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M Stuhrmann

Showing results (51-60 of 60) with videos related to

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Clinical Genetics|May 9, 2008
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23M Stuhrmann, H C Hennies, I A Bukhari, et al.
Human Genetics|September 1, 1997
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferensT Dörk, B Dworniczak, C Aulehla-Scholz, et al.
Human Molecular Genetics|January 15, 1999
Characterization of ATM gene mutations in 66 ataxia telangiectasia familiesN Sandoval, M Platzer, A Rosenthal, et al.
Clinical Genetics|September 3, 2011
Analysis of phenotype and genotype information for the diagnosis of Marfan syndromeS Sheikhzadeh, C Kade, B Keyser, et al.
Clinical Genetics|May 24, 2008
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasiaK Brakensiek, H Frye-Boukhriss, M Mälzer, et al.
Nucleic Acids Research|February 21, 1998
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysisM Varret, J P Rabés, R Thiart, et al.
Human Genetics|May 8, 2000
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East EuropeT Dörk, M Macek, F Mekus, et al.
Human Genetics|June 1, 1996
Geographic distribution and origin of CFTR mutations in GermanyB Tümmler, T Storrs, V Dziadek, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 6, 2008
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceC Castellani, H Cuppens, M Macek, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|June 11, 2011
Recommendations for the classification of diseases as CFTR-related disordersC Bombieri, M Claustres, K De Boeck, et al.
Pageof 6

Showing results (51-60 of 60) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 60 results.
Clinical Genetics|May 9, 2008
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23M Stuhrmann, H C Hennies, I A Bukhari, et al.
Human Genetics|September 1, 1997
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferensT Dörk, B Dworniczak, C Aulehla-Scholz, et al.
Human Molecular Genetics|January 15, 1999
Characterization of ATM gene mutations in 66 ataxia telangiectasia familiesN Sandoval, M Platzer, A Rosenthal, et al.
Clinical Genetics|September 3, 2011
Analysis of phenotype and genotype information for the diagnosis of Marfan syndromeS Sheikhzadeh, C Kade, B Keyser, et al.
Clinical Genetics|May 24, 2008
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasiaK Brakensiek, H Frye-Boukhriss, M Mälzer, et al.
Nucleic Acids Research|February 21, 1998
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysisM Varret, J P Rabés, R Thiart, et al.
Human Genetics|May 8, 2000
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East EuropeT Dörk, M Macek, F Mekus, et al.
Human Genetics|June 1, 1996
Geographic distribution and origin of CFTR mutations in GermanyB Tümmler, T Storrs, V Dziadek, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 6, 2008
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceC Castellani, H Cuppens, M Macek, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|June 11, 2011
Recommendations for the classification of diseases as CFTR-related disordersC Bombieri, M Claustres, K De Boeck, et al.
Pageof 6