about
sameAs
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvementThe role of height-associated loci identified in genome wide association studies in the determination of pediatric statureHost-microbe interactions have shaped the genetic architecture of inflammatory bowel diseaseMeta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorderGenetic predictors of bronchial reactivity in adult Chinese femalesA genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbationsCommon variation in ISL1 confers genetic susceptibility for human congenital heart diseaseMeta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitisFunctional impact of global rare copy number variation in autism spectrum disordersCommon variants at five new loci associated with early-onset inflammatory bowel diseaseCommon genetic variants on 5p14.1 associate with autism spectrum disordersEvaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisA major susceptibility gene for asthma maps to chromosome 14q24A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery diseaseGenome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility lociLoss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variationCommon variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.Autism genome-wide copy number variation reveals ubiquitin and neuronal genesStrong synaptic transmission impact by copy number variations in schizophrenia.Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effectsGenetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosisCopy number variation at 1q21.1 associated with neuroblastomaGenomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumorsDiverse genome-wide association studies associate the IL12/IL23 pathway with Crohn DiseaseCommon variations in BARD1 influence susceptibility to high-risk neuroblastomaLoci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel diseaseIdentification of ALK as a major familial neuroblastoma predisposition geneChromosome 6p22 locus associated with clinically aggressive neuroblastomaAssociation of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's diseaseAssociation between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel DiseaseApplication of computational methods in genetic study of inflammatory bowel diseaseNeuroimaging of the Philadelphia neurodevelopmental cohort.Rarity of the Alzheimer disease-protective APP A673T variant in the United StatesGRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersAssociation of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's diseaseUsing VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyGenome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorderGenetic relationship between five psychiatric disorders estimated from genome-wide SNPsCopy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplicationsThe diabetes susceptibility gene Clec16a regulates mitophagy
P50
Q21183963-A276306D-C042-4A3C-9020-258B4A9C8CA7Q21261502-1C3F3D65-F298-4DF2-A441-1F4862A43176Q22251082-4A058665-5087-4578-8093-28A7C9A37BFDQ22252418-C0EDED6C-A18D-4F4E-88A6-5035A7F26540Q23909169-5E48ECC3-64B8-423D-942C-05C9E8488B1CQ24307696-9B5424AF-FAC8-4E27-92A3-4194F3301DC0Q24316517-883D5FCB-C7BA-4053-A2A3-FD951CB028CFQ24596087-B678F5AD-64B8-4156-9436-BE296F9AA442Q24596191-5D468A05-2003-4E2E-8A74-F7B164246CDBQ24600801-1DB71C01-0F0E-4EA6-93BA-88E9D03970BFQ24603204-8BEDEF77-9153-4E8D-92E3-48CCE35DA214Q24605104-D463FE9C-24F7-4785-9566-1BC18C7F84D4Q24612202-BF7AFA55-6C8C-4B54-804F-4FC1F9AABF25Q24615584-F07CB333-CAE7-45EF-8D34-7D0A85DCE33BQ24618592-231EA90F-2841-4889-85BE-741A2775DC4CQ24625036-755D4A59-02CA-417F-94F3-18022937AB9CQ24627043-C1540C27-FCB0-477F-9822-D44F406D1122Q24627043-F6A86E24-D8FB-4931-8CF7-9901267BC9AFQ24629598-ACA6DFE6-0E57-4394-8854-49734CA53504Q24630444-05D301E7-C737-4ED6-A8DF-6EFEAC50A4B2Q24630444-EDCC509A-02CC-4BBB-BDED-4A708B044A6EQ24631241-85B05D68-1CF8-42A0-B48F-3AB6B783BE25Q24635370-E0FF7C05-3BA7-4841-9D5C-7B28A85C1969Q24642330-A2894185-1C7C-4065-AC8F-B9A5533F7274Q24643365-BC31712C-D51B-4C22-9876-55838907A434Q24644398-7EF9D57F-5344-4552-ACC6-7314F379BD1AQ24645352-6D459858-66CC-42C7-9F6F-D1A6685B25BAQ24646902-5F91B0F6-C551-4A77-A033-63D2176DF330Q24655923-82293A5D-F0DB-461A-B7CE-2D5D4074AF97Q24656264-CA20012B-7CAC-4C79-9C49-D3881C893A9BQ24673589-EAFF06D8-2066-45B6-89EF-55103F31A0CAQ26767247-318BBEE0-9636-42CF-AFB5-D6D0052A7A36Q26774595-7F591A2E-65D6-4BBD-BF3C-50070DE66AD8Q26863642-5F4ACE05-89BB-4C60-8742-AD2C2DF171C5Q26863642-F3C4E752-FFDB-41A1-AFB2-3B645E5643D7Q27346292-E3EE5AEA-BB6B-4CFC-8E09-9823AA1897B7Q28119074-64229AF8-5794-48E6-AF8A-03FE9BF0A2FFQ28235756-73148CE5-2B15-4C6E-B633-178EC3DC21C8Q28241532-EFC5E010-DB9F-4685-BBE5-8474F201F019Q28254567-7F9EF8D1-387A-4DEC-A3D0-622707E40A1E
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
ricercatore
@it
հետազոտող
@hy
name
Hakon Hakonarson
@ast
Hakon Hakonarson
@en
Hakon Hakonarson
@es
Hakon Hakonarson
@nl
Hakon Hakonarson
@pt
Hakon Hakonarson
@sl
type
label
Hakon Hakonarson
@ast
Hakon Hakonarson
@en
Hakon Hakonarson
@es
Hakon Hakonarson
@nl
Hakon Hakonarson
@pt
Hakon Hakonarson
@sl
prefLabel
Hakon Hakonarson
@ast
Hakon Hakonarson
@en
Hakon Hakonarson
@es
Hakon Hakonarson
@nl
Hakon Hakonarson
@pt
Hakon Hakonarson
@sl
P214
P106
P1960
nLerrWsAAAAJ
P21
P214
P31
P569
2000-01-01T00:00:00Z
P735
P7859
viaf-210665629