Search research articles
Contact Us
Filters
Showing results (31-40 of 68) with videos related to
Page
of 7
Sort By:
The Journal of Biological Chemistry
|
November 8, 2011
Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7
Markus Kunze, Georg Neuberger, Sebastian Maurer-Stroh, et al.
Human Genetics
|
August 13, 2021
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population
Tania Cruz Marino, Jessica Tardif, Josianne Leblanc, et al.
Biomolecules
|
January 28, 2026
Metabolomic Profiling Reveals Brain Lipid Alterations in <i>PEX7</i>-Deficient Models of Rhizomelic Chondrodysplasia Punctata
Riya Sankhe, Meredith I Williams, Wedad Fallatah, et al.
Journal of Medical Genetics
|
August 25, 2011
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing
Jacek Majewski, Zibo Wang, Irma Lopez, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2026
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials
Mattias Rudebeck, Nancy Braverman, Richard Chang, et al.
Plos One
|
September 14, 2018
PPARα-mediated peroxisome induction compensates PPARγ-deficiency in bronchiolar club cells
Srikanth Karnati, Gani Oruqaj, Harshavardhan Janga, et al.
Autophagy
|
May 20, 2017
The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders
Kelsey B Law, Dana Bronte-Tinkew, Erminia Di Pietro, et al.
Journal of Medical Genetics
|
July 26, 2011
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
Ahmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, et al.
Neurogenetics
|
June 22, 2014
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy
Alireza Kashani, Isabelle Thiffault, Marie-Emmanuelle Dilenge, et al.
JIMD Reports
|
September 6, 2021
Clinical utility of methionine restriction in adenosine kinase deficiency
Najmah Almuhsen, Simon-Pierre Guay, Marie Lefrancois, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 68) with videos related to
Sort By:
Page
of 7
The Journal of Biological Chemistry
|
November 8, 2011
Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7
Markus Kunze, Georg Neuberger, Sebastian Maurer-Stroh, et al.
Human Genetics
|
August 13, 2021
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population
Tania Cruz Marino, Jessica Tardif, Josianne Leblanc, et al.
Biomolecules
|
January 28, 2026
Metabolomic Profiling Reveals Brain Lipid Alterations in <i>PEX7</i>-Deficient Models of Rhizomelic Chondrodysplasia Punctata
Riya Sankhe, Meredith I Williams, Wedad Fallatah, et al.
Journal of Medical Genetics
|
August 25, 2011
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing
Jacek Majewski, Zibo Wang, Irma Lopez, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2026
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials
Mattias Rudebeck, Nancy Braverman, Richard Chang, et al.
Plos One
|
September 14, 2018
PPARα-mediated peroxisome induction compensates PPARγ-deficiency in bronchiolar club cells
Srikanth Karnati, Gani Oruqaj, Harshavardhan Janga, et al.
Autophagy
|
May 20, 2017
The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders
Kelsey B Law, Dana Bronte-Tinkew, Erminia Di Pietro, et al.
Journal of Medical Genetics
|
July 26, 2011
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
Ahmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, et al.
Neurogenetics
|
June 22, 2014
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy
Alireza Kashani, Isabelle Thiffault, Marie-Emmanuelle Dilenge, et al.
JIMD Reports
|
September 6, 2021
Clinical utility of methionine restriction in adenosine kinase deficiency
Najmah Almuhsen, Simon-Pierre Guay, Marie Lefrancois, et al.
Page
of 7