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

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Posters by ID

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
Average: 3.5 (2 votes)
30

In the clinic with Medical Genetic Summaries (MGS)

Adriana Malheiro, Laura Dean, Marilu Hoeppner, Wendy Rubinstein
NIH/NLM/NCBI
Poster Presenter: Adriana Malheiro
Average: 3 (1 vote)
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
Average: 1 (1 vote)

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
Average: 1 (1 vote)
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
Average: 3 (2 votes)

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
Average: 4 (2 votes)

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
Average: 2 (4 votes)
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
Average: 3.7 (3 votes)

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
Average: 2.3 (3 votes)

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