Showing results (2291-2300 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|March 25, 1999
A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansionI Panagopoulos, C Lassen, U Kristoffersson, et al.
Human Mutation|March 25, 1999
Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. OnlineK Claes, E Machackova, M De Vos, et al.
Human Mutation|March 1, 2000
Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. OnlineD R Booth, J D Gillmore, M R Persey, et al.
Human Mutation|March 1, 2000
Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. OnlineI Gluck, M Zeigler, R Bargal, et al.
Human Mutation|March 1, 2000
A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. OnlineU Grau, H G Klein, C Detter, et al.
Human Mutation|March 1, 2000
Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. OnlineD J Klaus, C J Gallione, K Anthony, et al.
Human Mutation|March 1, 2000
A novel homozygous nonsense mutations E135* in the type II 3beta-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia. Mutations in brief no. 168. OnlineS Marui, I M Torrealba, A J Russell, et al.
Human Mutation|October 3, 2000
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemiaG N Hendy, L D'Souza-Li, B Yang, et al.
Human Mutation|October 3, 2000
Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrierP Kozlowski, K Sobczak, A Jasinska, et al.
Human Mutation|October 3, 2000
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)A De Siervi, D E Weiss Cádiz, V E Parera, et al.
Pageof 574