VIAF

Virtual International Authority File

Search

Leader 00000nz a2200037n 45 0
001 WKP|Q55436911 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241221010723.0
008 241221nneanz||abbn n and d
035 ‎‡a (WKP)Q55436911‏
024 ‎‡a 0000-0001-5889-2492‏ ‎‡2 orcid‏
024 ‎‡a 7202484516‏ ‎‡2 scopus‏
035 ‎‡a (OCoLC)Q55436911‏
100 0 ‎‡a Ana Berta Sousa‏ ‎‡9 ast‏ ‎‡9 es‏ ‎‡9 sl‏
375 ‎‡a 2‏ ‎‡2 iso5218‏
400 0 ‎‡a Ana Berta Sousa‏ ‎‡c researcher‏ ‎‡9 en‏
400 0 ‎‡a Ana Berta Sousa‏ ‎‡c onderzoeker‏ ‎‡9 nl‏
670 ‎‡a Author's A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update‏
670 ‎‡a Author's An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.‏
670 ‎‡a Author's AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data‏
670 ‎‡a Author's Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD‏
670 ‎‡a Author's Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population‏
670 ‎‡a Author's Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.‏
670 ‎‡a Author's Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.‏
670 ‎‡a Author's Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations‏
670 ‎‡a Author's Macrodactyly in tuberous sclerosis complex: Case report and review of the literature.‏
670 ‎‡a Author's Neonatal McCune-Albright syndrome with systemic involvement: a case report‏
670 ‎‡a Author's Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C‏
670 ‎‡a Author's Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus‏
670 ‎‡a Author's PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome‏
670 ‎‡a Author's Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes‏
670 ‎‡a Author's The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis‏
670 ‎‡a Author's Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach‏
670 ‎‡a Author's VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease‏
909 ‎‡a (scopus) 7202484516‏ ‎‡9 1‏
909 ‎‡a (orcid) 0000000158892492‏ ‎‡9 1‏
919 ‎‡a automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata‏ ‎‡A AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data‏ ‎‡9 1‏
919 ‎‡a macrodactylyintuberoussclerosiscomplexcasereportandreviewoftheliterature‏ ‎‡A Macrodactyly in tuberous sclerosis complex: Case report and review of the literature.‏ ‎‡9 1‏
919 ‎‡a psmb8encodingtheβ5iproteasomesubunitismutatedinjointcontracturesmuscleatrophymicrocyticanemiaandpanniculitisinducedlipodystrophysyndrome‏ ‎‡A PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome‏ ‎‡9 1‏
919 ‎‡a 1geneticlandscapeofinheritedretinaldystrophiesinportuguesepatientsidentifiesrecurrenthomozygousmutationsasafrequentcauseofpathogenesis‏ ‎‡A The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis‏ ‎‡9 1‏
919 ‎‡a prenataldiagnosisofholoprosencephalyassociatedwithsmithlemliopitzsyndromeslosina4620fetus‏ ‎‡A Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus‏ ‎‡9 1‏
919 ‎‡a phenotypicanalysisofindividualswithcostellosyndromeduetohraspg13c‏ ‎‡A Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C‏ ‎‡9 1‏
919 ‎‡a neonatalmccunealbrightsyndromewithsystemicinvolvementacasereport‏ ‎‡A Neonatal McCune-Albright syndrome with systemic involvement: a case report‏ ‎‡9 1‏
919 ‎‡a descriptionofachildwitha6q141q161interstitialdeletionaveryrareentitywithairwaymanifestations‏ ‎‡A Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations‏ ‎‡9 1‏
919 ‎‡a defectiveproteolyticprocessingoffibrillarprocollagensandprodecorinduetobiallelicbmp1mutationsresultsinasevereprogressiveformofosteogenesisimperfecta‏ ‎‡A Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.‏ ‎‡9 1‏
919 ‎‡a comprehensivemassiveparalleldnasequencingstrategyforthegeneticdiagnosisoftheneurocardiofaciocutaneoussyndromes‏ ‎‡A Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.‏ ‎‡9 1‏
919 ‎‡a novelmutationofthehnf1bgeneassociatedwithhypoplasticglomerulocystickidneydiseaseandneonatalrenalfailureacasereportandmutationupdate‏ ‎‡A A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update‏ ‎‡9 1‏
919 ‎‡a clinicalandmolecularcharacterizationofdiastrophicdysplasiaintheportuguesepopulation‏ ‎‡A Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population‏ ‎‡9 1‏
919 ‎‡a unravelingthepathogenesisofarxpolyalaninetractvariantsusingaclinicalandmolecularinterfacingapproach‏ ‎‡A Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach‏ ‎‡9 1‏
919 ‎‡a autosomalrecessivesyndromeofjointcontracturesmuscularatrophymicrocyticanemiaandpanniculitisassociatedlipodystrophy‏ ‎‡A An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.‏ ‎‡9 1‏
919 ‎‡a broadeninginpp5ephenotypicspectrumdetectionofrarevariantsinsyndromicandnonsyndromicird‏ ‎‡A Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD‏ ‎‡9 1‏
919 ‎‡a searchforrecql4mutationsin39patientsgenotypedforsuspectedrothmundthomsonballergeroldsyndromes‏ ‎‡A Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes‏ ‎‡9 1‏
919 ‎‡a vrk1variantsin2portugueseunrelatedpatientswithchildhoodonsetmotorneurondisease‏ ‎‡A VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease‏ ‎‡9 1‏
946 ‎‡a a‏ ‎‡9 1‏
996 ‎‡2 PTBNP|1525163‏
996 ‎‡2 PTBNP|137746‏
996 ‎‡2 ISNI|0000000070636689‏
996 ‎‡2 BLBNB|001495776‏
996 ‎‡2 LC|n 2011214779‏
996 ‎‡2 ISNI|0000000070396320‏
996 ‎‡2 DNB|1074921437‏
996 ‎‡2 SIMACOB|414001411‏
996 ‎‡2 NSK|000712186‏
996 ‎‡2 BLBNB|000504427‏
996 ‎‡2 BLBNB|000455179‏
996 ‎‡2 LC|n 2006065140‏
996 ‎‡2 PTBNP|167098‏
996 ‎‡2 ISNI|0000000073149755‏
996 ‎‡2 LC|n 82137624‏
996 ‎‡2 DNB|131788884‏
996 ‎‡2 ISNI|0000000070596971‏
996 ‎‡2 ISNI|0000000041007162‏
996 ‎‡2 ISNI|0000000069312548‏
996 ‎‡2 PTBNP|1447313‏
996 ‎‡2 BLBNB|001567575‏
996 ‎‡2 PTBNP|1794732‏
996 ‎‡2 PTBNP|1584182‏
996 ‎‡2 LC|n 2023252049‏
996 ‎‡2 PTBNP|1679886‏
996 ‎‡2 PTBNP|276725‏
996 ‎‡2 PTBNP|1816753‏
996 ‎‡2 ISNI|0000000067782407‏
996 ‎‡2 SUDOC|181459493‏
996 ‎‡2 ISNI|0000000116916134‏
996 ‎‡2 BNE|XX1074926‏
996 ‎‡2 PTBNP|1009003‏
996 ‎‡2 PTBNP|1363182‏
996 ‎‡2 SUDOC|108949877‏
996 ‎‡2 PTBNP|1508811‏
996 ‎‡2 ISNI|0000000083665788‏
996 ‎‡2 PTBNP|1370134‏
996 ‎‡2 PTBNP|1629486‏
996 ‎‡2 LC|n 2016258624‏
996 ‎‡2 PTBNP|1547726‏
996 ‎‡2 ISNI|0000000093758144‏
996 ‎‡2 NTA|409042323‏
996 ‎‡2 BLBNB|001112695‏
996 ‎‡2 PTBNP|166128‏
996 ‎‡2 BLBNB|001582603‏
996 ‎‡2 ISNI|0000000068580452‏
996 ‎‡2 PTBNP|1464765‏
996 ‎‡2 PTBNP|226267‏
996 ‎‡2 ISNI|000000006849321X‏
996 ‎‡2 LC|no2007093985‏
996 ‎‡2 CAOONL|ncf11564103‏
996 ‎‡2 LC|n 2023254661‏
996 ‎‡2 LC|n 2023250323‏
996 ‎‡2 PTBNP|982684‏
996 ‎‡2 RERO|A000143784‏
996 ‎‡2 ISNI|0000000070986806‏
996 ‎‡2 BNF|16246904‏
996 ‎‡2 ISNI|0000000365748354‏
996 ‎‡2 LC|no2005079280‏
996 ‎‡2 PTBNP|122094‏
996 ‎‡2 ISNI|000000036087807X‏
996 ‎‡2 DNB|1056315555‏
996 ‎‡2 CAOONL|ncf10254984‏
996 ‎‡2 ISNI|0000000066588143‏
996 ‎‡2 LC|n 2007207019‏
996 ‎‡2 PTBNP|256876‏
996 ‎‡2 PTBNP|231491‏
996 ‎‡2 PTBNP|100821‏
996 ‎‡2 PTBNP|119246‏
996 ‎‡2 PTBNP|176467‏
996 ‎‡2 PTBNP|1892432‏
996 ‎‡2 DNB|1062133137‏
996 ‎‡2 J9U|987007332987305171‏
996 ‎‡2 PTBNP|1307914‏
996 ‎‡2 PTBNP|1865664‏
996 ‎‡2 PTBNP|250578‏
996 ‎‡2 PTBNP|227255‏
996 ‎‡2 ISNI|0000000078735454‏
996 ‎‡2 LC|n 99901180‏
996 ‎‡2 ISNI|0000000071002717‏
996 ‎‡2 SUDOC|103466568‏
996 ‎‡2 PTBNP|1663145‏
996 ‎‡2 ISNI|0000000140173350‏
996 ‎‡2 PTBNP|149726‏
996 ‎‡2 DNB|1051889022‏
996 ‎‡2 ISNI|000000003628769X‏
996 ‎‡2 ISNI|0000000069826776‏
996 ‎‡2 ISNI|0000000077935411‏
996 ‎‡2 PTBNP|1895194‏
996 ‎‡2 ISNI|0000000066375834‏
996 ‎‡2 ISNI|0000000070020737‏
996 ‎‡2 PTBNP|224407‏
996 ‎‡2 ISNI|0000000385409608‏
996 ‎‡2 ISNI|000000005978658X‏
996 ‎‡2 LC|n 2008215577‏
996 ‎‡2 PTBNP|1623269‏
996 ‎‡2 ISNI|0000000373490314‏
996 ‎‡2 DNB|1047591642‏
996 ‎‡2 PTBNP|1280479‏
996 ‎‡2 PTBNP|1447288‏
996 ‎‡2 LC|no2006027575‏
996 ‎‡2 PTBNP|1336428‏
996 ‎‡2 BLBNB|000562171‏
996 ‎‡2 BLBNB|000467365‏
996 ‎‡2 BLBNB|001125394‏
996 ‎‡2 DNB|1056409851‏
996 ‎‡2 SUDOC|226106918‏
996 ‎‡2 DNB|1157049710‏
996 ‎‡2 DNB|131597469‏
996 ‎‡2 ISNI|0000000069396518‏
996 ‎‡2 ISNI|0000000070531430‏
996 ‎‡2 PTBNP|1440068‏
996 ‎‡2 ISNI|0000000025717340‏
996 ‎‡2 PTBNP|114779‏
996 ‎‡2 LC|n 95083810‏
996 ‎‡2 ISNI|0000000069989735‏
996 ‎‡2 PTBNP|715693‏
996 ‎‡2 ISNI|0000000070413397‏
996 ‎‡2 LC|n 94057663‏
996 ‎‡2 PTBNP|36107‏
996 ‎‡2 DNB|1043252010‏
996 ‎‡2 PTBNP|985809‏
996 ‎‡2 DNB|1236998413‏
996 ‎‡2 PTBNP|1305744‏
996 ‎‡2 ISNI|0000000068713366‏
996 ‎‡2 ISNI|0000000103166215‏
996 ‎‡2 BNF|16717861‏
996 ‎‡2 PTBNP|1807076‏
996 ‎‡2 ISNI|0000000069315992‏
996 ‎‡2 BLBNB|000394257‏
996 ‎‡2 NKC|nlk20020125673‏
996 ‎‡2 PTBNP|200888‏
996 ‎‡2 PTBNP|1772418‏
996 ‎‡2 PTBNP|1281454‏
996 ‎‡2 PTBNP|115622‏
996 ‎‡2 LC|n 2021048703‏
996 ‎‡2 LC|nb2011006055‏
996 ‎‡2 PTBNP|235527‏
996 ‎‡2 ISNI|0000000078818305‏
996 ‎‡2 BLBNB|001564028‏
996 ‎‡2 BLBNB|000524258‏
996 ‎‡2 ISNI|0000000081692707‏
996 ‎‡2 DNB|1339054035‏
996 ‎‡2 DNB|123098289‏
996 ‎‡2 ISNI|0000000511043628‏
996 ‎‡2 BLBNB|001446506‏
996 ‎‡2 SUDOC|177531746‏
996 ‎‡2 ISNI|0000000016370744‏
996 ‎‡2 BLBNB|001423686‏
996 ‎‡2 ISNI|0000000066605169‏
996 ‎‡2 PTBNP|1643400‏
996 ‎‡2 PTBNP|1447615‏
996 ‎‡2 PTBNP|1591958‏
996 ‎‡2 CAOONL|ncf11278368‏
996 ‎‡2 PTBNP|1923347‏
996 ‎‡2 PTBNP|1011996‏
996 ‎‡2 PTBNP|1007578‏
996 ‎‡2 PTBNP|1619541‏
996 ‎‡2 LC|no2015095095‏
996 ‎‡2 RERO|A006604179‏
996 ‎‡2 ISNI|0000000070117109‏
996 ‎‡2 ISNI|0000000023560423‏
996 ‎‡2 PTBNP|1278760‏
996 ‎‡2 LC|n 79009384‏
996 ‎‡2 SUDOC|072481218‏
996 ‎‡2 ISNI|000000010054708X‏
996 ‎‡2 PTBNP|122078‏
996 ‎‡2 ISNI|0000000068398538‏
996 ‎‡2 PTBNP|176965‏
996 ‎‡2 ISNI|0000000118537883‏
996 ‎‡2 PTBNP|1659582‏
996 ‎‡2 ISNI|0000000069614781‏
996 ‎‡2 LC|n 2020183291‏
996 ‎‡2 ISNI|0000000048379890‏
996 ‎‡2 ISNI|0000000112606294‏
996 ‎‡2 PTBNP|151771‏
996 ‎‡2 PTBNP|1903764‏
996 ‎‡2 PTBNP|1874456‏
996 ‎‡2 PTBNP|1626720‏
996 ‎‡2 PTBNP|1401823‏
996 ‎‡2 ISNI|0000000069083394‏
996 ‎‡2 LC|n 98041897‏
996 ‎‡2 ISNI|0000000040360511‏
996 ‎‡2 BLBNB|001520230‏
996 ‎‡2 PTBNP|69154‏
996 ‎‡2 PTBNP|1435305‏
996 ‎‡2 ISNI|000000007011627X‏
996 ‎‡2 LC|n 2023254171‏
996 ‎‡2 PTBNP|1301283‏
996 ‎‡2 LC|n 2021250504‏
996 ‎‡2 BLBNB|000378717‏
996 ‎‡2 NUKAT|n 2013176800‏
996 ‎‡2 ISNI|0000000070022935‏
996 ‎‡2 BLBNB|001512650‏
996 ‎‡2 PTBNP|31406‏
996 ‎‡2 LC|nb2014000158‏
996 ‎‡2 RERO|A009611520‏
996 ‎‡2 PTBNP|231927‏
996 ‎‡2 SUDOC|279926677‏
996 ‎‡2 ISNI|0000000070921738‏
996 ‎‡2 ISNI|0000000069820622‏
996 ‎‡2 ISNI|0000000453956970‏
996 ‎‡2 PTBNP|1886001‏
996 ‎‡2 DNB|1159109974‏
996 ‎‡2 PTBNP|1274840‏
996 ‎‡2 PTBNP|224547‏
996 ‎‡2 ISNI|0000000069293906‏
996 ‎‡2 ISNI|0000000078445537‏
996 ‎‡2 ISNI|0000000068579021‏
996 ‎‡2 PTBNP|1290976‏
996 ‎‡2 LC|n 2008217241‏
996 ‎‡2 PTBNP|31702‏
996 ‎‡2 BIBSYS|1682591864441‏
996 ‎‡2 PTBNP|272176‏
996 ‎‡2 LC|no2023082840‏
996 ‎‡2 ISNI|0000000068698776‏
996 ‎‡2 BLBNB|000675338‏
996 ‎‡2 PTBNP|1449685‏
996 ‎‡2 BLBNB|000359934‏
996 ‎‡2 PTBNP|1417718‏
996 ‎‡2 ISNI|0000000036178282‏
996 ‎‡2 PTBNP|1580263‏
996 ‎‡2 LC|n 2020182530‏
996 ‎‡2 PTBNP|260520‏
996 ‎‡2 LC|n 2015238447‏
996 ‎‡2 LC|no2003082967‏
996 ‎‡2 CAOONL|ncf11890682‏
996 ‎‡2 PTBNP|1143706‏
996 ‎‡2 PTBNP|1688955‏
996 ‎‡2 DNB|1074701135‏
996 ‎‡2 ISNI|0000000080081605‏
996 ‎‡2 LC|n 2001002523‏
996 ‎‡2 BLBNB|001034863‏
996 ‎‡2 ISNI|0000000033736955‏
996 ‎‡2 LC|n 2012018956‏
996 ‎‡2 PTBNP|1396865‏
996 ‎‡2 PTBNP|210636‏
996 ‎‡2 PTBNP|86200‏
996 ‎‡2 BLBNB|000347819‏
996 ‎‡2 ISNI|0000000070841463‏
996 ‎‡2 PTBNP|1228905‏
996 ‎‡2 ISNI|0000000068598142‏
996 ‎‡2 BLBNB|000392260‏
996 ‎‡2 LC|n 2015235518‏
996 ‎‡2 ISNI|0000000067629074‏
996 ‎‡2 ISNI|0000000097833551‏
996 ‎‡2 ISNI|0000000356403231‏
996 ‎‡2 ISNI|0000000078092276‏
996 ‎‡2 PTBNP|1611853‏
996 ‎‡2 ISNI|000000006969542X‏
997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏