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R A Spritz

Showing results (71-80 of 98) with videos related to

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Prenatal Diagnosis|April 1, 1995
DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)T C Falik-Borenstein, S A Holmes, Z Borochowitz, et al.
Human Molecular Genetics|May 1, 1997
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)R Morell, R A Spritz, L Ho, et al.
Nature Genetics|August 10, 2000
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasiaK Suzuki, D Hu, T Bustos, et al.
American Journal of Medical Genetics|December 31, 1997
Autosomal dominant hypohidrotic ectodermal dysplasia in a large familyA L Aswegan, K D Josephson, R Mowbray, et al.
International Journal of Cancer|June 11, 1997
Loss of expression of receptor tyrosine kinase family genes PTK7 and SEK in metastatic melanomaD J Easty, P J Mitchell, K Patel, et al.
Human Molecular Genetics|July 1, 1997
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS proteinM A Karim, D L Nagle, H H Kandil, et al.
Nature Genetics|September 18, 2001
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern VenezuelaM A Sözen, K Suzuki, M M Tolarova, et al.
The Journal of Investigative Dermatology|May 1, 1996
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase geneR E Schnur, B T Sellinger, S A Holmes, et al.
Molecules and Cells|April 30, 1997
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinismS K Park, K H Lee, K C Park, et al.
The Journal of Clinical Investigation|March 1, 1991
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinismR A King, D Townsend, W Oetting, et al.
Pageof 10

Showing results (71-80 of 98) with videos related to

Sort By:
Pageof 10
Prenatal Diagnosis|April 1, 1995
DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)T C Falik-Borenstein, S A Holmes, Z Borochowitz, et al.
Human Molecular Genetics|May 1, 1997
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)R Morell, R A Spritz, L Ho, et al.
Nature Genetics|August 10, 2000
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasiaK Suzuki, D Hu, T Bustos, et al.
American Journal of Medical Genetics|December 31, 1997
Autosomal dominant hypohidrotic ectodermal dysplasia in a large familyA L Aswegan, K D Josephson, R Mowbray, et al.
International Journal of Cancer|June 11, 1997
Loss of expression of receptor tyrosine kinase family genes PTK7 and SEK in metastatic melanomaD J Easty, P J Mitchell, K Patel, et al.
Human Molecular Genetics|July 1, 1997
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS proteinM A Karim, D L Nagle, H H Kandil, et al.
Nature Genetics|September 18, 2001
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern VenezuelaM A Sözen, K Suzuki, M M Tolarova, et al.
The Journal of Investigative Dermatology|May 1, 1996
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase geneR E Schnur, B T Sellinger, S A Holmes, et al.
Molecules and Cells|April 30, 1997
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinismS K Park, K H Lee, K C Park, et al.
The Journal of Clinical Investigation|March 1, 1991
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinismR A King, D Townsend, W Oetting, et al.
Pageof 10