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John J Digiovanna

Showing results (31-40 of 78) with videos related to

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Experimental Dermatology|May 26, 2022
Trichothiodystrophy hair shafts display distinct ultrastructural featuresAngeliki-Diotima Ioannidis, Sikandar G Khan, Deborah Tamura, et al.
Plos Genetics|December 2, 2024
Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patientsJeffrey P Sagun, Sikandar G Khan, Kyoko Imoto, et al.
Pediatrics|October 1, 2021
Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy OverlapAdesoji Abiona, Nuno Cordeiro, Heather Fawcett, et al.
Frontiers in Oncology|November 13, 2023
Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancersElvelyn R Fernandez, Deborah Tamura, Sikandar G Khan, et al.
Obstetrics and Gynecology|September 11, 2019
Reproductive Health in Xeroderma Pigmentosum: Features of Premature AgingMelissa Merideth, Deborah Tamura, Divya Angra, et al.
The Journal of Investigative Dermatology|September 17, 2002
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genesEli Sprecher, Peter Itin, Neil V Whittock, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosumXiaolong Zhou, Sikandar G Khan, Deborah Tamura, et al.
JAMA Dermatology|November 27, 2014
Cutaneous adverse effects associated with the tyrosine-kinase inhibitor cabozantinibRena C Zuo, Andrea B Apolo, John J DiGiovanna, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|August 10, 2013
Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degenerationLucas M Viana, Mohammad Seyyedi, Carmen C Brewer, et al.
Human Mutation|May 13, 2008
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophyJennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, et al.
Pageof 8

Showing results (31-40 of 78) with videos related to

Sort By:
Pageof 8
Experimental Dermatology|May 26, 2022
Trichothiodystrophy hair shafts display distinct ultrastructural featuresAngeliki-Diotima Ioannidis, Sikandar G Khan, Deborah Tamura, et al.
Plos Genetics|December 2, 2024
Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patientsJeffrey P Sagun, Sikandar G Khan, Kyoko Imoto, et al.
Pediatrics|October 1, 2021
Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy OverlapAdesoji Abiona, Nuno Cordeiro, Heather Fawcett, et al.
Frontiers in Oncology|November 13, 2023
Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancersElvelyn R Fernandez, Deborah Tamura, Sikandar G Khan, et al.
Obstetrics and Gynecology|September 11, 2019
Reproductive Health in Xeroderma Pigmentosum: Features of Premature AgingMelissa Merideth, Deborah Tamura, Divya Angra, et al.
The Journal of Investigative Dermatology|September 17, 2002
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genesEli Sprecher, Peter Itin, Neil V Whittock, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosumXiaolong Zhou, Sikandar G Khan, Deborah Tamura, et al.
JAMA Dermatology|November 27, 2014
Cutaneous adverse effects associated with the tyrosine-kinase inhibitor cabozantinibRena C Zuo, Andrea B Apolo, John J DiGiovanna, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|August 10, 2013
Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degenerationLucas M Viana, Mohammad Seyyedi, Carmen C Brewer, et al.
Human Mutation|May 13, 2008
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophyJennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, et al.
Pageof 8