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BMC Neurology|December 2, 2004
Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disordersClare N Lynex, Ian M Carr, Jack P Leek, et al.Cancer Research|June 19, 2004
RASSF1A interacts with microtubule-associated proteins and modulates microtubule dynamicsAshraf Dallol, Angelo Agathanggelou, Sarah L Fenton, et al.The Journal of Clinical Endocrinology and Metabolism|September 16, 1999
Differences in allelic distribution of two polymorphisms in the VHL-associated gene CUL2 in pheochromocytoma patients without somatic CUL2 mutationsE M Duerr, O Gimm, D S Neuberg, et al.European Journal of Human Genetics : EJHG|April 15, 2021
Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2James Whitworth, Ruth T Casey, Philip S Smith, et al.Thorax|June 19, 2021
Combining clinical, radiological and genetic approaches to pneumothorax managementHannah L Grimes, Simon Holden, Judith Babar, et al.Journal of the Neurological Sciences|December 1, 1990
Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysisE R Maher, E Bentley, J R Yates, et al.Journal of Medical Genetics|February 1, 1993
Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor geneF M Richards, E R Maher, F Latif, et al.British Journal of Cancer|January 22, 2004
SLIT2 promoter methylation analysis in neuroblastoma, Wilms' tumour and renal cell carcinomaD Astuti, N F Da Silva, A Dallol, et al.Cancer Research|September 23, 2003
Identification of novel gene expression targets for the Ras association domain family 1 (RASSF1A) tumor suppressor gene in non-small cell lung cancer and neuroblastomaAngelo Agathanggelou, Ivan Bièche, Jalal Ahmed-Choudhury, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|April 3, 2014
A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidismHakan Cangul, Nadia A Schoenmakers, Halil Saglam, et al.Pageof 63