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N T Bech-Hansen

Showing results (41-50 of 51) with videos related to

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Human Genetics|April 1, 1990
A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosomeN T Bech-Hansen, L L Field, A M Schramm, et al.
Thescientificworldjournal|August 28, 2018
Recent Progress in the Identification of the X-Linked Infantile Spinal Muscular Atrophy (<i>Xl-SMA</i>) Gene: Implications for Neuronal ApoptosisL L Baumbach, D Dressman, H Basterrechea, et al.
Lancet (London, England)|June 20, 1981
Transmission of in-vitro radioresistance in a cancer-prone familyN T Bech-Hansen, W A Blattner, B M Sell, et al.
Channels (Austin, Tex.)|November 29, 2017
Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A)D M Waldner, N C Giraldo Sierra, S Bonfield, et al.
Annals of the New York Academy of Sciences|January 1, 1991
Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative datasetJ L Haines, J Amos, J Attwood, et al.
Nature Genetics|July 14, 1998
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindnessN T Bech-Hansen, M J Naylor, T A Maybaum, et al.
American Journal of Human Genetics|June 13, 1998
Evidence for genetic heterogeneity in X-linked congenital stationary night blindnessK M Boycott, W G Pearce, M A Musarella, et al.
Human Genetics|April 3, 2001
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variantsK M Boycott, T A Maybaum, M J Naylor, et al.
Advances in Experimental Medicine and Biology|March 19, 2010
Congenital stationary night blindness in mice - a tale of two Cacna1f mutantsN Lodha, S Bonfield, N C Orton, et al.
Nature Genetics|November 4, 2000
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindnessN T Bech-Hansen, M J Naylor, T A Maybaum, et al.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
Human Genetics|April 1, 1990
A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosomeN T Bech-Hansen, L L Field, A M Schramm, et al.
Thescientificworldjournal|August 28, 2018
Recent Progress in the Identification of the X-Linked Infantile Spinal Muscular Atrophy (<i>Xl-SMA</i>) Gene: Implications for Neuronal ApoptosisL L Baumbach, D Dressman, H Basterrechea, et al.
Lancet (London, England)|June 20, 1981
Transmission of in-vitro radioresistance in a cancer-prone familyN T Bech-Hansen, W A Blattner, B M Sell, et al.
Channels (Austin, Tex.)|November 29, 2017
Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A)D M Waldner, N C Giraldo Sierra, S Bonfield, et al.
Annals of the New York Academy of Sciences|January 1, 1991
Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative datasetJ L Haines, J Amos, J Attwood, et al.
Nature Genetics|July 14, 1998
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindnessN T Bech-Hansen, M J Naylor, T A Maybaum, et al.
American Journal of Human Genetics|June 13, 1998
Evidence for genetic heterogeneity in X-linked congenital stationary night blindnessK M Boycott, W G Pearce, M A Musarella, et al.
Human Genetics|April 3, 2001
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variantsK M Boycott, T A Maybaum, M J Naylor, et al.
Advances in Experimental Medicine and Biology|March 19, 2010
Congenital stationary night blindness in mice - a tale of two Cacna1f mutantsN Lodha, S Bonfield, N C Orton, et al.
Nature Genetics|November 4, 2000
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindnessN T Bech-Hansen, M J Naylor, T A Maybaum, et al.
Pageof 6