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Glycobiology
|
September 10, 2024
(Key1-001) congenital disorders of glycosylation: Glycobiology at the bedside
Andrew C Edmondson
Clinical Liver Disease
|
September 29, 2021
Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation
Christin Johnsen, Andrew C Edmondson
Journal of Pediatric Genetics
|
September 13, 2016
Overgrowth Syndromes
Andrew C Edmondson, Jennifer M Kalish
Circulation. Cardiovascular Genetics
|
December 25, 2009
Genome-wide approaches to finding novel genes for lipid traits: the start of a long road
Andrew C Edmondson, Daniel J Rader
American Journal of Medical Genetics. Part A
|
August 9, 2024
Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1)
Lauren Brady, Rashmi Yadav, Andrew C Edmondson, et al.
Pediatric Emergency Care
|
June 3, 2015
An 8-year-old girl with abdominal pain and mental status changes
Rebecca C Ahrens-Nicklas, Andrew C Edmondson, Can Ficicioglu
Clinical Chemistry
|
July 3, 2022
A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic
Xinying Hong, Hana Alharbi, Daniah Albokhari, et al.
JIMD Reports
|
April 13, 2016
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency
Andrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, et al.
JIMD Reports
|
April 15, 2017
Erratum
Andrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, et al.
Briefings in Bioinformatics
|
August 14, 2023
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis
Robert Wang, Ingo Helbig, Andrew C Edmondson, et al.
Page
of 8
Search research articles
Search
Showing results (1-10 of 73) with videos related to
Sort By:
Page
of 8
Glycobiology
|
September 10, 2024
(Key1-001) congenital disorders of glycosylation: Glycobiology at the bedside
Andrew C Edmondson
Clinical Liver Disease
|
September 29, 2021
Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation
Christin Johnsen, Andrew C Edmondson
Journal of Pediatric Genetics
|
September 13, 2016
Overgrowth Syndromes
Andrew C Edmondson, Jennifer M Kalish
Circulation. Cardiovascular Genetics
|
December 25, 2009
Genome-wide approaches to finding novel genes for lipid traits: the start of a long road
Andrew C Edmondson, Daniel J Rader
American Journal of Medical Genetics. Part A
|
August 9, 2024
Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1)
Lauren Brady, Rashmi Yadav, Andrew C Edmondson, et al.
Pediatric Emergency Care
|
June 3, 2015
An 8-year-old girl with abdominal pain and mental status changes
Rebecca C Ahrens-Nicklas, Andrew C Edmondson, Can Ficicioglu
Clinical Chemistry
|
July 3, 2022
A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic
Xinying Hong, Hana Alharbi, Daniah Albokhari, et al.
JIMD Reports
|
April 13, 2016
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency
Andrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, et al.
JIMD Reports
|
April 15, 2017
Erratum
Andrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, et al.
Briefings in Bioinformatics
|
August 14, 2023
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis
Robert Wang, Ingo Helbig, Andrew C Edmondson, et al.
Page
of 8