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Molecular Genetics & Genomic Medicine|July 29, 2016
The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenitaShahinaz M Gadalla, Payal P Khincha, Hormuzd A Katki, et al.Pediatric Blood & Cancer|October 7, 2014
Genetic analysis and clinical picture of severe congenital neutropenia in IsraelAsaf Lebel, Joanne Yacobovich, Tanya Krasnov, et al.Blood|December 16, 2014
Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disordersArun Balakumaran, Prasun J Mishra, Edyta Pawelczyk, et al.Cold Spring Harbor Molecular Case Studies|June 24, 2021
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profilesSeth A Brodie, Payal P Khincha, Neelam Giri, et al.Journal of Medical Genetics|March 11, 2017
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisationLisa Mirabello, Payal P Khincha, Steven R Ellis, et al.Pediatric Blood & Cancer|May 6, 2009
Dyskeratosis congenita: the first NIH clinical research workshopSharon A Savage, Inderjeet Dokal, Mary Armanios, et al.European Journal of Human Genetics : EJHG|November 30, 2024
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorderMalin Kvarnung, Maria Pettersson, Pattra Chun-On, et al.Human Mutation|August 14, 2020
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemiaSaleh Bhar, Fujun Zhou, Lucas C Reineke, et al.HGG Advances|October 27, 2025
Detailed assessment of rare and common TERT variation in a family with a telomere biology disorderLogan P Zeigler, Oscar Florez-Vargas, Burak Altintas, et al.Cold Spring Harbor Molecular Case Studies|December 15, 2019
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypesSeth A Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, et al.Pageof 10