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S J Bale

Showing results (61-70 of 99) with videos related to

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Clinical Genetics|May 15, 2009
Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasiaY Shimomura, M Wajid, J Weiser, et al.
American Journal of Human Genetics|March 1, 1997
Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19qR Wartenfeld, E Golomb, G Katz, et al.
Human Genetics|May 8, 2000
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3G Richard, N Brown, L E Smith, et al.
American Journal of Human Genetics|February 1, 1994
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosisC C Chipev, J M Yang, J J DiGiovanna, et al.
Cell|September 4, 1992
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosisC C Chipev, B P Korge, N Markova, et al.
American Journal of Medical Genetics|April 15, 1994
Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC)A M Goldstein, B Pastakia, J J DiGiovanna, et al.
The Journal of Investigative Dermatology|February 11, 1998
A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral alleleT N Darling, B B Koh, S J Bale, et al.
The Journal of Investigative Dermatology|August 1, 1994
Fine mapping of the locus for nevoid basal cell carcinoma syndrome on chromosome 9qJ G Compton, A M Goldstein, M Turner, et al.
Arthritis and Rheumatism|March 20, 1998
Familial autoimmunity in pedigrees of idiopathic inflammatory myopathy patients suggests common genetic risk factors for many autoimmune diseasesL R Ginn, J P Lin, P H Plotz, et al.
Experimental Dermatology|February 13, 2001
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlationF Ringpfeil, A Raus, J J DiGiovanna, et al.
Pageof 10

Showing results (61-70 of 99) with videos related to

Sort By:
Pageof 10
Clinical Genetics|May 15, 2009
Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasiaY Shimomura, M Wajid, J Weiser, et al.
American Journal of Human Genetics|March 1, 1997
Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19qR Wartenfeld, E Golomb, G Katz, et al.
Human Genetics|May 8, 2000
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3G Richard, N Brown, L E Smith, et al.
American Journal of Human Genetics|February 1, 1994
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosisC C Chipev, J M Yang, J J DiGiovanna, et al.
Cell|September 4, 1992
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosisC C Chipev, B P Korge, N Markova, et al.
American Journal of Medical Genetics|April 15, 1994
Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC)A M Goldstein, B Pastakia, J J DiGiovanna, et al.
The Journal of Investigative Dermatology|February 11, 1998
A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral alleleT N Darling, B B Koh, S J Bale, et al.
The Journal of Investigative Dermatology|August 1, 1994
Fine mapping of the locus for nevoid basal cell carcinoma syndrome on chromosome 9qJ G Compton, A M Goldstein, M Turner, et al.
Arthritis and Rheumatism|March 20, 1998
Familial autoimmunity in pedigrees of idiopathic inflammatory myopathy patients suggests common genetic risk factors for many autoimmune diseasesL R Ginn, J P Lin, P H Plotz, et al.
Experimental Dermatology|February 13, 2001
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlationF Ringpfeil, A Raus, J J DiGiovanna, et al.
Pageof 10