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John J Digiovanna

Showing results (41-50 of 78) with videos related to

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The Journal of Investigative Dermatology|July 19, 2025
RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing GeneSikandar G Khan, Wenelia Baghoomian, Christiane Kuschal-Tauzon, et al.
Journal of the American Academy of Dermatology|October 2, 2017
Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old manMelissa A Levoska, Jeffrey I Cohen, Irini Manoli, et al.
American Journal of Human Genetics|March 26, 2002
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndromeGabriele Richard, Fatima Rouan, Colin E Willoughby, et al.
Pigment Cell & Melanoma Research|February 4, 2014
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patientsTaro Masaki, Yun Wang, John J DiGiovanna, et al.
BMC Neurology|October 10, 2021
Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studiesTanya J Lehky, Paul Sackstein, Deborah Tamura, et al.
European Journal of Human Genetics : EJHG|May 24, 2012
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosumDeborah Tamura, Sikandar G Khan, Melissa Merideth, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 31, 2009
Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomasYun Wang, John J Digiovanna, Jere B Stern, et al.
Archives of Dermatology|November 18, 2009
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephewStéphanie Christen-Zaech, Kyoko Imoto, Sikandar G Khan, et al.
The Journal of Investigative Dermatology|February 10, 2012
Tretinoin and the prevention of keratinocyte carcinoma (Basal and squamous cell carcinoma of the skin): a veterans affairs randomized chemoprevention trialMartin A Weinstock, Stephen F Bingham, John J Digiovanna, et al.
The Journal of Investigative Dermatology|May 27, 2006
Structural and molecular hair abnormalities in trichothiodystrophyChristine Liang, Andrea Morris, Sebastian Schlücker, et al.
Pageof 8

Showing results (41-50 of 78) with videos related to

Sort By:
Pageof 8
The Journal of Investigative Dermatology|July 19, 2025
RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing GeneSikandar G Khan, Wenelia Baghoomian, Christiane Kuschal-Tauzon, et al.
Journal of the American Academy of Dermatology|October 2, 2017
Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old manMelissa A Levoska, Jeffrey I Cohen, Irini Manoli, et al.
American Journal of Human Genetics|March 26, 2002
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndromeGabriele Richard, Fatima Rouan, Colin E Willoughby, et al.
Pigment Cell & Melanoma Research|February 4, 2014
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patientsTaro Masaki, Yun Wang, John J DiGiovanna, et al.
BMC Neurology|October 10, 2021
Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studiesTanya J Lehky, Paul Sackstein, Deborah Tamura, et al.
European Journal of Human Genetics : EJHG|May 24, 2012
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosumDeborah Tamura, Sikandar G Khan, Melissa Merideth, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 31, 2009
Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomasYun Wang, John J Digiovanna, Jere B Stern, et al.
Archives of Dermatology|November 18, 2009
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephewStéphanie Christen-Zaech, Kyoko Imoto, Sikandar G Khan, et al.
The Journal of Investigative Dermatology|February 10, 2012
Tretinoin and the prevention of keratinocyte carcinoma (Basal and squamous cell carcinoma of the skin): a veterans affairs randomized chemoprevention trialMartin A Weinstock, Stephen F Bingham, John J Digiovanna, et al.
The Journal of Investigative Dermatology|May 27, 2006
Structural and molecular hair abnormalities in trichothiodystrophyChristine Liang, Andrea Morris, Sebastian Schlücker, et al.
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