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Journal of Pediatric Hematology/Oncology|June 22, 2010
Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutationPaul Castillo-Caro, Santhosh Dhanraj, Paul Haut, et al.Pediatric Blood & Cancer|January 11, 2013
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndromeSanthosh Dhanraj, Arif Manji, Dalila Pinto, et al.JCI Insight|January 29, 2020
Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failureStephanie Heidemann, Brian Bursic, Sasan Zandi, et al.Journal of Medical Genetics|October 18, 2018
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and bloodAdel Shalata, Supanun Lauhasurayotin, Zvi Leibovitz, et al.Journal of Clinical Immunology|August 15, 2013
Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopeniaBoonchai Boonyawat, Santhosh Dhanraj, Fahad Al Abbas, et al.Journal of Medical Genetics|September 6, 2015
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, et al.NPJ Genomic Medicine|December 17, 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panelsSupanun Lauhasurayotin, Geoff D Cuvelier, Robert J Klaassen, et al.Journal of Medical Genetics|July 3, 2015
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromesIbrahim Ghemlas, Hongbing Li, Bozana Zlateska, et al.NPJ Genomic Medicine|July 11, 2017
The clinical impact of copy number variants in inherited bone marrow failure syndromesNicolas Waespe, Santhosh Dhanraj, Manju Wahala, et al.Pageof 1