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Human mutation

Showing results (111-120 of 6,540) with videos related to

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Human Mutation|October 29, 2002
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutationsKathrin Rommel, Matthias Karck, Axel Haverich, et al.
Human Mutation|March 26, 2003
Phenylketonuria mutations in EuropeJohannes Zschocke
Human Mutation|March 26, 2003
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiencyM Lindner, R Steinfeld, P Burgard, et al.
Human Mutation|March 26, 2003
Identification of six novel MSH2 and MLH1 germline mutations in HNPCCStefan Krüger, Jens Plaschke, Birgit Jeske, et al.
Human Mutation|March 26, 2003
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutationsChi Hwa Kim, Hye Zin Hwang, Seng Mi Song, et al.
Human Mutation|March 26, 2003
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasiaSilvia Saviozzi, Alessandro Saluto, Maria Piane, et al.
Human Mutation|March 26, 2003
Bruton tyrosine kinase gene mutations in ArgentinaSilvia Danielian, Jazmin El-Hakeh, Guillermo Basílico, et al.
Human Mutation|March 26, 2003
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from SpainBerta Campos, Orland Díez, Fabrice Odefrey, et al.
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Mutation|December 19, 2001
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factorY Indo
Pageof 654

Showing results (111-120 of 6,540) with videos related to

Sort By:
Pageof 654
Human Mutation|October 29, 2002
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutationsKathrin Rommel, Matthias Karck, Axel Haverich, et al.
Human Mutation|March 26, 2003
Phenylketonuria mutations in EuropeJohannes Zschocke
Human Mutation|March 26, 2003
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiencyM Lindner, R Steinfeld, P Burgard, et al.
Human Mutation|March 26, 2003
Identification of six novel MSH2 and MLH1 germline mutations in HNPCCStefan Krüger, Jens Plaschke, Birgit Jeske, et al.
Human Mutation|March 26, 2003
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutationsChi Hwa Kim, Hye Zin Hwang, Seng Mi Song, et al.
Human Mutation|March 26, 2003
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasiaSilvia Saviozzi, Alessandro Saluto, Maria Piane, et al.
Human Mutation|March 26, 2003
Bruton tyrosine kinase gene mutations in ArgentinaSilvia Danielian, Jazmin El-Hakeh, Guillermo Basílico, et al.
Human Mutation|March 26, 2003
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from SpainBerta Campos, Orland Díez, Fabrice Odefrey, et al.
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Mutation|December 19, 2001
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factorY Indo
Pageof 654