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European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.The Journal of Pediatrics|March 25, 2014
Clinical features and follow-up in patients with 22q11.2 deletion syndromeCaterina Cancrini, Pamela Puliafito, Maria Cristina Digilio, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|June 9, 2016
Reduced-Intensity Transplantation for Lymphomas Using Haploidentical Related Donors Versus HLA-Matched Sibling Donors: A Center for International Blood and Marrow Transplant Research AnalysisNilanjan Ghosh, Reem Karmali, Vanderson Rocha, et al.Journal of the American Heart Association|January 31, 2024
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren SyndromeDelong Liu, Charles J Billington, Neelam Raja, et al.Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.Clinical Genetics|May 14, 2021
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defectsValentina Guida, Francesca Piceci Sparascio, Laura Bernardini, et al.Vaccine|December 31, 2021
A non-inferiority trial comparing two killed, whole cell, oral cholera vaccines (Cholvax vs. Shanchol) in Dhaka, BangladeshFahima Chowdhury, Afroza Akter, Taufiqur Rahman Bhuiyan, et al.British Journal of Haematology|March 19, 2016
Allogeneic transplantation provides durable remission in a subset of DLBCL patients relapsing after autologous transplantationTimothy S Fenske, Kwang W Ahn, Tara M Graff, et al.Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.Nature Genetics|December 8, 2009
A restricted spectrum of NRAS mutations causes Noonan syndromeIon C Cirstea, Kerstin Kutsche, Radovan Dvorsky, et al.Pageof 56