Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). (Q38204965)

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scientific article published on 15 April 2014

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English	Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).	scientific article published on 15 April 2014

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scholarly article

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Europe PubMed Central

31 August 2017

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). (English)

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Europe PubMed Central

31 August 2017

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DNA mismatch repair

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based on heuristic

inferred from title

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24737826%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Anne-Marie Gerdes

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14 June 2020

author name string

Katharina Wimmer

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14 June 2020

Christian P Kratz

2

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14 June 2020

Olivier Caron

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14 June 2020

Chrystelle Colas

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14 June 2020

Natacha Entz-Werle

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14 June 2020

Yael Goldberg

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14 June 2020

Denisa Ilencikova

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14 June 2020

Martine Muleris

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14 June 2020

Alex Duval

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14 June 2020

Noémie Lavoine

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14 June 2020

Clara Ruiz-Ponte

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14 June 2020

Irene Slavc

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14 June 2020

Brigit Burkhardt

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14 June 2020

Laurence Brugieres

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14 June 2020

EU-Consortium Care for CMMRD (C4CMMRD)

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14 June 2020

language of work or name

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publication date

15 April 2014

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Europe PubMed Central

31 August 2017

Journal of Medical Genetics

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14 June 2020

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14 June 2020

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14 June 2020

355-365

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14 June 2020

Role of DNA mismatch repair defects in the pathogenesis of human cancer

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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

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Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation

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Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations

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