about
Base transitions dominate the mutational spectrum of a transgenic reporter gene in MSH2 deficient miceMutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationWeaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In VitroA case of splenomegaly in CBL syndrome.Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsThe CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.Genetic variants of Tgfb1 act as context-dependent modifiers of mouse skin tumor susceptibility.Tissues of MSH2-deficient mice demonstrate hypermutability on exposure to a DNA methylating agent.Exome Sequencing and the Management of Neurometabolic Disorders.PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.Combined immunodeficiency associated with homozygous MALT1 mutations.Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis.IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae.The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma".Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantationJAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndromeGenetic modifiers interact with maternal determinants in vascular development of Tgfb1(-/-) mice
P50
Q28509599-B92728BA-9AB8-4E1D-95F1-111D611B16E8Q29144895-FC55BC9B-97B3-4291-A7D5-2827BC8C388CQ29147503-A186DAF5-58A2-4D28-B4BC-8551C6A6FB16Q33441037-1043DD5C-3F12-45CA-80F8-E881410366B6Q33919970-B4378DF4-95B9-4062-B682-29F98E101CB8Q34206229-AF093E91-CC0F-4F26-8C38-8583A285C6F2Q34505071-85C7FB64-D93A-4ABB-8CE3-F09D3A85ACB2Q34650188-18966A9E-EE72-4C02-B7E2-CB4683587256Q35795316-A55CFEB8-AF99-4DAA-BD1B-64D65A8957C2Q37171865-E59C1B5B-725A-4EF5-86AF-FBCBA793CE65Q37248504-8A39FBDA-B79D-4309-8C10-7C4B408E28A3Q45734660-657B3898-0B62-41F9-87FB-DD87BCF95AABQ46191709-2E724F72-E3C2-42C2-B19E-B1DDB0E1C276Q50433824-B52198EB-636B-4EA5-A1B1-727A7461091FQ51222177-8BA172D4-48E9-4932-9EED-070B4436706EQ53342808-A12CDCAD-705C-4B87-9E41-418CE2510533Q54346721-C74FF5D7-9B32-46EA-BBA5-F39DBE332243Q59093969-53DE37A2-12D0-4F98-AD6E-2CAB97A1DED8Q60700537-01AB2577-321C-424A-9BE9-F05DFC5F3E93Q73543282-E2B3D364-5820-4850-B249-20B6A750255A
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Margaret McKinnon
@ast
Margaret McKinnon
@en
Margaret McKinnon
@es
Margaret McKinnon
@nl
Margaret McKinnon
@sl
مارغريت مكينون
@ar
type
label
Margaret McKinnon
@ast
Margaret McKinnon
@en
Margaret McKinnon
@es
Margaret McKinnon
@nl
Margaret McKinnon
@sl
مارغريت مكينون
@ar
prefLabel
Margaret McKinnon
@ast
Margaret McKinnon
@en
Margaret McKinnon
@es
Margaret McKinnon
@nl
Margaret McKinnon
@sl
مارغريت مكينون
@ar
P106
P21
P31
P496
0000-0002-3161-414X