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J BUNYAN

Showing results (31-40 of 62) with videos related to

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Human Genetics|November 14, 2009
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasiaFiona Connell, Kamini Kalidas, Pia Ostergaard, et al.
Genome Medicine|September 9, 2024
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approachCarolina Jaramillo Oquendo, Htoo A Wai, Wil I Rich, et al.
Journal of Reproduction & Infertility|December 1, 2022
Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary InfertilityDavid J Bunyan, Mili Saran, James I Hobbs, et al.
Molecular Biotechnology|April 17, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin geneDavid J Bunyan, Alison C Skinner, Emma J Ashton, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short statureDavid J Bunyan, Maria Baffico, Lucia Capone, et al.
American Journal of Medical Genetics. Part A|August 21, 2007
Zellweger syndrome resulting from maternal isodisomy of chromosome 1Claire L S Turner, David J Bunyan, N Simon Thomas, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficultiesMary Glancy, Angela Barnicoat, Rajan Vijeratnam, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathyC L S Turner, H Emery, A L Collins, et al.
Cytogenetic and Genome Research|April 22, 2020
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 RegionBeth Kirk, Mira Kharbanda, Mark S Bateman, et al.
Human Mutation|September 11, 2008
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and colobomaAlexander Wyatt, Preeti Bakrania, David J Bunyan, et al.
Pageof 7

Showing results (31-40 of 62) with videos related to

Sort By:
Pageof 7
Human Genetics|November 14, 2009
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasiaFiona Connell, Kamini Kalidas, Pia Ostergaard, et al.
Genome Medicine|September 9, 2024
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approachCarolina Jaramillo Oquendo, Htoo A Wai, Wil I Rich, et al.
Journal of Reproduction & Infertility|December 1, 2022
Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary InfertilityDavid J Bunyan, Mili Saran, James I Hobbs, et al.
Molecular Biotechnology|April 17, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin geneDavid J Bunyan, Alison C Skinner, Emma J Ashton, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short statureDavid J Bunyan, Maria Baffico, Lucia Capone, et al.
American Journal of Medical Genetics. Part A|August 21, 2007
Zellweger syndrome resulting from maternal isodisomy of chromosome 1Claire L S Turner, David J Bunyan, N Simon Thomas, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficultiesMary Glancy, Angela Barnicoat, Rajan Vijeratnam, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathyC L S Turner, H Emery, A L Collins, et al.
Cytogenetic and Genome Research|April 22, 2020
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 RegionBeth Kirk, Mira Kharbanda, Mark S Bateman, et al.
Human Mutation|September 11, 2008
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and colobomaAlexander Wyatt, Preeti Bakrania, David J Bunyan, et al.
Pageof 7