Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
about
Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescentsA novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous PolyposisConnections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.DNA damage response and hematological malignancy.Primary/Congenital Immunodeficiency: 2015 SH/EAHP Workshop Report-Part 5.Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.Pediatric High Grade Gliomas in the Context of Cancer Predisposition Syndromes.Role of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium
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Q33822062-8462DAB4-B726-4B74-921B-541EE3B5483FQ37089839-15851F38-CE72-41A2-BFF4-0876EB1481C0Q37153032-D5B33BD0-BF8E-4B4C-A4D5-91754E47E3A5Q38806007-853011F6-5483-4206-871E-3125152E172CQ38871499-EA679DEF-929D-47E6-A4F0-44414D29AEBBQ39218048-FEB7BA99-06A4-4C02-B89F-A1C6A82B64A9Q39232124-36CC2A97-A267-4E09-AF95-96B747851EABQ42580084-FBA7E3F7-A603-485D-B1E9-67B48DD6F2BEQ48615237-9C5E0AB5-BB48-4EBF-8F94-1E31F7D8F384Q55277238-D9C0F376-A12E-42D0-83D2-8AA2C76B91CBQ58791088-CE1437BD-361D-4605-A254-6B85977BBC1F
P2860
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
Constitutional mismatch repair ...... escription in a French cohort.
@en
type
label
Constitutional mismatch repair ...... escription in a French cohort.
@en
prefLabel
Constitutional mismatch repair ...... escription in a French cohort.
@en
P2093
P2860
P1476
Constitutional mismatch repair ...... description in a French cohort
@en
P2093
F Bourdeaut
G Bougeard
G Couillault
G Jedraszak
G Leverger
P2860
P304
P356
10.1136/JMEDGENET-2015-103299
P407
P577
2015-08-28T00:00:00Z