M d'Urso - JoVE Visualize

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Gene|August 5, 2000

Human dbl proto-oncogene in 85 kb of xq26, and determination of the transcription initiation siteG Palmieri, V de Franciscis, A Casamassimi, et al.

Human Molecular Genetics|November 16, 2001

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genesS Aradhya, T Bardaro, P Galgóczy, et al.

Journal of Medical Genetics|December 24, 1998

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysisS W Knight, T J Vulliamy, N S Heiss, et al.

Gene|March 18, 1997

Expressed STSs and transcription of human Xq28T Esposito, A Ciccodicola, L Flagiello, et al.

Gene|November 24, 1999

Human and mouse SYBL1 gene structure and expressionM R Matarazzo, M Cuccurese, M Strazzullo, et al.

Human Molecular Genetics|October 9, 2001

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutationsS Aradhya, H Woffendin, T Jakins, et al.

Human Mutation|February 12, 2000

Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. OnlineL Flagiello, V Cirigliano, M Strazzullo, et al.

European Journal of Human Genetics : EJHG|December 22, 1999

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutationsD De Brasi, T Esposito, M Rossi, et al.

Human Mutation|January 29, 2000

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. OnlineM G Miano, D Valverde, T Solans, et al.

Developmental Genetics|December 8, 1998

Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarrayD H Geschwind, J Gregg, K Boone, et al.

Pageof 10

Showing results (71-80 of 94) with videos related to

Sort By:

Pageof 10

Gene|August 5, 2000

Human dbl proto-oncogene in 85 kb of xq26, and determination of the transcription initiation siteG Palmieri, V de Franciscis, A Casamassimi, et al.

Human Molecular Genetics|November 16, 2001

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genesS Aradhya, T Bardaro, P Galgóczy, et al.

Journal of Medical Genetics|December 24, 1998

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysisS W Knight, T J Vulliamy, N S Heiss, et al.

Gene|March 18, 1997

Expressed STSs and transcription of human Xq28T Esposito, A Ciccodicola, L Flagiello, et al.

Gene|November 24, 1999

Human and mouse SYBL1 gene structure and expressionM R Matarazzo, M Cuccurese, M Strazzullo, et al.

Human Molecular Genetics|October 9, 2001

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutationsS Aradhya, H Woffendin, T Jakins, et al.

Human Mutation|February 12, 2000

Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. OnlineL Flagiello, V Cirigliano, M Strazzullo, et al.

European Journal of Human Genetics : EJHG|December 22, 1999

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutationsD De Brasi, T Esposito, M Rossi, et al.

Human Mutation|January 29, 2000

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. OnlineM G Miano, D Valverde, T Solans, et al.

Developmental Genetics|December 8, 1998

Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarrayD H Geschwind, J Gregg, K Boone, et al.

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