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European Journal of Human Genetics : EJHG|August 9, 2018
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson DiseaseHeidi I Chen, Karthik A Jagadeesh, Johannes Birgmeier, et al.
American Journal of Medical Genetics. Part A|April 13, 2024
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variantEmilia Stellacci, Jennefer N Carter, Luca Pannone, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|April 11, 2018
Exploring the Medical and Psychosocial Concerns of Adolescents and Young Adults With Craniofacial Microsomia: A Qualitative StudyKayla V Hamilton, Kelly E Ormond, Tia Moscarello, et al.
Children (Basel, Switzerland)|February 26, 2025
Predictors of Friendship Skills for Adolescents with Asthma: An Analysis of Parent Report on the 2022 National Survey of Children's HealthBrandon Workman, Laura A Nabors, Danielle Pierre Hixon, et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology|February 27, 2003
Clinical and occupational outcomes in health care workers with natural rubber latex allergyDavid I Bernstein, Ravi Karnani, Ray E Biagini, et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma|July 1, 2006
Health effects of ultraviolet irradiation in asthmatic children's homesJonathan A Bernstein, R Carter Bobbitt, Linda Levin, et al.
American Journal of Medical Genetics. Part A|November 18, 2014
Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defectsMarie-Luise Brennan, Margaret P Adam, Laurie H Seaver, et al.
Clinical Reviews in Allergy & Immunology|May 8, 2020
Resolving Clinical Phenotypes into Endotypes in Allergy: Molecular and Omics ApproachesTesfaye B Mersha, Yashira Afanador, Elisabet Johansson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 30, 2022
2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomicsLauren J Massingham, Sabrina Nuñez, Jonathan A Bernstein, et al.
Nature Genetics|February 27, 2019
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicingKarthik A Jagadeesh, Joseph M Paggi, James S Ye, et al.
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