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Michele Spencer-Manzon

Showing results (1-10 of 15) with videos related to

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Seminars in Pediatric Surgery|August 31, 2020
Antenatally detected liver and biliary pathologyMatthew P Shaughnessy, Michele Spencer-Manzon, Robert A Cowles
Journal of Pediatric Intensive Care|May 11, 2019
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the <i>OXCT1</i> GeneDaniel J Zheng, Michael Hooper, Michele Spencer-Manzon, et al.
European Journal of Medical Genetics|October 10, 2018
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseasesLauren Jeffries, Jordan E Olivieri, Weizhen Ji, et al.
Archives of Dermatology|September 21, 2011
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiencyPuja K Puri, Deepti M Reddi, Michele Spencer-Manzon, et al.
American Journal of Medical Genetics. Part A|July 14, 2020
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variantsSonia Amabile, Lauren Jeffries, James M McGrath, et al.
Genes|February 25, 2023
Excluding Digenic Inheritance of <i>PGAP2</i> and <i>PGAP3</i> Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with <i>PGAP2</i> Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)Miles D Thompson, Xueying Li, Michele Spencer-Manzon, et al.
American Journal of Medical Genetics. Part A|August 20, 2020
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequenceEmily K Mis, Samir Al-Ali, Weizhen Ji, et al.
Journal of Hepatology|July 15, 2009
Liver transplantation for glycogen storage disease type IaSrinevas K Reddy, Stephanie L Austin, Michele Spencer-Manzon, et al.
Frontiers in Genetics|December 19, 2019
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric SettingsHongyan Chai, Autumn DiAdamo, Brittany Grommisch, et al.
Blood|February 12, 2005
Platelet activation in cystic fibrosisBrian P O'Sullivan, Matthew D Linden, Andrew L Frelinger, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Seminars in Pediatric Surgery|August 31, 2020
Antenatally detected liver and biliary pathologyMatthew P Shaughnessy, Michele Spencer-Manzon, Robert A Cowles
Journal of Pediatric Intensive Care|May 11, 2019
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the <i>OXCT1</i> GeneDaniel J Zheng, Michael Hooper, Michele Spencer-Manzon, et al.
European Journal of Medical Genetics|October 10, 2018
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseasesLauren Jeffries, Jordan E Olivieri, Weizhen Ji, et al.
Archives of Dermatology|September 21, 2011
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiencyPuja K Puri, Deepti M Reddi, Michele Spencer-Manzon, et al.
American Journal of Medical Genetics. Part A|July 14, 2020
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variantsSonia Amabile, Lauren Jeffries, James M McGrath, et al.
Genes|February 25, 2023
Excluding Digenic Inheritance of <i>PGAP2</i> and <i>PGAP3</i> Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with <i>PGAP2</i> Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)Miles D Thompson, Xueying Li, Michele Spencer-Manzon, et al.
American Journal of Medical Genetics. Part A|August 20, 2020
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequenceEmily K Mis, Samir Al-Ali, Weizhen Ji, et al.
Journal of Hepatology|July 15, 2009
Liver transplantation for glycogen storage disease type IaSrinevas K Reddy, Stephanie L Austin, Michele Spencer-Manzon, et al.
Frontiers in Genetics|December 19, 2019
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric SettingsHongyan Chai, Autumn DiAdamo, Brittany Grommisch, et al.
Blood|February 12, 2005
Platelet activation in cystic fibrosisBrian P O'Sullivan, Matthew D Linden, Andrew L Frelinger, et al.
Pageof 2