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Deborah Tamura

Showing results (21-30 of 36) with videos related to

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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.
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|May 27, 2006
Structural and molecular hair abnormalities in trichothiodystrophyChristine Liang, Andrea Morris, Sebastian Schlücker, et al.
American Journal of Medical Genetics. Part A|September 14, 2022
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosisJohn J DiGiovanna, Grant Randall, Alexandra Edelman, et al.
Prenatal Diagnosis|July 30, 2011
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnanciesDeborah Tamura, Melissa Merideth, John J DiGiovanna, et al.
DNA Repair|October 29, 2008
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptomsSikandar G Khan, Kyu-Seon Oh, Steffen Emmert, et al.
Human Mutation|May 11, 2013
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyXiaohui Tan, Sarah L Anzick, Sikandar G Khan, et al.
Brain : a Journal of Neurology|February 1, 2013
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degenerationMariam B Totonchy, Deborah Tamura, Matthew S Pantell, et al.
Ophthalmology|October 1, 2011
Ocular manifestations of trichothiodystrophyBrian P Brooks, Amy H Thompson, Janine A Clayton, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
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.
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|May 27, 2006
Structural and molecular hair abnormalities in trichothiodystrophyChristine Liang, Andrea Morris, Sebastian Schlücker, et al.
American Journal of Medical Genetics. Part A|September 14, 2022
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosisJohn J DiGiovanna, Grant Randall, Alexandra Edelman, et al.
Prenatal Diagnosis|July 30, 2011
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnanciesDeborah Tamura, Melissa Merideth, John J DiGiovanna, et al.
DNA Repair|October 29, 2008
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptomsSikandar G Khan, Kyu-Seon Oh, Steffen Emmert, et al.
Human Mutation|May 11, 2013
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyXiaohui Tan, Sarah L Anzick, Sikandar G Khan, et al.
Brain : a Journal of Neurology|February 1, 2013
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degenerationMariam B Totonchy, Deborah Tamura, Matthew S Pantell, et al.
Ophthalmology|October 1, 2011
Ocular manifestations of trichothiodystrophyBrian P Brooks, Amy H Thompson, Janine A Clayton, et al.
Pageof 4