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American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, p. 128
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on... 
Transcription factors | Genetic variation | Child development deviations | Causes of | Genetic aspects | Health aspects | Developmental disabilities
Journal Article
Journal of Burn Care & Research, ISSN 1559-047X, 11/2019
Abstract While disparities in health care outcomes and services for vulnerable populations have been documented, the extent to which vulnerable burn... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, p. 339
  Congenital disorders of glycosylation (CDGs) are disorders of abnormal protein glycosylation that affect multiple organ systems. Because most CDGs have been... 
Genotype & phenotype | Congenital diseases | Genetics | Glycosylation | Mutation
Journal Article
American Journal of Occupational Therapy, ISSN 0272-9490, 07/2015, Volume 69, Issue Suppl. 1, p. 6911510146
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 5, pp. 1400 - 1409.e5
Background Identifying genetic syndromes that lead to significant atopic disease can open new pathways for investigation and intervention in allergy. Objective... 
Allergy and Immunology | immune deficiency | autoimmunity | phosphoglucomutase 3 | glycosylation | allergy | hyper-IgE | neurocognitive impairment | Atopy | STAT3 MUTATIONS | DOCK8 | NUCLEOTIDE SUGARS | HEALTHY | IMMUNOLOGY | O-GLCNACYLATION | CONGENITAL DISORDERS | Common Variable Immunodeficiency - immunology | CD8-Positive T-Lymphocytes - pathology | Hypersensitivity - enzymology | Humans | Genetic Diseases, Inborn - genetics | Child, Preschool | Hypersensitivity - immunology | Male | Th2 Cells - immunology | Genetic Diseases, Inborn - pathology | Common Variable Immunodeficiency - enzymology | Autoimmune Diseases - genetics | Young Adult | Immunoglobulin E - immunology | Immunoglobulin E - genetics | Female | Hypersensitivity - genetics | B-Lymphocytes - pathology | Cognition Disorders - immunology | Autoimmune Diseases - pathology | Child | Th2 Cells - pathology | Phosphoglucomutase - metabolism | Th17 Cells - pathology | Cognition Disorders - enzymology | B-Lymphocytes - enzymology | Th17 Cells - enzymology | Autoimmune Diseases - enzymology | Autoimmune Diseases - immunology | Cognition Disorders - pathology | Common Variable Immunodeficiency - pathology | Genetic Diseases, Inborn - immunology | Common Variable Immunodeficiency - genetics | Cognition Disorders - genetics | CD8-Positive T-Lymphocytes - enzymology | B-Lymphocytes - immunology | Hypersensitivity - pathology | Pedigree | Genetic Diseases, Inborn - enzymology | Th17 Cells - immunology | Family | Phosphoglucomutase - immunology | Mutation | CD8-Positive T-Lymphocytes - immunology | Th2 Cells - enzymology | Phosphoglucomutase - genetics | Autoimmunity | Nervous system diseases | Genomics | Immunodeficiency | Genetic research | Disease susceptibility | Genetic aspects | Food allergies | Enzymes | Nuclear magnetic resonance--NMR | Disease | Infections | Dermatitis | Patients | Allergies | Asthma | Defects | Proteins | Lasers | Spectrum analysis | Viral infections
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 503 - 509
Journal Article
Mitochondrion, ISSN 1567-7249, 11/2013, Volume 13, Issue 6, pp. 935 - 935
Journal Article
Open Forum Infectious Diseases, ISSN 2328-8957, 10/2019, Volume 6, Issue Supplement_2, pp. S948 - S948
Abstract Background Donor-derived toxoplasmosis (DDT) is a severe and potentially life-threatening infection after solid-organ transplantation (SOT). Serologic... 
Journal Article
Open Forum Infectious Diseases, ISSN 2328-8957, 10/2019, Volume 6, Issue Supplement_2, pp. S5 - S6
Abstract Background In the United States, all deceased donors (DD) are evaluated for behavioral risk factors for human immunodeficiency virus (HIV), hepatitis... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 12, pp. 1 - 18
The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease.... 
Consensus criteria | Treatment | Care guidelines | Delphi method | Mitochondrial disease | care guidelines | treatment | consensus criteria | mitochondrial disease | GENETICS & HEREDITY | Disease Management | Mitochondrial Diseases - therapy | Standard of Care | Humans | Mitochondrial Diseases - diagnosis
Journal Article
Brain, ISSN 0006-8950, 09/2016, Volume 139, Issue 9, pp. e52 - e52
Journal Article
Translational Research, ISSN 1931-5244, 04/2019, Volume 206, pp. 5 - 17
The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) studies rare genetic disorders not only to achieve diagnoses, but to understand... 
Phosphates | Medical research | Polysaccharides | Genetic disorders | Ligases | Medicine, Experimental | Diagnosis | Mass spectrometry
Journal Article
by Chao, Hsiao-Tuan and Chao, Katherine R and Davids, Mariska and Burke, Elizabeth and Pappas, John G and Rosenfeld, Jill A and McCarty, Alexandra J and Davis, Taylor and Wolfe, Lynne and Toro, Camilo and Tifft, Cynthia and Xia, Fan and Stong, Nicholas and Johnson, Travis K and Warr, Coral G and Adams, David R and Adams, Christopher J and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burrage, Lindsay C and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Dan C and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Hane and Lee, Paul R and Lee, Brendan H and Levy, Denise J and Levy, Shawn E and Lewis, Richard A and Liebendorder, Adam P and ... and Undiag Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 128 - 137
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2016, Volume 18, Issue 6, pp. 608 - 617
Journal Article