Search
| Leader | 00000nz a2200037n 45 0 | ||
|---|---|---|---|
| 001 | WKP|Q45485109 (VIAF cluster) (Authority/Source Record) | ||
| 003 | WKP | ||
| 005 | 20241121000045.0 | ||
| 008 | 241121nneanz||abbn n and d | ||
| 035 | ‡a (WKP)Q45485109 | ||
| 024 | ‡a 0000-0002-2739-9854 ‡2 orcid | ||
| 024 | ‡a 35084254900 ‡2 scopus | ||
| 035 | ‡a (OCoLC)Q45485109 | ||
| 100 | 0 | ‡a Eduardo Silva ‡9 ast ‡9 es ‡9 sl | |
| 375 | ‡a 1 ‡2 iso5218 | ||
| 400 | 0 | ‡a Eduardo Silva ‡c researcher (ORCID 0000-0002-2739-9854) ‡9 en | |
| 400 | 0 | ‡a Eduardo Silva ‡c wetenschapper ‡9 nl | |
| 670 | ‡a Author's A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis. | ||
| 670 | ‡a Author's A novel locus for Leber congenital amaurosis maps to chromosome 6q | ||
| 670 | ‡a Author's Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1. | ||
| 670 | ‡a Author's ALDH1A3 mutations cause recessive anophthalmia and microphthalmia | ||
| 670 | ‡a Author's AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation | ||
| 670 | ‡a Author's Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report | ||
| 670 | ‡a Author's BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus | ||
| 670 | ‡a Author's Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism | ||
| 670 | ‡a Author's Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome | ||
| 670 | ‡a Author's Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein | ||
| 670 | ‡a Author's Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities | ||
| 670 | ‡a Author's Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations | ||
| 670 | ‡a Author's Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly | ||
| 670 | ‡a Author's Multivariate pattern analysis reveals subtle brain anomalies relevant to the cognitive phenotype in neurofibromatosis type 1. | ||
| 670 | ‡a Author's Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy | ||
| 670 | ‡a Author's Neural correlates of visual integration in Williams syndrome: gamma oscillation patterns in a model of impaired coherence | ||
| 670 | ‡a Author's Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level | ||
| 670 | ‡a Author's Quantitative phenotyping of chromatic dysfunction in best macular dystrophy. | ||
| 670 | ‡a Author's Risk of multiple sclerosis after optic neuritis in patients with normal baseline brain MRI. | ||
| 670 | ‡a Author's The ciliopathies and their relationship with ophthalmology. | ||
| 909 | ‡a (scopus) 35084254900 ‡9 1 | ||
| 909 | ‡a (orcid) 0000000227399854 ‡9 1 | ||
| 919 | ‡a ciliopathiesandtheirrelationshipwithophthalmology ‡A The ciliopathies and their relationship with ophthalmology. ‡9 1 | ||
| 919 | ‡a riskofmultiplesclerosisafteropticneuritisinpatientswithnormalbaselinebrainmri ‡A Risk of multiple sclerosis after optic neuritis in patients with normal baseline brain MRI. ‡9 1 | ||
| 919 | ‡a quantitativephenotypingofchromaticdysfunctioninbestmaculardystrophy ‡A Quantitative phenotyping of chromatic dysfunction in best macular dystrophy. ‡9 1 | ||
| 919 | ‡a physiologicalevidenceforimpairmentinautosomaldominantopticatrophyatthepreganglionlevel ‡A Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level ‡9 1 | ||
| 919 | ‡a neuralcorrelatesofvisualintegrationinwilliamssyndr Omega mmaoscillationpatternsinamodelofimpairedcoherence ‡A Neural correlates of visual integration in Williams syndrome: gamma oscillation patterns in a model of impaired coherence ‡9 1 | ||
| 919 | ‡a mutationsinnmnat1causelebercongenitalamaurosiswithearlyonsetseveremacularandopticatrophy ‡A Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy ‡9 1 | ||
| 919 | ‡a multivariatepatternanalysisrevealssubtlebrainanomaliesrelevanttothecognitivephenotypeinneurofibromatosistype1 ‡A Multivariate pattern analysis reveals subtle brain anomalies relevant to the cognitive phenotype in neurofibromatosis type 1. ‡9 1 | ||
| 919 | ‡a molecularcharacterizationofafamilialtranslocationimplicatesdisruptionofhdac9andpossiblepositioneffectontgfbeta2inthepathogenesisofpetersanomaly ‡A Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly ‡9 1 | ||
| 919 | ‡a mainzersaldinosyndromeisaciliopathycausedbyift140mutations ‡A Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations ‡9 1 | ||
| 919 | ‡a gyrificationcorticalandsubcorticalmorphometryinneurofibromatosistype1anunevenprofileofdevelopmentalabnormalities ‡A Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities ‡9 1 | ||
| 919 | ‡a extremehyperopiaistheresultofnullmutationsinmfrpwhichencodesafrizzledrelatedprotein ‡A Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein ‡9 1 | ||
| 919 | ‡a cytogeneticallyinvisiblemicrodeletionsinvolvingpitx2inriegersyndrome ‡A Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome ‡9 1 | ||
| 919 | ‡a cryptic7q362q363deletioncausesmultiplecongenitaleyeanomaliesandcraniofacialdysmorphism ‡A Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism ‡9 1 | ||
| 919 | ‡a bbs10encodesavertebratespecificchaperoninlikeproteinandisamajorbbslocus ‡A BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus ‡9 1 | ||
| 919 | ‡a atypicalpresentationoflebershereditaryopticneuropathyassociatedtomtdna11778gapointmutationacasereport ‡A Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report ‡9 1 | ||
| 919 | ‡a aonmediatedexonskippingrestoresciliationinfibroblastsharboringthecommonlebercongenitalamaurosiscep290mutation ‡A AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation ‡9 1 | ||
| 919 | ‡a aldh1a3mutationscauserecessiveanophthalmiaandmicrophthalmia ‡A ALDH1A3 mutations cause recessive anophthalmia and microphthalmia ‡9 1 | ||
| 919 | ‡a abnormalachromaticandchromaticcontrastsensitivityinneurofibromatosistype1 ‡A Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1. ‡9 1 | ||
| 919 | ‡a novellocusforlebercongenitalamaurosismapstochromosome6q ‡A A novel locus for Leber congenital amaurosis maps to chromosome 6q ‡9 1 | ||
| 919 | ‡a missensemutationingucy2dactsasageneticmodifierinrpe65relatedlebercongenitalamaurosis ‡A A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis. ‡9 1 | ||
| 946 | ‡a b ‡9 1 | ||
| 996 | ‡2 PTBNP|1356018 | ||
| 996 | ‡2 DNB|1057329606 | ||
| 996 | ‡2 NTA|073492000 | ||
| 996 | ‡2 DNB|105763817X | ||
| 996 | ‡2 LC|n 85331953 | ||
| 996 | ‡2 SUDOC|073324108 | ||
| 996 | ‡2 BLBNB|000500942 | ||
| 996 | ‡2 LC|n 81069396 | ||
| 996 | ‡2 DNB|1281616133 | ||
| 996 | ‡2 LC|no2005007307 | ||
| 996 | ‡2 NUKAT|n 2012070012 | ||
| 996 | ‡2 BNF|17031020 | ||
| 996 | ‡2 LC|ns2016002978 | ||
| 996 | ‡2 PTBNP|939517 | ||
| 996 | ‡2 DNB|1054922772 | ||
| 996 | ‡2 LC|n 2024056395 | ||
| 996 | ‡2 SUDOC|194160432 | ||
| 996 | ‡2 DNB|1188066129 | ||
| 996 | ‡2 ISNI|0000000067547183 | ||
| 996 | ‡2 BLBNB|000445777 | ||
| 996 | ‡2 ISNI|0000000042577669 | ||
| 996 | ‡2 PTBNP|1659660 | ||
| 996 | ‡2 BNF|15723797 | ||
| 996 | ‡2 ISNI|0000000081677582 | ||
| 996 | ‡2 PTBNP|1785803 | ||
| 996 | ‡2 SUDOC|060772328 | ||
| 996 | ‡2 BLBNB|001565141 | ||
| 996 | ‡2 BLBNB|000289363 | ||
| 996 | ‡2 ISNI|0000000080033777 | ||
| 996 | ‡2 BLBNB|000334671 | ||
| 996 | ‡2 BLBNB|000552691 | ||
| 996 | ‡2 LC|n 2020184917 | ||
| 996 | ‡2 PTBNP|1813979 | ||
| 996 | ‡2 PTBNP|1691201 | ||
| 996 | ‡2 PTBNP|1481888 | ||
| 996 | ‡2 PTBNP|1453419 | ||
| 996 | ‡2 BNF|14630534 | ||
| 996 | ‡2 ISNI|0000000024155737 | ||
| 996 | ‡2 LC|n 2010201599 | ||
| 996 | ‡2 BLBNB|000250022 | ||
| 996 | ‡2 ISNI|0000000117990432 | ||
| 996 | ‡2 NTA|13161942X | ||
| 996 | ‡2 SUDOC|248694995 | ||
| 996 | ‡2 LC|n 84002208 | ||
| 996 | ‡2 DNB|1273021975 | ||
| 996 | ‡2 RERO|A000044339 | ||
| 996 | ‡2 DNB|1057303917 | ||
| 996 | ‡2 ISNI|0000000051258811 | ||
| 996 | ‡2 SUDOC|24136101X | ||
| 996 | ‡2 BLBNB|001589589 | ||
| 996 | ‡2 DNB|130114360X | ||
| 996 | ‡2 SUDOC|196170737 | ||
| 996 | ‡2 CAOONL|ncf10376408 | ||
| 996 | ‡2 J9U|987007449999205171 | ||
| 996 | ‡2 BLBNB|001017434 | ||
| 996 | ‡2 ISNI|0000000039082454 | ||
| 996 | ‡2 PTBNP|137255 | ||
| 996 | ‡2 LC|n 89298396 | ||
| 996 | ‡2 LC|n 90608729 | ||
| 996 | ‡2 ISNI|0000000069787471 | ||
| 996 | ‡2 SUDOC|082347921 | ||
| 996 | ‡2 BLBNB|001025224 | ||
| 996 | ‡2 LC|n 89634876 | ||
| 996 | ‡2 SUDOC|079279635 | ||
| 996 | ‡2 PTBNP|1056762 | ||
| 996 | ‡2 LC|no2013053833 | ||
| 996 | ‡2 PTBNP|124631 | ||
| 996 | ‡2 BLBNB|001429894 | ||
| 996 | ‡2 DNB|1072306190 | ||
| 996 | ‡2 ISNI|0000000046033466 | ||
| 996 | ‡2 ISNI|000000037342996X | ||
| 996 | ‡2 NDL|00475093 | ||
| 996 | ‡2 PTBNP|918007 | ||
| 996 | ‡2 BNCHL|10000000000000000043035 | ||
| 996 | ‡2 BLBNB|001431276 | ||
| 996 | ‡2 LC|n 2024252261 | ||
| 996 | ‡2 LC|n 87941547 | ||
| 996 | ‡2 SUDOC|188235426 | ||
| 996 | ‡2 LC|n 88227135 | ||
| 996 | ‡2 BNF|12038013 | ||
| 996 | ‡2 NII|DA04889793 | ||
| 996 | ‡2 ISNI|0000000036671114 | ||
| 996 | ‡2 BLBNB|000469653 | ||
| 996 | ‡2 SUDOC|116141360 | ||
| 996 | ‡2 BLBNB|000502140 | ||
| 996 | ‡2 PTBNP|1580704 | ||
| 996 | ‡2 PTBNP|1088875 | ||
| 996 | ‡2 SELIBR|338460 | ||
| 996 | ‡2 BLBNB|000385012 | ||
| 996 | ‡2 ISNI|000000008198577X | ||
| 996 | ‡2 PTBNP|1393852 | ||
| 996 | ‡2 NUKAT|n 2023120428 | ||
| 996 | ‡2 NII|DA05096200 | ||
| 996 | ‡2 RERO|A012101563 | ||
| 996 | ‡2 PTBNP|1874219 | ||
| 996 | ‡2 ISNI|000000007984314X | ||
| 996 | ‡2 DNB|1221616609 | ||
| 996 | ‡2 SUDOC|180858785 | ||
| 996 | ‡2 ISNI|0000000040555642 | ||
| 996 | ‡2 ISNI|0000000027168488 | ||
| 996 | ‡2 NTA|073885053 | ||
| 996 | ‡2 ISNI|0000000034643224 | ||
| 996 | ‡2 PLWABN|9814146927805606 | ||
| 996 | ‡2 BLBNB|000534659 | ||
| 996 | ‡2 RERO|A010936917 | ||
| 996 | ‡2 LC|n 2014206405 | ||
| 996 | ‡2 ISNI|0000000501370481 | ||
| 996 | ‡2 LC|no2023008847 | ||
| 996 | ‡2 BNE|XX888849 | ||
| 996 | ‡2 BNF|13492576 | ||
| 996 | ‡2 PTBNP|1512612 | ||
| 996 | ‡2 SUDOC|190623985 | ||
| 996 | ‡2 PTBNP|198601 | ||
| 996 | ‡2 DNB|1147331278 | ||
| 996 | ‡2 LC|no2003088071 | ||
| 996 | ‡2 ISNI|0000000073204988 | ||
| 996 | ‡2 RERO|A017244600 | ||
| 996 | ‡2 PTBNP|1384507 | ||
| 996 | ‡2 BLBNB|000424681 | ||
| 996 | ‡2 BNCHL|10000000000000000130161 | ||
| 996 | ‡2 DNB|126904253X | ||
| 996 | ‡2 PTBNP|1178723 | ||
| 996 | ‡2 DNB|1047663104 | ||
| 996 | ‡2 LC|n 2023253999 | ||
| 996 | ‡2 PLWABN|9812694654805606 | ||
| 996 | ‡2 J9U|987007315804005171 | ||
| 996 | ‡2 PTBNP|1380657 | ||
| 996 | ‡2 ISNI|0000000066725996 | ||
| 996 | ‡2 BIBSYS|90387907 | ||
| 996 | ‡2 BNCHL|10000000000000000245073 | ||
| 996 | ‡2 ISNI|0000000068514850 | ||
| 996 | ‡2 BNCHL|10000000000000000289150 | ||
| 996 | ‡2 NKC|vse2010595390 | ||
| 996 | ‡2 LC|n 82005362 | ||
| 996 | ‡2 DNB|1163856509 | ||
| 996 | ‡2 SUDOC|117904325 | ||
| 996 | ‡2 NTA|239463994 | ||
| 996 | ‡2 LC|no2011041475 | ||
| 996 | ‡2 ISNI|0000000081452076 | ||
| 996 | ‡2 NTA|264188780 | ||
| 996 | ‡2 PTBNP|1701571 | ||
| 996 | ‡2 BLBNB|000568928 | ||
| 996 | ‡2 ISNI|000000041952287X | ||
| 996 | ‡2 BLBNB|000420400 | ||
| 996 | ‡2 LC|n 88107134 | ||
| 996 | ‡2 B2Q|0000083573 | ||
| 996 | ‡2 ISNI|0000000499210760 | ||
| 996 | ‡2 SUDOC|069322473 | ||
| 996 | ‡2 DNB|1045160350 | ||
| 996 | ‡2 BNCHL|10000000000000000097829 | ||
| 996 | ‡2 BLBNB|001033581 | ||
| 996 | ‡2 PTBNP|1767031 | ||
| 996 | ‡2 SUDOC|092667538 | ||
| 996 | ‡2 NTA|314675507 | ||
| 996 | ‡2 BNCHL|10000000000000000797086 | ||
| 996 | ‡2 LC|no2020003468 | ||
| 996 | ‡2 SUDOC|24078975X | ||
| 996 | ‡2 NTA|322618053 | ||
| 996 | ‡2 DNB|1257158643 | ||
| 996 | ‡2 RERO|A013826237 | ||
| 996 | ‡2 PTBNP|1557424 | ||
| 996 | ‡2 DNB|1190666286 | ||
| 996 | ‡2 BLBNB|001569060 | ||
| 996 | ‡2 LC|n 89633268 | ||
| 996 | ‡2 NTA|073238732 | ||
| 996 | ‡2 ISNI|0000000076985177 | ||
| 996 | ‡2 ISNI|0000000070839910 | ||
| 996 | ‡2 ISNI|0000000118372177 | ||
| 996 | ‡2 ISNI|000000008105414X | ||
| 996 | ‡2 BNCHL|10000000000000000259953 | ||
| 996 | ‡2 ISNI|0000000045644003 | ||
| 996 | ‡2 ISNI|0000000068476081 | ||
| 996 | ‡2 BLBNB|001429712 | ||
| 996 | ‡2 ARBABN|000036135 | ||
| 996 | ‡2 LC|no2024052031 | ||
| 996 | ‡2 PTBNP|284660 | ||
| 996 | ‡2 BLBNB|000281162 | ||
| 996 | ‡2 ISNI|0000000032333548 | ||
| 996 | ‡2 PLWABN|9810697915205606 | ||
| 996 | ‡2 NTA|339146559 | ||
| 996 | ‡2 BLBNB|000528173 | ||
| 996 | ‡2 PTBNP|1188868 | ||
| 996 | ‡2 BIBSYS|90543790 | ||
| 996 | ‡2 BLBNB|000470045 | ||
| 996 | ‡2 LC|n 2018242487 | ||
| 996 | ‡2 ISNI|0000000069822740 | ||
| 996 | ‡2 PTBNP|244527 | ||
| 996 | ‡2 BLBNB|001567523 | ||
| 996 | ‡2 DNB|1057557390 | ||
| 996 | ‡2 ISNI|0000000068378238 | ||
| 996 | ‡2 LC|n 87862185 | ||
| 996 | ‡2 ISNI|0000000356468430 | ||
| 996 | ‡2 PLWABN|9810590322705606 | ||
| 996 | ‡2 PTBNP|1390056 | ||
| 996 | ‡2 PTBNP|1020828 | ||
| 996 | ‡2 ISNI|0000000114879982 | ||
| 996 | ‡2 BLBNB|000535975 | ||
| 996 | ‡2 LC|no2017092720 | ||
| 996 | ‡2 SUDOC|250810638 | ||
| 996 | ‡2 SZ|126904253X | ||
| 996 | ‡2 DNB|1112344918 | ||
| 996 | ‡2 NII|DA05237142 | ||
| 996 | ‡2 LC|n 2014206482 | ||
| 996 | ‡2 LC|n 83187673 | ||
| 996 | ‡2 PTBNP|1852853 | ||
| 996 | ‡2 ISNI|0000000394288721 | ||
| 996 | ‡2 RERO|A003633090 | ||
| 996 | ‡2 DNB|1199284858 | ||
| 996 | ‡2 BNE|XX962546 | ||
| 996 | ‡2 BNF|15524299 | ||
| 996 | ‡2 PTBNP|236717 | ||
| 996 | ‡2 BLBNB|000441438 | ||
| 996 | ‡2 LC|nb2015012234 | ||
| 996 | ‡2 BLBNB|000176861 | ||
| 996 | ‡2 LC|no 00094844 | ||
| 996 | ‡2 BLBNB|001130438 | ||
| 996 | ‡2 LC|n 2011016239 | ||
| 996 | ‡2 PTBNP|77946 | ||
| 996 | ‡2 PTBNP|1423794 | ||
| 996 | ‡2 BLBNB|001417582 | ||
| 996 | ‡2 NUKAT|n 2004250678 | ||
| 996 | ‡2 BLBNB|000352787 | ||
| 996 | ‡2 LC|nb2006022266 | ||
| 996 | ‡2 DNB|1268207977 | ||
| 996 | ‡2 BLBNB|001038500 | ||
| 996 | ‡2 LC|n 2023250584 | ||
| 996 | ‡2 NTA|239723317 | ||
| 996 | ‡2 LC|n 83175579 | ||
| 996 | ‡2 DNB|1163955116 | ||
| 996 | ‡2 RERO|A000009336 | ||
| 996 | ‡2 DNB|134071506 | ||
| 996 | ‡2 ISNI|0000000451372189 | ||
| 996 | ‡2 ISNI|0000000068001078 | ||
| 996 | ‡2 NUKAT|n 2003030212 | ||
| 996 | ‡2 PTBNP|207268 | ||
| 996 | ‡2 BNCHL|10000000000000000797496 | ||
| 996 | ‡2 J9U|987007335613605171 | ||
| 996 | ‡2 ISNI|0000000081952468 | ||
| 996 | ‡2 PTBNP|1287727 | ||
| 996 | ‡2 ISNI|0000000074623164 | ||
| 996 | ‡2 PTBNP|1443906 | ||
| 996 | ‡2 BLBNB|000509479 | ||
| 996 | ‡2 LC|n 2008216268 | ||
| 996 | ‡2 BNCHL|10000000000000000809655 | ||
| 996 | ‡2 J9U|987007425932105171 | ||
| 996 | ‡2 BLBNB|001567373 | ||
| 996 | ‡2 NTA|09999030X | ||
| 996 | ‡2 ISNI|0000000026792430 | ||
| 996 | ‡2 BLBNB|000561821 | ||
| 996 | ‡2 ISNI|0000000450518764 | ||
| 997 | ‡a 0 0 lived 0 0 ‡9 1 |
