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American Journal of Medical Genetics. Part A
|
August 20, 2022
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature
Ezgi Gökpınar İli, Alper Gezdirici, Erminia Di Pietro, et al.
Ear and Hearing
|
September 17, 2021
A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum
John Lee, Christine Yergeau, Kosuke Kawai, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2010
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1
Graeme Nimmo, Sarah Monsonego, Maria Descartes, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2017
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, et al.
The Journal of Neuropsychiatry and Clinical Neurosciences
|
March 20, 2019
<i>SHANK3</i> Mutation and Mosaic Turner Syndrome in a Female Patient With Intellectual Disability and Psychiatric Features
Andrea Accogli, Richard Yang, Marie-Eve Blain-Juste, et al.
Journal of Lipid Research
|
March 9, 2025
Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder
Samy Omri, Catherine Argyriou, Rachel S Pryce, et al.
Molecular Genetics and Metabolism
|
November 16, 2004
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
Steven Steinberg, Li Chen, Liumei Wei, et al.
Journal of Magnetic Resonance Imaging : JMRI
|
February 8, 2006
Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels
L Patricia Franco, Jada Anderson, James Okoh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 9, 2013
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies
Claudia Matos-Miranda, Graeme Nimmo, Bradley Williams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 12, 2019
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Irene De Biase, Silvia Tortorelli, Lisa Kratz, et al.
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of 7
Search research articles
Search
Showing results (11-20 of 68) with videos related to
Sort By:
Page
of 7
American Journal of Medical Genetics. Part A
|
August 20, 2022
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature
Ezgi Gökpınar İli, Alper Gezdirici, Erminia Di Pietro, et al.
Ear and Hearing
|
September 17, 2021
A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum
John Lee, Christine Yergeau, Kosuke Kawai, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2010
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1
Graeme Nimmo, Sarah Monsonego, Maria Descartes, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2017
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, et al.
The Journal of Neuropsychiatry and Clinical Neurosciences
|
March 20, 2019
<i>SHANK3</i> Mutation and Mosaic Turner Syndrome in a Female Patient With Intellectual Disability and Psychiatric Features
Andrea Accogli, Richard Yang, Marie-Eve Blain-Juste, et al.
Journal of Lipid Research
|
March 9, 2025
Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder
Samy Omri, Catherine Argyriou, Rachel S Pryce, et al.
Molecular Genetics and Metabolism
|
November 16, 2004
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
Steven Steinberg, Li Chen, Liumei Wei, et al.
Journal of Magnetic Resonance Imaging : JMRI
|
February 8, 2006
Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels
L Patricia Franco, Jada Anderson, James Okoh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 9, 2013
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies
Claudia Matos-Miranda, Graeme Nimmo, Bradley Williams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 12, 2019
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Irene De Biase, Silvia Tortorelli, Lisa Kratz, et al.
Page
of 7