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Kenneth H. Kraemer

national institutes of health (nih) - usa

69H指数
289论文数
1.8W被引数
收录论文 95
发表时间
RNA lariat debranching enzyme (DBR1) variations in Sabinas brittle hair syndrome form of trichothiodystrophy (TTD): A TTD causing geneRNA套索脱枝酶(DBR1)在萨比纳脆发综合征形式的发硫营养不良(TTD)中的变异:一个导致TTD的基因
err2025-07-17
err0
PREAI
errSikandar G. Khan; Wenelia Baghoomian; Christiane Kuschal-Tauzon; Deborah Tamura; Maxwell P. Lee; John J. DiGiovanna; Rodrigo Cepeda-Valdes; Julio Salas-Alanis; Kenneth H. Kraemer
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Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients
err2024-12-02
err0
errOAAI
errSagun, Jeffrey P.; Khan, Sikandar G.; Imoto, Kyoko; Tamura, Deborah; Oh, Kyu-Seon; Digiovanna, John J.; Kraemer, Kenneth H.
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Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers
err2023-10-25
err2
errOAAI
errFernandez, Elvelyn R.; Tamura, Deborah; Khan, Sikandar G.; Momen, Sophie; Fassihi, Hiva; Sarkany, Robert; Digiovanna, John J.; Kraemer, Kenneth H.
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Trichothiodystrophy hair shafts display distinct ultrastructural features
err2022-06-13
err1
errOAAI
errIoannidis, Angeliki-Diotima; Khan, Sikandar G.; Tamura, Deborah; DiGiovanna, John J.; Rizza, Elizabeth; Kraemer, Kenneth H.; Rice, Robert H.
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Knowledge is power
err2022-03-30
err0
PREAI
errDiGiovanna, John J.; Kraemer, Kenneth H.
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Xeroderma Pigmentosum: A Model for Human Premature Aging
err2021-04-01
err28
errOAAI
errRizza, Elizabeth R. H.; DiGiovanna, John J.; Khan, Sikandar G.; Tamura, Deborah; Jeskey, Jack D.; Kraemer, Kenneth H.
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Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging
err2020-11-05
err9
errOAAI
errKouatcheu, S. D.; Marko, J.; Tamura, D.; Khan, S. G.; Lee, C. R.; DiGiovanna, J. J.; Kraemer, K. H.
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Melanoma to Vitiligo: The Melanocyte in Biology & Medicine-Joint Montagna Symposium on the Biology of Skin/PanAmerican Society for Pigment Cell Research Annual Meeting
err2020-02-01
err3
errOAAI
errLeachman, Sancy A.; Hornyak, Thomas J.; Barsh, Greg; Bastian, Boris C.; Brash, Douglas E.; Cleaver, James E.; Cooper, Cynthia D.; D'Orazio, John A.; Fujita, Mayumi; Holmen, Sheri L.; Indra, Arup K.; Kraemer, Kenneth H.; Le Poole, I. Caroline; Lo, Roger S.; Lund, Amanda W.; Manga, Prashiela; Pavan, William J.; Setaluri, Vijayasaradhi; Stemwedel, Clara E.; Kulesz-Martin, Molly F.
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Reproductive Health in Xeroderma Pigmentosum Features of Premature Aging
err2019-10-01
err7
errOAAI
errMerideth, Melissa; Tamura, Deborah; Angra, Divya; Khan, Sikandar G.; Ferrell, Joyln; Goldstein, Alisa M.; DiGiovanna, John J.; Kraemer, Kenneth H.
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Deep phenotyping using principal component analysis effectively arrays XPD (ERCC2) xeroderma pigmentosum and trichothiodystrophy patient phenotypes: The XP-TTD coefficient
err2019-09-01
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errOAAI
errPugh, J. M.; Nelson, G. W.; Levoska, M. A.; Hanona, P. F.; Tamura, D.; Heller, E. R.; Khan, S. G.; Scheibye-Knudsen, M.; DiGiovanna, J. J.; Kraemer, K. H.
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Predisposition to hematologic malignancies in patients with xeroderma pigmentosum
err2019-08-22
err19
errOAAI
errOetjen, Karolyn A.; Levoska, Melissa A.; Tamura, Deborah; Ito, Sawa; Douglas, Dorothea; Khan, Sikandar G.; Calvo, Katherine R.; Kraemer, Kenneth H.; DiGiovanna, John J.
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Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population
err2019-01-01
err14
errOAAI
errPugh, Jennifer; Khan, Sikandar G.; Tamura, Deborah; Goldstein, Alisa M.; Landi, Maria Teresa; DiGiovanna, John J.; Kraemer, Kenneth H.
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Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
err2018-06-01
err14
errOAAI
errShanbhag, Niraj M.; Geschwind, Michael D.; DiGiovanna, John J.; Groden, Catherine; Godfrey, Rena; Yousefzadeh, Matthew J.; Wade, Erin A.; Niedernhofer, Laura J.; Malicdan, May Christine V.; Kraemer, Kenneth H.; Gahl, William A.; Toro, Camilo
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Mixed phenotype acute leukemia in xeroderma pigmentosum
err2018-05-01
err0
errOAAI
errLevoska, M.; Tamura, D.; Ito, S.; Calvo, K.; Douglas, D. N.; Oetjen, K.; Khan, S. G.; Kraemer, K. H.; DiGiovanna, J. J.
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Hematologic abnormalities in trichothiodystrophy
err2018-05-01
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errOAAI
errRandall, G.; Oetjen, K.; Pugh, J.; Levoska, M.; Khan, S. G.; Tamura, D.; DiGiovanna, J. J.; Kraemer, K. H.
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Use of hierarchical clustering and principal component analysis for deep phenotyping of patients with mutations in XPD (ERCC2): trichothiodystrophy (TTD), xeroderma pigmentosum (XP) and XP/TTD
err2018-05-01
err0
errOAAI
errLevoska, M.; Pugh, J.; Nelson, G.; Hanona, P.; Tamura, D.; Heller, E.; Khan, S. G.; Scheibye-Knudsen, M.; DiGiovanna, J. J.; Kraemer, K. H.
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Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man
err2018-03-01
err3
errOAAI
errLevoska, Melissa A.; Cohen, Jeffrey I.; Manoli, Irini; Lee, Chyi-Chia Richard; Ching, Steven S. T.; Shand, Jessica; Tamura, Deborah; Kraemer, Kenneth H.; DiGiovanna, John J.
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