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- Poikiloderma with Neutropenia and Mastocytosis: a Case Report and a Review of Dermatological Signs
- Trichothiodystrophy
- Genetic Correction of Stem Cells in the Treatment of Inherited Diseases and Focus on Xeroderma Pigmentosum
- Gene Therapy for Genetic Skin Disease
- Xeroderma Pigmentosum Syndrome: a New Model to Study the Role Of
- Congenital: Growths-Conditions-Vascular Lesions-Hair-Nails Epidermolysis-Ichthyosis-Mastocytosis-Neurofibromatosis-Tuberous Sclerosis-Xeroderma
- Deep Phenotyping of 89 Xeroderma Pigmentosum Patients Reveals Unexpected Heterogeneity Dependent on the Precise Molecular Defect
- Review Article
- Rothmund–Thomson Syndrome
- The Morbid Anatomy of the Human Genome: Chromosomal Location of Mutations Causing Disease
- Supplementary Table 1: Human Genes Captured
- DNA Repair Trichothiodystrophy
- ERCC2 Gene ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit
- Treating Basal and Squamous Cell Skin Cancer If You’Ve Been Diagnosed with Basal Or Squamous Cell Skin Cancer, Your Treatment Team Will Discuss Your Options with You
- Expanded Carrier Screening
- Xeroderma Pigmentosum – Facts and Perspectives JANIN LEHMANN*, CHRISTINA SEEBODE*, MARIE CHRISTINE MARTENS and STEFFEN EMMERT
- Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins
- The University of Chicago Genetic Services Laboratories
- Supplementary Online Content
- Hereditary Nonmelanoma Skin Cancer Vasiliki Nikolaou, MD,* Alexander J
- Rothmund-Thomson Syndrome: Two Case Chromosomal Radiosensitivity
- Hyper-Recornbination and Bloom's Syndrome: Microbes Again Provide Clues About Cancer Rodney Rothstein and Serge Gangloff
- Organ Site Specificity for Cancer in Chromosomal Instability Disorders1
- RNA-Based Therapies for Genodermatoses
- Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders
- Abnormal Immune Responses of Bloom's Syndrome Lymphocytes in Vitro
- Xeroderma Pigmentosum Group G with Severe Neurological Involvement and Features of Cockayne Syndrome in Infancy
- Excision Repair Defect in Rothmund Thomson Syndrome
- Skin Disorders Panel Versie V4 (337 Genen) Centrum Voor Medische Genetica Gent
- Preconception Genetic Carrier Screen
- Dramatic Response of Metastatic Cutaneous Angiosarcoma to An
- Bloom's Syndrome and the Ataxia-Telangiectasia- Mutated Protein, ATM
- Xeroderma Pigmentosum
- Xeroderma Pigmentosum: an Insight Into DNA Repair Processes
- The First Case of Systemic Mastocytosis in a Xeroderma Pigmentosum Patient: an Association Or a Coincidence?
- Universal Panel Disease List
- Epidemiological, Clinical and Therapeutic Profile Of
- Blueprint Genetics Ichthyosis Panel
- Retrovirus-Mediated Gene Transfer Corrects DNA Repair Defect of Xeroderma Pigmentosum Cells of Complementation Groups A, B and C
- Effect of Mutations in XPD(ERCC2) on Pregnancy and Prenatal Development in Mothers of Patients with Trichothiodystrophy Or Xeroderma Pigmentosum
- Ichthyosis Precision Panel Overview Indications Clinical Utility
- A Patient with Rothmund-Thomson Syndrome and All Features of RAPADILINO
- DNA Repair Diseases: What Do They Tell Us About Cancer and Aging?
- Xeroderma Pigmentosum: Overview of Pharmacology and Novel Therapeutic Strategies for Neurological Symptoms
- Disorders with Prominent Cutaneous Manifestations Fromthefirstintothesecondvolume,Andprovideeach and Selection of Conditions Has Been Comprehensive
- Two Unusual Tumours in a Patient of Xeroderma Pigmentosum: Angiosarcoma and Basosquamous Carcinoma
- Invitae Carrier Screening the Insight Your Patients Need to Prepare for Tomorrow
- Xeroderma Pigmentosum A-Deficient, Stem Cell Factor-Transgenic
- Xeroderma Pigmentosum and Trichothiodystrophy Are
- Cutaneous Manifestations of Systemic Disease
- DNA Breakage Syndromes
- Xeroderma Pigmentosum, ERCC5-Related
- Trichothiodystrophy, a Human DNA Repair Disorder with Heterogeneity in the Cellular Response to Ultraviolet Light1