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Blood Advances|April 9, 2025
Critical Bleeding in Adults and Children with Immune Thrombocytopenia: A Multicenter Cohort StudyEmily Sirotich, Saifur R Chowdhury, Dimpy Modi, et al.
American Journal of Medical Genetics. Part A|November 1, 2018
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of PhiladelphiaIan M Campbell, Sarah E Sheppard, T Blaine Crowley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2023
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndromeSólveig Óskarsdóttir, Erik Boot, Terrence Blaine Crowley, et al.
Science Translational Medicine|March 4, 2016
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologiesErnest Turro, Daniel Greene, Anouck Wijgaerts, et al.
Blood|February 26, 2016
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossSimon Stritt, Paquita Nurden, Ernest Turro, et al.
The Journal of Allergy and Clinical Immunology|September 1, 2018
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic diseaseBatsukh Dorjbal, Jeffrey R Stinson, Chi A Ma, et al.
Blood|April 17, 2016
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersIlenia Simeoni, Jonathan C Stephens, Fengyuan Hu, et al.
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