(Q35057146)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

review article

1 reference

title

Ocular manifestations in the inherited DNA repair disorders (English)

1 reference

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17 December 2019

2

1 reference

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17 December 2019

José-Alain Sahel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

8

Alain Sarasin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

author name string

Hélène Dollfus

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Patrick Caussade

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Claude Speeg-Schatz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Edouard Grosshans

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Jacques Flament

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

publication date

1 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

published in

Survey of Ophthalmology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

volume

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

page(s)

107-122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy

17 December 2019

cites work

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7 January 2021

Cockayne's Syndrome Fibroblasts Have Increased Sensitivity to Ultraviolet Light But Normal Rates of Unscheduled DNA Synthesis

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7 January 2021

The role of oxidative stress in the pathogenesis of age-related macular degeneration.

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7 January 2021

Trichothiodystrophy, a transcription syndrome

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7 January 2021

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity

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7 January 2021

Sunlight and the onset of skin cancer

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7 January 2021

Corneal dystrophy in Cockayne's syndrome

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7 January 2021

Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients

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7 January 2021

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

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7 January 2021

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

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7 January 2021

Oxidative damage and protection of the RPE.

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7 January 2021

Oxidative stress induces caspase-independent retinal apoptosis in vitro

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7 January 2021

Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the diseases?

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7 January 2021

Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum

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7 January 2021

Defective Repair Replication of DNA in Xeroderma Pigmentosum

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7 January 2021

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

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7 January 2021

Dwarfism with Retinal Atrophy and Deafness

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7 January 2021

Dwarfism with retinal atrophy and deafness

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7 January 2021

Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.

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7 January 2021

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH

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7 January 2021

Ocular manifestations of Cockayne's syndrome

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7 January 2021

Xeroderma pigmentosum variants have decreased repair of ultraviolet-damaged DNA

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7 January 2021

Cancer from the outside, aging from the inside: mouse models to study the consequences of defective nucleotide excision repair

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7 January 2021

Nucleotide excision repair and human syndromes

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7 January 2021

Molecular mechanism of nucleotide excision repair.

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7 January 2021

Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II

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7 January 2021

The 14th Datta Lecture. TFIIH: from transcription to clinic

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7 January 2021

The Bloom's syndrome gene product is homologous to RecQ helicases

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7 January 2021

Defect in DNA Synthesis in Skin of Patients with Xeroderma Pigmentosum Demonstrated in vivo

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7 January 2021

Mechanism of open complex and dual incision formation by human nucleotide excision repair factors

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7 January 2021

Cataract in early onset and classic Cockayne syndrome

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7 January 2021

Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies

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7 January 2021

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7 January 2021

CHROMOSOMAL BREAKAGE IN A RARE AND PROBABLY GENETICALLY DETERMINED SYNDROME OF MAN

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7 January 2021

Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings

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7 January 2021

Oxidative stress: free radical production in neural degeneration.

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7 January 2021

Oculocutaneous manifestations in xeroderma pigmentosa

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7 January 2021

The Werner syndrome protein is a DNA helicase

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7 January 2021

DNA repair. The bases for Cockayne syndrome.

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7 January 2021

Transcription-coupled repair and human disease

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7 January 2021

Human nucleotide excision repair syndromes: molecular clues to unexpected intricacies

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7 January 2021

TFIIH: a key component in multiple DNA transactions

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7 January 2021

The premature ageing syndrome protein, WRN, is a 3'-->5' exonuclease

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7 January 2021

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes

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7 January 2021

Mismatch repair defects in cancer

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7 January 2021

Malignant melanoma of the iris in xeroderma pigmentosum.

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7 January 2021

Xeroderma pigmentosum

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7 January 2021

The Bloom's Syndrome Gene Product Is a 3′-5′ DNA Helicase

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7 January 2021

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

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7 January 2021

Sunlight and skin cancer: another link revealed

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7 January 2021

The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm

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7 January 2021

DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum

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7 January 2021

Corneal metastatic calcification in Werner's syndrome

1 reference

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7 January 2021

Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome

1 reference

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7 January 2021

Transcription-coupled repair of DNA damage: unanticipated players, unexpected complexities

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7 January 2021

Nucleotide excision repair and the link with transcription

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7 January 2021

Three complementation groups in Cockayne syndrome

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7 January 2021

Prenatal diagnosis of Cockayne's syndrome

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7 January 2021

Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation

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7 January 2021

Histopathology of the eye in Cockayne's syndrome

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7 January 2021

DNA excision repair pathways

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7 January 2021

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

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7 January 2021

Mechanisms of helicase-catalyzed DNA unwinding

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7 January 2021

Free radicals and antioxidants in the pathogenesis of eye diseases.

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7 January 2021

Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells

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7 January 2021

Ophthalmic management of Cockayne's syndrome

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7 January 2021

Cytogenetic aspects of Werner's syndrome lymphocyte cultures

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7 January 2021

DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders

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7 January 2021

Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D

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7 January 2021

Xeroderma pigmentosum--bridging a gap between clinic and laboratory.

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7 January 2021

Nuclear matrix associated DNA is preferentially repaired in normal human fibroblasts, exposed to a low dose of ultraviolet light but not in Cockayne's syndrome fibroblasts

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7 January 2021

Cockayne syndrome: Review of 140 cases

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7 January 2021

The Werner syndrome. A model for the study of human aging.

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7 January 2021

Cellular responses to DNA damage

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7 January 2021

The Cockayne syndrome--an inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Comparison with xeroderma pigmentosum

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7 January 2021

Deficient DNA mismatch repair: a common etiologic factor for colon cancer

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7 January 2021

Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa

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7 January 2021

Trichothiodystrophy: update

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7 January 2021

Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex

1 reference

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7 January 2021

A clinical study of a family with Cockayne's syndrome

1 reference

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7 January 2021

Variable presentation of Rothmund-Thomson syndrome

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7 January 2021

In utero diagnosis of trichothiodystrophy by endoscopically-guided fetal eyebrow biopsy

1 reference

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7 January 2021

Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case

1 reference

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7 January 2021

PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation

1 reference

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7 January 2021

Light damage revisited: converging evidence, diverging views?

1 reference

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7 January 2021

The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.

1 reference

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7 January 2021

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7 January 2021

A case of Bloom syndrome with conjunctival telangiectasia

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0039-6257%2802%2900400-9

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7 January 2021

Mechanisms of DNA excision repair

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7 January 2021

Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair

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7 January 2021

DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor

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7 January 2021

Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of slun tumors despite severe deficiency of DNA excision repair

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7 January 2021

Unwinding the molecular basis of the Werner syndrome

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7 January 2021

The Werner syndrome gene: the molecular basis of RecQ helicase-deficiency diseases

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7 January 2021

Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome

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7 January 2021

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

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7 January 2021

Human xeroderma pigmentosum group D gene encodes a DNA helicase

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7 January 2021

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

1 reference

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7 January 2021

Ocular findings in Cockayne syndrome

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7 January 2021

Mechanisms of Cell Death in the Inherited Retinal Degenerations

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7 January 2021

Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer.

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7 January 2021

The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.

1 reference

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7 January 2021

Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder

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7 January 2021

Interactions of DNA helicases with damaged DNA: possible biological consequences

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7 January 2021

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

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7 January 2021

A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome

1 reference

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7 January 2021

From a DNA helicase to brittle hair

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7 January 2021

DNA repair in eukaryotes

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7 January 2021

Seven genes for three diseases

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7 January 2021

Oxidation of serotonin by superoxide radical: implications to neurodegenerative brain disorders

1 reference

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7 January 2021

The DNA damage response: putting checkpoints in perspective

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2802%2900400-9

7 January 2021

Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2802%2900400-9

7 January 2021

Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2802%2900400-9

7 January 2021

10.1016/S0039-6257(02)00400-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12559331%20AND%20SRC:MED&resulttype=core&format=json

release_owyzz75l3vdgnh2jz53knmlaje

17 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/owyzz75l3vdgnh2jz53knmlaje

24 November 2022

mapped directly with Wikidata item

1 reference