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Arthritis & Rheumatology (Hoboken, N.J.)|July 9, 2016
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus ErythematosusJie An, Tracy A Briggs, Audrey Dumax-Vorzet, et al.
Journal of Medical Genetics|August 31, 2016
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrumMiriam S Reuter, Angelika Riess, Ute Moog, et al.
JCI Insight|March 13, 2020
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutationEmmanuel Martin, Norbert Minet, Anne-Claire Boschat, et al.
European Journal of Medical Genetics|July 25, 2015
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patientsAna Beleza-Meireles, Rachel Hart, Jill Clayton-Smith, et al.
Cytokine|May 4, 2021
Differential levels of IFNα subtypes in autoimmunity and viral infectionVincent Bondet, Mathieu P Rodero, Céline Posseme, et al.
Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
Journal of Medical Genetics|April 21, 2021
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.
Medrxiv : the Preprint Server for Health Sciences|July 30, 2026
Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell functionYun-Han Huang, Kathya Arana, Suzanna Rachimi, et al.
The Journal of Experimental Medicine|April 20, 2017
Detection of interferon alpha protein reveals differential levels and cellular sources in diseaseMathieu P Rodero, Jérémie Decalf, Vincent Bondet, et al.
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