VIAF

Virtual International Authority File

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Leader 00000nz a2200037n 45 0
001 WKP|Q56320115 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241120235923.0
008 241120nneanz||abbn n and d
035 ‎‡a (WKP)Q56320115‏
024 ‎‡a 0000-0001-9848-0468‏ ‎‡2 orcid‏
035 ‎‡a (OCoLC)Q56320115‏
100 0 ‎‡a Kristina Lagerstedt Robinson‏ ‎‡9 sl‏
400 0 ‎‡a Kristina Lagerstedt Robinson‏ ‎‡c researcher‏ ‎‡9 en‏
400 0 ‎‡a Kristina Lagerstedt Robinson‏ ‎‡c wetenschapper‏ ‎‡9 nl‏
400 0 ‎‡a Kristina Lagerstedt Robinson‏ ‎‡c investigador/a‏ ‎‡9 es‏
400 0 ‎‡a Kristina Lagerstedt Robinson‏ ‎‡c investigador/a‏ ‎‡9 ast‏
670 ‎‡a Author's A case with bladder exstrophy and unbalanced X chromosome rearrangement‏
670 ‎‡a Author's A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1‏
670 ‎‡a Author's A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance‏
670 ‎‡a Author's A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1‏
670 ‎‡a Author's A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.‏
670 ‎‡a Author's Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis‏
670 ‎‡a Author's Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene‏
670 ‎‡a Author's Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database‏
670 ‎‡a Author's Chimerism resulting from parthenogenetic activation and dispermic fertilization‏
670 ‎‡a Author's Concurrent microdeletion and duplication of 22q11.2.‏
670 ‎‡a Author's Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.‏
670 ‎‡a Author's Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status‏
670 ‎‡a Author's DNA repair genes are selectively mutated in diffuse large B cell lymphomas‏
670 ‎‡a Author's Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.‏
670 ‎‡a Author's Doublede novomutations ofELANE‏
670 ‎‡a Author's Doublede novomutations ofELANE(ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy‏
670 ‎‡a Author's Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis‏
670 ‎‡a Author's FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias‏
670 ‎‡a Author's Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes‏
670 ‎‡a Author's Genetic anticipation in Swedish Lynch syndrome families.‏
670 ‎‡a Author's GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment‏
670 ‎‡a Author's Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.‏
670 ‎‡a Author's Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia‏
670 ‎‡a Author's Leiden Open Variation Database of the MUTYH gene‏
670 ‎‡a Author's Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer‏
670 ‎‡a Author's Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?‏
670 ‎‡a Author's Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis‏
670 ‎‡a Author's Mutational study of the MAMLD1-gene in hypospadias‏
670 ‎‡a Author's New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update‏
670 ‎‡a Author's No association between a promoter NOS1 polymorphism‏
670 ‎‡a Author's No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis‏
670 ‎‡a Author's Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability‏
670 ‎‡a Author's Partial tetrasomy 14 associated with multiple malformations.‏
670 ‎‡a Author's PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network‏
670 ‎‡a Author's Polymorphisms of estrogen receptor beta gene are associated with hypospadias.‏
670 ‎‡a Author's SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes‏
670 ‎‡a Author's Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients‏
670 ‎‡a Author's The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer‏
670 ‎‡a Author's The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect‏
670 ‎‡a Author's The BRCA1 exon 13 duplication in the Swedish population‏
670 ‎‡a Author's The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations‏
670 ‎‡a Author's The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias‏
670 ‎‡a Author's Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome‏
670 ‎‡a Author's Two Distinct Deletions in theIDSGene and the GeneW: A Novel Type of Mutation Associated with the Hunter Syndrome‏
909 ‎‡a (orcid) 0000000198480468‏ ‎‡9 1‏
919 ‎‡a novelmutationsincludingdeletionsoftheentireofd1genein30familieswithtype1orofaciodigitalsyndromeastudyoftheextensiveclinicalvariability‏ ‎‡A Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability‏ ‎‡9 1‏
919 ‎‡a noassociationbetweenapromoternos1polymorphismrs41279104andinfantilehypertrophicpyloricstenosis‏ ‎‡A No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis‏ ‎‡9 1‏
919 ‎‡a noassociationbetweenapromoternos1polymorphism‏ ‎‡A No association between a promoter NOS1 polymorphism‏ ‎‡9 1‏
919 ‎‡a newzmpste24face1mutationsinpatientsaffectedwithrestrictivedermopathyorrelatedprogeroidsyndromesandmutationupdate‏ ‎‡A New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update‏ ‎‡9 1‏
919 ‎‡a mutationalstudyofthemamld1geneinhypospadias‏ ‎‡A Mutational study of the MAMLD1-gene in hypospadias‏ ‎‡9 1‏
919 ‎‡a multigenerationinheritancethroughfertile20carriersofannr0b1dax1locusduplicationinakindredoffemaleswithisolatedxygonadaldysgenesis‏ ‎‡A Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis‏ ‎‡9 1‏
919 ‎‡a microsatelliteinstabilityanalysisandorimmunostainingforthediagnosisofhereditarynonpolyposiscolorectalcancer‏ ‎‡A Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?‏ ‎‡9 1‏
919 ‎‡a lossofmismatchrepairproteinimmunostainingincolorectaladenomasfrompatientswithhereditarynonpolyposiscolorectalcancer‏ ‎‡A Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer‏ ‎‡9 1‏
919 ‎‡a leidenopenvariationdatabaseofthemutyhgene‏ ‎‡A Leiden Open Variation Database of the MUTYH gene‏ ‎‡9 1‏
919 ‎‡a incidenceofseverecongenitalneutropeniainswedenandriskofevolutiontomyelodysplasticsyndromeleukaemia‏ ‎‡A Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia‏ ‎‡9 1‏
919 ‎‡a haplotypeanalysissuggestthatthemlh11002059ctmutationisaswedishfoundermutation‏ ‎‡A Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.‏ ‎‡9 1‏
919 ‎‡a gstm1geneexpressioncorrelatestoleiomyomavolumeregressioninresponsetomifepristonetreatment‏ ‎‡A GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment‏ ‎‡9 1‏
919 ‎‡a geneticanticipationinswedishlynchsyndromefamilies‏ ‎‡A Genetic anticipation in Swedish Lynch syndrome families.‏ ‎‡9 1‏
919 ‎‡a geneticanalysessupportingcolorectalgastricandprostatecancersyndromes‏ ‎‡A Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes‏ ‎‡9 1‏
919 ‎‡a fgfr2fgf8fgf10andbmp7ascandidategenesforhypospadias‏ ‎‡A FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias‏ ‎‡9 1‏
919 ‎‡a dystrophiahelsinglandicaanewtypeofhereditarycornealrecurrenterosionswithlatesubepithelialfibrosis‏ ‎‡A Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis‏ ‎‡9 1‏
919 ‎‡a doubledenovomutationsofelaneela2inapatientwithseverecongenitalneutropeniarequiringhighdosegcsftherapy‏ ‎‡A Doublede novomutations ofELANE(ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy‏ ‎‡9 1‏
919 ‎‡a doubledenovomutationsofelane‏ ‎‡A Doublede novomutations ofELANE‏ ‎‡9 1‏
919 ‎‡a doublestrandbreaksmayinitiatetheinversionmutationcausingthehuntersyndrome‏ ‎‡A Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.‏ ‎‡9 1‏
919 ‎‡a dnarepairgenesareselectivelymutatedindiffuselargebcelllymphomas‏ ‎‡A DNA repair genes are selectively mutated in diffuse large B cell lymphomas‏ ‎‡9 1‏
919 ‎‡a distinctpatternsofkrasmutationsincolorectalcarcinomasaccordingtogermlinemismatchrepairdefectsandhmlh1methylationstatus‏ ‎‡A Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status‏ ‎‡9 1‏
919 ‎‡a differentmutationsinpde4dassociatedwithdevelopmentaldisorderswithmirrorphenotypes‏ ‎‡A Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.‏ ‎‡9 1‏
919 ‎‡a concurrentmicrodeletionandduplicationof22q112‏ ‎‡A Concurrent microdeletion and duplication of 22q11.2.‏ ‎‡9 1‏
919 ‎‡a chimerismresultingfromparthenogeneticactivationanddispermicfertilization‏ ‎‡A Chimerism resulting from parthenogenetic activation and dispermic fertilization‏ ‎‡9 1‏
919 ‎‡a applicationofa5tieredschemeforstandardizedclassificationof2360uniquemismatchrepairgenevariantsintheinsightlocusspecificdatabase‏ ‎‡A Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database‏ ‎‡9 1‏
919 ‎‡a analysisofa436kbdeletioninapatientwithhuntersyndromempsiiidentificationofafusiontranscriptincludingsequencesfromthegenewandtheidsgene‏ ‎‡A Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene‏ ‎‡9 1‏
919 ‎‡a absenceofmotilingenemutationsininfantilehypertrophicpyloricstenosis‏ ‎‡A Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis‏ ‎‡9 1‏
919 ‎‡a novelduplicationinthehoxa13geneinafamilywithatypicalhandfootgenitalsyndrome‏ ‎‡A A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.‏ ‎‡9 1‏
919 ‎‡a newsusceptibilitylocusforhypospadiasonchromosome7q322q361‏ ‎‡A A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1‏ ‎‡9 1‏
919 ‎‡a newcornealdiseasewithrecurrenterosiveepisodesandautosomaldominantinheritance‏ ‎‡A A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance‏ ‎‡9 1‏
919 ‎‡a complexdicer1syndromephenotypeassociatedwithagermlinepathogenicvariantaffectingthernaseiiiadomainofdicer1‏ ‎‡A A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1‏ ‎‡9 1‏
919 ‎‡a casewithbladderexstrophyandunbalanced10chromosomerearrangement‏ ‎‡A A case with bladder exstrophy and unbalanced X chromosome rearrangement‏ ‎‡9 1‏
919 ‎‡a 2distinctdeletionsintheidsgeneandthegenewanoveltypeofmutationassociatedwiththehuntersyndrome‏ ‎‡A Two Distinct Deletions in theIDSGene and the GeneW: A Novel Type of Mutation Associated with the Hunter Syndrome‏ ‎‡9 2‏
919 ‎‡a valinealleleofthev89lpolymorphisminthe5alphareductasegeneconfersareducedriskforhypospadias‏ ‎‡A The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias‏ ‎‡9 1‏
919 ‎‡a clinicalphenotypeoflynchsyndromeduetogermlinepms2mutations‏ ‎‡A The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations‏ ‎‡9 1‏
919 ‎‡a brca1exon13duplicationintheswedishpopulation‏ ‎‡A The BRCA1 exon 13 duplication in the Swedish population‏ ‎‡9 1‏
919 ‎‡a apparentgeneticanticipationinpms2associatedlynchsyndromefamiliesisexplainedbybirthcohorteffect‏ ‎‡A The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect‏ ‎‡9 1‏
919 ‎‡a addedvalueofpms2immunostaininginthediagnosisofhereditarynonpolyposiscolorectalcancer‏ ‎‡A The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer‏ ‎‡9 1‏
919 ‎‡a sticklersyndromecausedbycol2a1mutationsgenotypephenotypecorrelationinaseriesof100patients‏ ‎‡A Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients‏ ‎‡9 1‏
919 ‎‡a slc1a3variantassociatedwithhemiplegicmigraineandacetazolamideresponsivemrschanges‏ ‎‡A SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes‏ ‎‡9 1‏
919 ‎‡a polymorphismsofestrogenreceptorbetageneareassociatedwithhypospadias‏ ‎‡A Polymorphisms of estrogen receptor beta gene are associated with hypospadias.‏ ‎‡9 1‏
919 ‎‡a patientmatcheracustomizablepythonbasedopensourcetoolformatchingundiagnosedrarediseasepatientsviathematchmakerexchangenetwork‏ ‎‡A PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network‏ ‎‡9 1‏
919 ‎‡a partialtetrasomy14associatedwithmultiplemalformations‏ ‎‡A Partial tetrasomy 14 associated with multiple malformations.‏ ‎‡9 1‏
996 ‎‡2 ISNI|0000000043056574‏
996 ‎‡2 ISNI|0000000500460848‏
996 ‎‡2 ISNI|0000000067765631‏
996 ‎‡2 PTBNP|278998‏
996 ‎‡2 LC|no2006067739‏
996 ‎‡2 LC|no2019092825‏
996 ‎‡2 J9U|987007333541005171‏
996 ‎‡2 LC|n 85818370‏
996 ‎‡2 NII|DA03917576‏
996 ‎‡2 LC|no2018089938‏
996 ‎‡2 ISNI|0000000032897570‏
996 ‎‡2 LC|nb2018016965‏
996 ‎‡2 NTA|152796665‏
996 ‎‡2 LC|nb2014017299‏
996 ‎‡2 CAOONL|ncf10923840‏
996 ‎‡2 NUKAT|n 2008141654‏
996 ‎‡2 SUDOC|190189770‏
996 ‎‡2 LIH|LNB:C_x_J6;=B_h_‏
996 ‎‡2 CAOONL|ncf11522021‏
996 ‎‡2 ISNI|0000000028662824‏
996 ‎‡2 NTA|422780316‏
996 ‎‡2 ISNI|0000000114562520‏
996 ‎‡2 LC|no2018037212‏
996 ‎‡2 ISNI|0000000500616144‏
996 ‎‡2 NSK|000265285‏
996 ‎‡2 CAOONL|ncf10321043‏
996 ‎‡2 LC|no 99028701‏
996 ‎‡2 DBC|87097969668143‏
996 ‎‡2 ISNI|0000000451406289‏
996 ‎‡2 RERO|A003752157‏
996 ‎‡2 LC|no2019110309‏
996 ‎‡2 DNB|128186801‏
996 ‎‡2 SUDOC|104604867‏
996 ‎‡2 LC|n 85818355‏
996 ‎‡2 BIBSYS|90929277‏
996 ‎‡2 LC|no2018149265‏
996 ‎‡2 ISNI|0000000476921228‏
996 ‎‡2 ISNI|0000000053119882‏
996 ‎‡2 NTA|072103108‏
996 ‎‡2 LC|n 2013036558‏
996 ‎‡2 RERO|A009230055‏
996 ‎‡2 SUDOC|087658607‏
996 ‎‡2 NKC|xx0116310‏
996 ‎‡2 ISNI|0000000409830158‏
996 ‎‡2 LC|no2011020862‏
996 ‎‡2 LC|no 99010729‏
996 ‎‡2 LC|nb2002020877‏
996 ‎‡2 LC|n 87838703‏
996 ‎‡2 LC|no2021108055‏
996 ‎‡2 LC|no2020048619‏
996 ‎‡2 BIBSYS|90087188‏
996 ‎‡2 ISNI|0000000043838525‏
996 ‎‡2 LC|n 88205157‏
996 ‎‡2 VLACC|000039284‏
996 ‎‡2 LC|n 97059516‏
996 ‎‡2 ISNI|0000000501375338‏
996 ‎‡2 BIBSYS|90188974‏
996 ‎‡2 ISNI|0000000036054570‏
996 ‎‡2 LC|n 2015039340‏
996 ‎‡2 NII|DA07760931‏
996 ‎‡2 ISNI|0000000039255765‏
996 ‎‡2 LC|nr 94037963‏
996 ‎‡2 LC|no 99027142‏
996 ‎‡2 LC|n 2008076488‏
996 ‎‡2 ISNI|0000000454311939‏
996 ‎‡2 N6I|vtls000023308‏
996 ‎‡2 NUKAT|n 2015143321‏
996 ‎‡2 PLWABN|9810597763505606‏
996 ‎‡2 CAOONL|ncf10225441‏
996 ‎‡2 LC|nb2009008612‏
996 ‎‡2 PLWABN|9810599772405606‏
996 ‎‡2 LC|no2009112605‏
996 ‎‡2 ISNI|0000000027586647‏
996 ‎‡2 BIBSYS|10005616‏
996 ‎‡2 BIBSYS|2050918‏
996 ‎‡2 CAOONL|ncf11923752‏
996 ‎‡2 B2Q|0000119704‏
996 ‎‡2 ISNI|0000000030781208‏
996 ‎‡2 LC|n 2023053976‏
996 ‎‡2 BIBSYS|11050740‏
996 ‎‡2 LC|n 2016004602‏
996 ‎‡2 J9U|987007386100205171‏
996 ‎‡2 LC|no2003117952‏
996 ‎‡2 NTA|163126917‏
996 ‎‡2 LC|n 85803748‏
996 ‎‡2 ISNI|0000000496932127‏
996 ‎‡2 N6I|vtls000030792‏
996 ‎‡2 ISNI|0000000075959161‏
996 ‎‡2 ISNI|0000000041418631‏
996 ‎‡2 RERO|A009201048‏
996 ‎‡2 NII|DA17330600‏
996 ‎‡2 LC|nb2008003401‏
996 ‎‡2 ISNI|0000000115392834‏
996 ‎‡2 LC|n 2004012751‏
996 ‎‡2 LC|no 98119798‏
996 ‎‡2 LC|no2018034063‏
996 ‎‡2 ISNI|0000000408832071‏
996 ‎‡2 LC|no2024019282‏
996 ‎‡2 LC|n 87828878‏
996 ‎‡2 J9U|987007372135105171‏
996 ‎‡2 ISNI|0000000059008948‏
997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏