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European Journal of Human Genetics : EJHG|December 4, 2008
A 15q13.3 microdeletion segregating with autismAlistair T Pagnamenta, Kirsty Wing, Elham Sadighi Akha, et al.Plos One|June 23, 2011
Genomic imbalances are confined to non-proliferating cells in paediatric patients with acute myeloid leukaemia and a normal or incomplete karyotypeErica Ballabio, Regina Regan, Elisa Garimberti, et al.International Journal of Cancer|June 10, 2009
Mutations of NFKBIA, encoding IkappaB alpha, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non-EBV-associated casesAnnette Lake, Lesley A Shield, Pablo Cordano, et al.Scientific Reports|March 20, 2021
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphomaHannah E Roberts, Maria Lopopolo, Alistair T Pagnamenta, et al.American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.European Journal of Human Genetics : EJHG|January 31, 2013
Molecular and clinical delineation of the 17q22 microdeletion phenotypeTobias Laurell, Johanna Lundin, Britt-Marie Anderlid, et al.Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.Leukemia|January 20, 2012
Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemiaS J L Knight, C Yau, R Clifford, et al.British Journal of Haematology|May 30, 2018
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLLJenny Klintman, Katerina Barmpouti, Samantha J L Knight, et al.American Journal of Medical Genetics. Part A|October 16, 2010
Phenotype and natural history in Marshall-Smith syndromeAdam C Shaw, Inge D C van Balkom, Mislen Bauer, et al.Pageof 10