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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 16, 2024
. (Total: 63877 Documents since 2012)
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Records 1 - 13 (of 13 Records)
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Xeroderma pigmentosum: an updated review.
Leung Alexander Kc et al. Drugs in context 2022 11
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Xeroderma Pigmentosum: Gene Variants and Splice Variants.
Martens Marie Christine et al. Genes 2021 12(8)
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DNA Damage-Induced Neurodegeneration in Accelerated Ageing and Alzheimer's Disease.
Wang Heling et al. International journal of molecular sciences 2021 22(13)
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Genetic Counseling Clinic at AIIMS (New Delhi).
Maitra Dhritiman et al. Indian journal of surgical oncology 2021 12(Suppl 1) 30-33
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Hereditary Tumor Syndromes with Skin Involvement.
Hamid Ramiz N et al. Dermatologic clinics 2019 Oct 37(4) 607-613
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Xeroderma pigmentosum.
Zghal M et al. Annales de dermatologie et de venereologie 2018 Nov 145(11) 706-722
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Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh Jennifer et al. JAMA dermatology 2018 Dec
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Xeroderma pigmentosum clinical practice guidelines.
Moriwaki Shinichi et al. The Journal of dermatology 2017 Oct 44(10) 1087-1096
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Xeroderma pigmentosum at a tertiary care center in Saudi Arabia.
Alwatban Lenah et al. Annals of Saudi medicine 37(3) 240-244
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Correlation of DNA Repair Gene Polymorphisms With Clinical Outcome in Patients With Locally Advanced Non-Small-Cell Lung Cancer Receiving Induction Chemotherapy Followed by Surgery.
Santarpia Mariacarmela et al. Clinical lung cancer 2017 Mar 18(2) 178-188.e4
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Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Walsh Michael F et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e23-e31
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Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health.
Tamura D et al. The British journal of dermatology 2017 May 176(5) 1125-1126
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Clinical utility gene card for: Xeroderma pigmentosum.
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 16, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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