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John J Digiovanna

Showing results (61-70 of 78) with videos related to

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Ophthalmology|October 1, 2011
Ocular manifestations of trichothiodystrophyBrian P Brooks, Amy H Thompson, Janine A Clayton, et al.
Carcinogenesis|August 6, 2005
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patientsSikandar G Khan, Kyu-Seon Oh, Tala Shahlavi, et al.
Journal of Medical Genetics|November 25, 2010
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repairPorcia T Bradford, Alisa M Goldstein, Deborah Tamura, et al.
JAMA Dermatology|February 16, 2022
Development and Initial Validation of a Novel System to Assess Ichthyosis SeverityQisi Sun, Sarah Asch, Cheryl Bayart, et al.
American Journal of Human Genetics|March 22, 2016
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyChristiane Kuschal, Elena Botta, Donata Orioli, et al.
The Journal of Investigative Dermatology|June 13, 2002
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patientsSteffen Emmert, Hanoch Slor, David B Busch, et al.
Ophthalmology|April 23, 2013
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageBrian P Brooks, Amy H Thompson, Rachel J Bishop, et al.
Acta Neuropathologica Communications|November 21, 2013
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)Jin-Ping Lai, Yen-Chun Liu, Meghna Alimchandani, et al.
The Journal of Investigative Dermatology|March 28, 2008
Xeroderma pigmentosum-variant patients from America, Europe, and AsiaHiroki Inui, Kyu-Seon Oh, Carine Nadem, et al.
Nature Genetics|January 31, 2006
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
Pageof 8

Showing results (61-70 of 78) with videos related to

Sort By:
Pageof 8
Ophthalmology|October 1, 2011
Ocular manifestations of trichothiodystrophyBrian P Brooks, Amy H Thompson, Janine A Clayton, et al.
Carcinogenesis|August 6, 2005
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patientsSikandar G Khan, Kyu-Seon Oh, Tala Shahlavi, et al.
Journal of Medical Genetics|November 25, 2010
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repairPorcia T Bradford, Alisa M Goldstein, Deborah Tamura, et al.
JAMA Dermatology|February 16, 2022
Development and Initial Validation of a Novel System to Assess Ichthyosis SeverityQisi Sun, Sarah Asch, Cheryl Bayart, et al.
American Journal of Human Genetics|March 22, 2016
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyChristiane Kuschal, Elena Botta, Donata Orioli, et al.
The Journal of Investigative Dermatology|June 13, 2002
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patientsSteffen Emmert, Hanoch Slor, David B Busch, et al.
Ophthalmology|April 23, 2013
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageBrian P Brooks, Amy H Thompson, Rachel J Bishop, et al.
Acta Neuropathologica Communications|November 21, 2013
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)Jin-Ping Lai, Yen-Chun Liu, Meghna Alimchandani, et al.
The Journal of Investigative Dermatology|March 28, 2008
Xeroderma pigmentosum-variant patients from America, Europe, and AsiaHiroki Inui, Kyu-Seon Oh, Carine Nadem, et al.
Nature Genetics|January 31, 2006
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
Pageof 8