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J Tolmie

Showing results (11-20 of 30) with videos related to

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Journal of Medical Genetics|September 1, 1987
Congenital cutis laxa with retardation of growth and developmentM A Patton, J Tolmie, P Ruthnum, et al.
Journal of Medical Genetics|February 1, 1987
Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysisA Cooke, J Tolmie, W Darlington, et al.
Blood|October 26, 2000
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturationS Bekri, G Kispal, H Lange, et al.
The Journal of Biological Chemistry|August 14, 1999
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasiaS McDowall, A Argentaro, S Ranganathan, et al.
Eye (London, England)|December 6, 2005
Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globeM E MacRae, D V Patel, A J Richards, et al.
Cytogenetic and Genome Research|January 30, 2010
17q21.31 microdeletion syndrome: further expanding the clinical phenotypeF H Sharkey, N Morrison, R Murray, et al.
Nucleic Acids Research|July 11, 1986
Variable transfer of Y-specific sequences in XX malesN A Affara, M A Ferguson-Smith, J Tolmie, et al.
Cytogenetic and Genome Research|December 28, 2007
The molecular basis of the folate-sensitive fragile site FRA11A at 11q13K Debacker, B Winnepenninckx, C Longman, et al.
Clinical Genetics|December 16, 2011
A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidusJ H Christensen, H Kvistgaard, J Knudsen, et al.
Human Molecular Genetics|June 1, 1994
Molecular genetic analysis of the 3p- syndromeM E Phipps, F Latif, A Prowse, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
Journal of Medical Genetics|September 1, 1987
Congenital cutis laxa with retardation of growth and developmentM A Patton, J Tolmie, P Ruthnum, et al.
Journal of Medical Genetics|February 1, 1987
Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysisA Cooke, J Tolmie, W Darlington, et al.
Blood|October 26, 2000
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturationS Bekri, G Kispal, H Lange, et al.
The Journal of Biological Chemistry|August 14, 1999
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasiaS McDowall, A Argentaro, S Ranganathan, et al.
Eye (London, England)|December 6, 2005
Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globeM E MacRae, D V Patel, A J Richards, et al.
Cytogenetic and Genome Research|January 30, 2010
17q21.31 microdeletion syndrome: further expanding the clinical phenotypeF H Sharkey, N Morrison, R Murray, et al.
Nucleic Acids Research|July 11, 1986
Variable transfer of Y-specific sequences in XX malesN A Affara, M A Ferguson-Smith, J Tolmie, et al.
Cytogenetic and Genome Research|December 28, 2007
The molecular basis of the folate-sensitive fragile site FRA11A at 11q13K Debacker, B Winnepenninckx, C Longman, et al.
Clinical Genetics|December 16, 2011
A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidusJ H Christensen, H Kvistgaard, J Knudsen, et al.
Human Molecular Genetics|June 1, 1994
Molecular genetic analysis of the 3p- syndromeM E Phipps, F Latif, A Prowse, et al.
Pageof 3