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M H Breuning

Showing results (151-160 of 163) with videos related to

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Genomics|March 1, 1997
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3H M Mitchison, P B Munroe, A M O'Rawe, et al.
Journal of Medical Genetics|March 4, 2000
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutationsF Petrij, H G Dauwerse, R I Blough, et al.
Oncogene|February 2, 1999
Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clusteredB A van der Reijden, H G Dauwerse, R H Giles, et al.
Journal of Medical Genetics|May 23, 2001
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigreeA Wagner, Y Hendriks, E J Meijers-Heijboer, et al.
Clinical Genetics|July 13, 2010
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysisD L Smit, A R Mensenkamp, S Badeloe, et al.
American Journal of Human Genetics|February 1, 1993
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3M H Breuning, H G Dauwerse, G Fugazza, et al.
American Journal of Human Genetics|February 11, 1999
Molecular analysis of SALL1 mutations in Townes-Brocks syndromeJ Kohlhase, P E Taschner, P Burfeind, et al.
Human Genetics|September 12, 2000
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13M Takahashi, E Rapley, P J Biggs, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|September 3, 2017
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defectsI H M van der Linde, Y L Hiemstra, R Bökenkamp, et al.
Hormone Research in Paediatrics|June 9, 2012
Genetic analysis of short children with apparent growth hormone insensitivityJ M Wit, H A van Duyvenvoorde, S A Scheltinga, et al.
Pageof 17

Showing results (151-160 of 163) with videos related to

Sort By:
Pageof 17
Genomics|March 1, 1997
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3H M Mitchison, P B Munroe, A M O'Rawe, et al.
Journal of Medical Genetics|March 4, 2000
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutationsF Petrij, H G Dauwerse, R I Blough, et al.
Oncogene|February 2, 1999
Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clusteredB A van der Reijden, H G Dauwerse, R H Giles, et al.
Journal of Medical Genetics|May 23, 2001
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigreeA Wagner, Y Hendriks, E J Meijers-Heijboer, et al.
Clinical Genetics|July 13, 2010
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysisD L Smit, A R Mensenkamp, S Badeloe, et al.
American Journal of Human Genetics|February 1, 1993
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3M H Breuning, H G Dauwerse, G Fugazza, et al.
American Journal of Human Genetics|February 11, 1999
Molecular analysis of SALL1 mutations in Townes-Brocks syndromeJ Kohlhase, P E Taschner, P Burfeind, et al.
Human Genetics|September 12, 2000
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13M Takahashi, E Rapley, P J Biggs, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|September 3, 2017
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defectsI H M van der Linde, Y L Hiemstra, R Bökenkamp, et al.
Hormone Research in Paediatrics|June 9, 2012
Genetic analysis of short children with apparent growth hormone insensitivityJ M Wit, H A van Duyvenvoorde, S A Scheltinga, et al.
Pageof 17