R J Desnick|S R Thorpe|M B Fiddler - JoVE Visualize

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Cytogenetics and Cell Genetics|January 1, 1997

Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridizationB Levy, I F Gershin, R J Desnick, et al.

The American Journal of Pathology|May 1, 1981

Light- and electron-microscopic histochemistry of Fabry's diseaseT Faraggiana, J Churg, E Grishman, et al.

American Journal of Human Genetics|November 1, 1990

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry diseaseH Sakuraba, A Oshima, Y Fukuhara, et al.

Genomics|April 15, 1997

Structure and chromosomal assignment of the human cathepsin K geneB D Gelb, G P Shi, M Heller, et al.

European Journal of Human Genetics : EJHG|January 1, 1996

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countriesJ P Davies, C M Eng, J A Hill, et al.

Clinical Pharmacology and Therapeutics|September 9, 2011

Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity scoreM F Barginear, M Jaremko, I Peter, et al.

American Journal of Human Genetics|March 31, 2000

The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1J A Martignetti, K E Heath, J Harris, et al.

American Journal of Medical Genetics|May 26, 1999

Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutationM P Wasserstein, J A Martignetti, R Zeitlin, et al.

The Journal of Allergy and Clinical Immunology|July 11, 2000

Genetics of peanut allergy: a twin studyS H Sicherer, T J Furlong, H H Maes, et al.

Human Mutation|April 29, 1998

Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. OnlineC H Chen, P W Shyu, S J Wu, et al.

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Showing results (271-280 of 399) with videos related to

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Pageof 40

Cytogenetics and Cell Genetics|January 1, 1997

Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridizationB Levy, I F Gershin, R J Desnick, et al.

The American Journal of Pathology|May 1, 1981

Light- and electron-microscopic histochemistry of Fabry's diseaseT Faraggiana, J Churg, E Grishman, et al.

American Journal of Human Genetics|November 1, 1990

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry diseaseH Sakuraba, A Oshima, Y Fukuhara, et al.

Genomics|April 15, 1997

Structure and chromosomal assignment of the human cathepsin K geneB D Gelb, G P Shi, M Heller, et al.

European Journal of Human Genetics : EJHG|January 1, 1996

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countriesJ P Davies, C M Eng, J A Hill, et al.

Clinical Pharmacology and Therapeutics|September 9, 2011

Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity scoreM F Barginear, M Jaremko, I Peter, et al.

American Journal of Human Genetics|March 31, 2000

The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1J A Martignetti, K E Heath, J Harris, et al.

American Journal of Medical Genetics|May 26, 1999

Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutationM P Wasserstein, J A Martignetti, R Zeitlin, et al.

The Journal of Allergy and Clinical Immunology|July 11, 2000

Genetics of peanut allergy: a twin studyS H Sicherer, T J Furlong, H H Maes, et al.

Human Mutation|April 29, 1998

Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. OnlineC H Chen, P W Shyu, S J Wu, et al.

Pageof 40