ouellet, Rasha Sabouny, et al.
JIMD Reports
|
November 14, 2013
Danon Disease Due to a Novel LAMP2 Microduplication
Matthew A Lines, Stacy Hewson, William Halliday, et al.
Human Molecular Genetics
|
February 2, 2006
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis
Fred B Berry, Matthew A Lines, J Martin Oas, et al.
American Journal of Medical Genetics. Part A
|
June 12, 2021
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only
Anne Benner, Yazeid Alhaidan, Matthew A Lines, et al.
Bioorganic & Medicinal Chemistry Letters
|
December 3, 2014
Probing of CD4 binding pocket of HIV-1 gp120 glycoprotein using unnatural phenylalanine analogues
Xiaobo Yu, Poulami Talukder, Chandrabali Bhattacharya, et al.
Iscience
|
August 3, 2023
Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregation
Hema Saranya Ilamathi, Sara Benhammouda, Amel Lounas, et al.
JIMD Reports
|
August 1, 2013
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation
Matthew A Lines, C Anthony Rupar, Jack W Rip, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 67) with videos related to
Sort By:
Page
of 7
Ophthalmology
|
October 3, 2002
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation
Matthew A Lines, Marc Hébert, Kerry E McTaggart, et al.
Neurology. Genetics
|
July 2, 2020
A splice variant in <i>ATAD3A</i> expands the clinical and genetic spectrum of Harel-Yoon syndrome
Ilana Hanes, Hugh J McMillan, Yoko Ito, et al.
South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
|
December 24, 2021
Secondary polycythaemia with elevated carbon monoxide levels due to hookah pipe smoking: A public health concern
T Moodley, K T Mannaru, A Hugo, et al.
Scientific Reports
|
November 24, 2021
A new automated tool to quantify nucleoid distribution within mitochondrial networks
Hema Saranya Ilamathi, Mathieu Ouellet, Rasha Sabouny, et al.
JIMD Reports
|
November 14, 2013
Danon Disease Due to a Novel LAMP2 Microduplication
Matthew A Lines, Stacy Hewson, William Halliday, et al.
Human Molecular Genetics
|
February 2, 2006
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis
Fred B Berry, Matthew A Lines, J Martin Oas, et al.
American Journal of Medical Genetics. Part A
|
June 12, 2021
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only
Anne Benner, Yazeid Alhaidan, Matthew A Lines, et al.
Bioorganic & Medicinal Chemistry Letters
|
December 3, 2014
Probing of CD4 binding pocket of HIV-1 gp120 glycoprotein using unnatural phenylalanine analogues
Xiaobo Yu, Poulami Talukder, Chandrabali Bhattacharya, et al.
Iscience
|
August 3, 2023
Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregation
Hema Saranya Ilamathi, Sara Benhammouda, Amel Lounas, et al.
JIMD Reports
|
August 1, 2013
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation
Matthew A Lines, C Anthony Rupar, Jack W Rip, et al.
Page
of 7