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European Journal of Human Genetics : EJHG|March 15, 2013
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defectsCorry M R Weemaes, Maarten J D van Tol, Jun Wang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactylyRhonda E Schnur, Sairah Yousaf, James Liu, et al.Journal of Clinical Immunology|March 14, 2026
Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening ProgramLea Graafen, Carsten Speckmann, Shahrzad Bakhtiar, et al.International Journal of Cardiology|November 29, 2018
Effects of the coronary artery disease associated LPA and 9p21 loci on risk of aortic valve stenosisTeresa Trenkwalder, Christopher P Nelson, Muntaser D Musameh, et al.Nature Genetics|December 8, 2015
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiencyHaifa H Jabara, Steven E Boyden, Janet Chou, et al.Journal of Clinical Immunology|February 27, 2023
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)Carsten Speckmann, Uta Nennstiel, Manfred Hönig, et al.Human Molecular Genetics|May 7, 2021
Genome-wide association study of cardiac troponin I in the general populationMarta R Moksnes, Helge Røsjø, Anne Richmond, et al.Journal of Bacteriology|October 7, 2004
Complete genome sequence of the genetically tractable hydrogenotrophic methanogen Methanococcus maripaludisE L Hendrickson, R Kaul, Y Zhou, et al.Archives of Physical Medicine and Rehabilitation|March 28, 2025
Common Data Elements for Rehabilitation Research in Neurologic Disorders (NeuroRehab CDEs)Noelle E Carlozzi, M Carolina Mendoza-Puccini, Sue Marden, et al.The Journal of Allergy and Clinical Immunology|April 13, 2017
Thymus transplantation for complete DiGeorge syndrome: European experienceE Graham Davies, Melissa Cheung, Kimberly Gilmour, et al.Pageof 148