Showing results (81-90 of 95) with videos related to

Sort By:
Pageof 10
Blood|December 17, 2013
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damageRuth Clifford, Tania Louis, Pauline Robbe, et al.
Molecular Syndromology|December 6, 2011
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsJ Wincent, D L Bruno, B W M van Bon, et al.
Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
Nature Genetics|January 29, 2013
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesisStephen R F Twigg, Elena Vorgia, Simon J McGowan, et al.
Plos Genetics|December 14, 2012
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor developmentStefano Lise, Yvonne Clarkson, Emma Perkins, et al.
Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes ProjectPauline Robbe, Niko Popitsch, Samantha J L Knight, et al.
Genetics in Medicine Open|June 16, 2025
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humansAkiko Soneda Hashimoto, Jianshi Yu, Christina Williams, et al.
Nature Genetics|November 5, 2022
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical featuresPauline Robbe, Kate E Ridout, Dimitrios V Vavoulis, et al.
Blood|June 13, 2018
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.
Pageof 10