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Nancy Braverman

Showing results (1-10 of 68) with videos related to

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American Journal of Medical Genetics. Part A|December 21, 2018
Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndromeEbba Alkhunaizi, Nancy Braverman
Translational Science of Rare Diseases|November 21, 2017
Peroxisome biogenesis disordersCatherine Argyriou, Maria Daniela D'Agostino, Nancy Braverman
Archives of Otolaryngology--Head & Neck Surgery|December 22, 2004
Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctataMatthew E Wolpoe, Nancy Braverman, Sandra Y Lin
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2020
Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)Kim L McBride, Susan A Berry, Nancy Braverman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2010
Diagnostic guidelines for newborns who screen positive in newborn screeningDavid Kronn, Shideh Mofidi, Nancy Braverman, et al.
Genetics in Medicine Open|June 16, 2025
Estimation of <i>PEX1</i>-mediated Zellweger spectrum disorder births and population prevalence by population genetics modelingKaren E Malone, Catherine Argyriou, Evelyn Zavacky, et al.
American Journal of Medical Genetics. Part A|November 5, 2011
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiologyGretchen Oswald, Cathleen Lawson, Gerald Raymond, et al.
Seminars in Arthritis and Rheumatism|December 27, 2008
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctataSteffan W Schulz, Michael Bober, Caitlyn Johnson, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 10, 2010
Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compoundsRui Zhang, Li Chen, Sarn Jiralerspong, et al.
JIMD Reports|February 23, 2013
Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patientsSébastien Lévesque, Marie Lambert, Aspasia Karalis, et al.
Pageof 7

Showing results (1-10 of 68) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|December 21, 2018
Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndromeEbba Alkhunaizi, Nancy Braverman
Translational Science of Rare Diseases|November 21, 2017
Peroxisome biogenesis disordersCatherine Argyriou, Maria Daniela D'Agostino, Nancy Braverman
Archives of Otolaryngology--Head & Neck Surgery|December 22, 2004
Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctataMatthew E Wolpoe, Nancy Braverman, Sandra Y Lin
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2020
Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)Kim L McBride, Susan A Berry, Nancy Braverman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2010
Diagnostic guidelines for newborns who screen positive in newborn screeningDavid Kronn, Shideh Mofidi, Nancy Braverman, et al.
Genetics in Medicine Open|June 16, 2025
Estimation of <i>PEX1</i>-mediated Zellweger spectrum disorder births and population prevalence by population genetics modelingKaren E Malone, Catherine Argyriou, Evelyn Zavacky, et al.
American Journal of Medical Genetics. Part A|November 5, 2011
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiologyGretchen Oswald, Cathleen Lawson, Gerald Raymond, et al.
Seminars in Arthritis and Rheumatism|December 27, 2008
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctataSteffan W Schulz, Michael Bober, Caitlyn Johnson, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 10, 2010
Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compoundsRui Zhang, Li Chen, Sarn Jiralerspong, et al.
JIMD Reports|February 23, 2013
Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patientsSébastien Lévesque, Marie Lambert, Aspasia Karalis, et al.
Pageof 7