732 posters, 2 sessions, 11 topics, 3542 authors, 923 institutions

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13

RAI1 Overexpression Promotes Disruption of Central Circadian Components and Dyssomnia in Potocki-Lupski Syndrome

Michael Fountain, Sureni Mullegama, Joseph Alaimo, Brooke Burns, Amanda Hebert, Li Chen, Sarah Elsea

Baylor College of Medicine/Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital , UCLA, Departments of Pathology and Laboratory Medicine and UCLA Clinical Genomics Center, Baylor College of Medicine, Virginia Commonwealth University School of Medicine, School of Basic Medical Sciences, Fudan University

Poster Presenter: Michael Fountain

30

In the clinic with Medical Genetic Summaries (MGS)

Adriana Malheiro, Laura Dean, Marilu Hoeppner, Wendy Rubinstein

NIH/NLM/NCBI

Poster Presenter: Adriana Malheiro

53

Clinical Outcomes in Very Long Chain Fatty Acyl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, and 3-methylcrotonyl-CoA Carboxylase Deficiency Diagnosed by Newborn Screen

Amanda Barone, Joel Charrow

Ann and Robert H. Lurie Children’s Hospital of Chicago

Poster Presenter: Amanda Barone

The Poster has not been submitted by the Author.

54

Genotype-phenotype correlation in subjects with cobalamin C deficiency

Mohammed Almannai, Fernando Scaglia, William Craigen, V. Reid Sutton, Brett Graham, Brendan Lee, Lindsay Burrage, Ronit Marom

Department of Molecular and Human Genetics, Baylor College of Medicine, Baylor College of Medicine

Poster Presenter: Mohammed Almannai

55

Cobalamin C Disease in the Arizona Population

Kimberly Kripps, Kara Woolgar, Philip James, Kyrieckos Aleck

Phoenix Children's Hospital and Maricopa Medical Center Pediatric Residency Program, Division of Genetics and Metabolism, Phoenix Children’s Hospital, Phoenix Children's Hospital

Poster Presenter: Kimberly Kripps

The Poster has not been submitted by the Author.

56

Fibroblast growth factor 21 levels are elevated in patients with inborn errors of metabolism

Brian Kirmse, Kimberly Chapman, Kristina Cusmano-Ozog, Omar Ayyub, Juan Cabrera-Luque, Marshall Summar

Children's National Health System

Poster Presenter: Brian Kirmse

The Poster has not been submitted by the Author.

57

Placental metabolomics in HIV-infected and uninfected women reveal differences in multiple pathways of intermediary energy metabolism

Huda Al-Kouatly, Brian Kirmse, Rachel Scott, Gary Cunningham, Natella Rakhmanina

Poster Presenter: Huda Al-Kouatly

58

Novel mutation in AP1S1 causing MEDNIK and lack of improvement of hepatopathy with zinc chelation.

Bryce Comstock, Carlos Ferreira, Natalie Hauser

Children's National Health System

Poster Presenter: Bryce Comstock

The Poster has not been submitted by the Author.

59

Prominant Orotate Elevation in a Child with Atypical Clinical Presentation of Ornithine Transcarbamylase Deficiency

Keren Machol, Sarah Elsea, William Wilson

Department of Molecular and Human Genetics, Baylor Collage of Medicine, Baylor College of Medicine, Division of Pediatric Genetics, University of Virginia school of Medicine

Poster Presenter: Keren Machol

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Posters by ID

RAI1 Overexpression Promotes Disruption of Central Circadian Components and Dyssomnia in Potocki-Lupski Syndrome

In the clinic with Medical Genetic Summaries (MGS)

Clinical Outcomes in Very Long Chain Fatty Acyl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, and 3-methylcrotonyl-CoA Carboxylase Deficiency Diagnosed by Newborn Screen

Genotype-phenotype correlation in subjects with cobalamin C deficiency

Cobalamin C Disease in the Arizona Population

Fibroblast growth factor 21 levels are elevated in patients with inborn errors of metabolism

Placental metabolomics in HIV-infected and uninfected women reveal differences in multiple pathways of intermediary energy metabolism

Novel mutation in AP1S1 causing MEDNIK and lack of improvement of hepatopathy with zinc chelation.

Prominant Orotate Elevation in a Child with Atypical Clinical Presentation of Ornithine Transcarbamylase Deficiency

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