Search
| Leader | 00000nz a2200037n 45 0 | ||
|---|---|---|---|
| 001 | WKP|Q56424218 (VIAF cluster) (Authority/Source Record) | ||
| 003 | WKP | ||
| 005 | 20241020233146.0 | ||
| 008 | 241020nneanz||abbn n and d | ||
| 035 | ‡a (WKP)Q56424218 | ||
| 024 | ‡a 0000-0002-6041-1763 ‡2 orcid | ||
| 024 | ‡a 56543924200 ‡2 scopus | ||
| 035 | ‡a (OCoLC)Q56424218 | ||
| 100 | 0 | ‡a João Silva ‡c researcher ORCID: 0000-0002-6041-1763 ‡9 en | |
| 375 | ‡a 1 ‡2 iso5218 | ||
| 400 | 0 | ‡a João Silva ‡c onderzoeker ‡9 nl | |
| 670 | ‡a Author's CADASIL: MRI may be normal in the fourth decade of life - a case report. | ||
| 670 | ‡a Author's Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe | ||
| 670 | ‡a Author's Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome | ||
| 670 | ‡a Author's Further clinical and molecular delineation of the 15q24 microdeletion syndrome | ||
| 670 | ‡a Author's [Genetics on Primary Healthcare: A Multidisciplinary Perspective] | ||
| 670 | ‡a Author's Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis | ||
| 670 | ‡a Author's Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. | ||
| 670 | ‡a Author's Redefining the MED13L syndrome | ||
| 670 | ‡a Author's Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations | ||
| 670 | ‡a Author's The contribution of 7q33 copy number variations for intellectual disability | ||
| 909 | ‡a (scopus) 56543924200 ‡9 1 | ||
| 909 | ‡a (orcid) 0000000260411763 ‡9 1 | ||
| 919 | ‡a cadasilmrimaybenormalinthe4decadeoflifeacasereport ‡A CADASIL: MRI may be normal in the fourth decade of life - a case report. ‡9 1 | ||
| 919 | ‡a spectrumofatypicalclinicalpresentationsinpatientswithbiallelicprf1missensemutations ‡A Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations ‡9 1 | ||
| 919 | ‡a paternaltransmissionofsubcorticalbandheterotopiathrough610somaticmosaicism ‡A Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. ‡9 1 | ||
| 919 | ‡a redefiningthemed13lsyndrome ‡A Redefining the MED13L syndrome ‡9 1 | ||
| 919 | ‡a contributionof7q33copynumbervariationsforintellectualdisability ‡A The contribution of 7q33 copy number variations for intellectual disability ‡9 1 | ||
| 919 | ‡a geneticsonprimaryhealthcareamultidisciplinaryperspective ‡A [Genetics on Primary Healthcare: A Multidisciplinary Perspective] ‡9 1 | ||
| 919 | ‡a mutationsingenesencodingcondensincomplexproteinscausemicrocephalythroughdecatenationfailureatmitosis ‡A Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis ‡9 1 | ||
| 919 | ‡a furtherclinicalandmoleculardelineationofthe15q24microdeletionsyndrome ‡A Further clinical and molecular delineation of the 15q24 microdeletion syndrome ‡9 1 | ||
| 919 | ‡a developmentofnipbllocusspecificdatabaseusinglovdfromnovelmutationstofurthergenotypephenotypecorrelationsincorneliadelangesyndrome ‡A Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome ‡9 1 | ||
| 919 | ‡a complementaritybetweenmedicalgeneticistsandgeneticcounsellorsitsaddedvalueingeneticservicesineurope ‡A Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe ‡9 1 | ||
| 946 | ‡a b ‡9 1 | ||
| 996 | ‡2 LC|no 93008158 | ||
| 996 | ‡2 PTBNP|187975 | ||
| 996 | ‡2 LNB|LNC10-000174283 | ||
| 996 | ‡2 LC|n 2022250049 | ||
| 996 | ‡2 ISNI|0000000070716857 | ||
| 996 | ‡2 SUDOC|244809402 | ||
| 996 | ‡2 DNB|1176548913 | ||
| 996 | ‡2 LC|nr2001046416 | ||
| 996 | ‡2 PTBNP|1860612 | ||
| 996 | ‡2 ISNI|0000000068195490 | ||
| 996 | ‡2 KRNLK|KAC202255631 | ||
| 996 | ‡2 ISNI|000000007061878X | ||
| 996 | ‡2 ISNI|000000007796145X | ||
| 996 | ‡2 DNB|1045799211 | ||
| 996 | ‡2 DNB|1102937215 | ||
| 996 | ‡2 PTBNP|70714 | ||
| 996 | ‡2 ISNI|0000000031098902 | ||
| 996 | ‡2 PTBNP|1403357 | ||
| 996 | ‡2 BNF|12082312 | ||
| 996 | ‡2 ISNI|0000000069589328 | ||
| 996 | ‡2 PTBNP|99940 | ||
| 996 | ‡2 ISNI|0000000056770590 | ||
| 996 | ‡2 PTBNP|1551551 | ||
| 996 | ‡2 B2Q|0000675691 | ||
| 996 | ‡2 ISNI|0000000039474378 | ||
| 996 | ‡2 PTBNP|280672 | ||
| 996 | ‡2 ISNI|0000000070333063 | ||
| 996 | ‡2 ISNI|0000000069818901 | ||
| 996 | ‡2 BLBNB|000353289 | ||
| 996 | ‡2 ISNI|0000000479769524 | ||
| 996 | ‡2 BNCHL|10000000000000000166636 | ||
| 996 | ‡2 ISNI|0000000031413191 | ||
| 996 | ‡2 ISNI|0000000373474015 | ||
| 996 | ‡2 LC|n 88232713 | ||
| 996 | ‡2 LC|n 88175297 | ||
| 996 | ‡2 NUKAT|nx2023659192 | ||
| 996 | ‡2 SUDOC|164939806 | ||
| 996 | ‡2 ISNI|0000000068116158 | ||
| 996 | ‡2 RERO|A003831958 | ||
| 996 | ‡2 RERO|A003831959 | ||
| 996 | ‡2 ISNI|0000000067821824 | ||
| 996 | ‡2 LC|n 2023250793 | ||
| 996 | ‡2 DNB|11650384X | ||
| 996 | ‡2 LC|no2011048254 | ||
| 996 | ‡2 LC|no 98041626 | ||
| 996 | ‡2 BLBNB|000587544 | ||
| 996 | ‡2 BLBNB|001574602 | ||
| 996 | ‡2 ISNI|0000000069287709 | ||
| 996 | ‡2 NII|DA14940900 | ||
| 996 | ‡2 SUDOC|141907886 | ||
| 996 | ‡2 BLBNB|000463566 | ||
| 996 | ‡2 ISNI|0000000370170761 | ||
| 996 | ‡2 PTBNP|1284932 | ||
| 996 | ‡2 PTBNP|80677 | ||
| 996 | ‡2 LC|no2011063584 | ||
| 996 | ‡2 SUDOC|115309055 | ||
| 996 | ‡2 ISNI|0000000073093587 | ||
| 996 | ‡2 PTBNP|373364 | ||
| 996 | ‡2 ISNI|0000000428095128 | ||
| 996 | ‡2 PTBNP|216699 | ||
| 996 | ‡2 PTBNP|1442240 | ||
| 996 | ‡2 SUDOC|274078821 | ||
| 996 | ‡2 ISNI|0000000109291965 | ||
| 996 | ‡2 PTBNP|1740286 | ||
| 996 | ‡2 PTBNP|1846166 | ||
| 996 | ‡2 ISNI|0000000069612145 | ||
| 996 | ‡2 BLBNB|000173090 | ||
| 996 | ‡2 NUKAT|n 01028855 | ||
| 996 | ‡2 ISNI|0000000428211483 | ||
| 996 | ‡2 LC|no 94009797 | ||
| 996 | ‡2 PTBNP|1489524 | ||
| 996 | ‡2 J9U|987007406170405171 | ||
| 996 | ‡2 PTBNP|226590 | ||
| 996 | ‡2 LC|nr 00017030 | ||
| 996 | ‡2 DNB|1056232781 | ||
| 996 | ‡2 PTBNP|24997 | ||
| 996 | ‡2 BLBNB|000500594 | ||
| 996 | ‡2 DNB|101974507X | ||
| 996 | ‡2 PTBNP|1826140 | ||
| 996 | ‡2 PTBNP|284591 | ||
| 996 | ‡2 BLBNB|000497858 | ||
| 996 | ‡2 DNB|1035690764 | ||
| 996 | ‡2 PTBNP|172454 | ||
| 996 | ‡2 PTBNP|1384157 | ||
| 996 | ‡2 PTBNP|964620 | ||
| 996 | ‡2 SUDOC|250945428 | ||
| 996 | ‡2 LC|n 2018022981 | ||
| 996 | ‡2 NII|DA17669880 | ||
| 996 | ‡2 DNB|1037578864 | ||
| 996 | ‡2 LC|n 2013049962 | ||
| 996 | ‡2 ISNI|0000000067658596 | ||
| 996 | ‡2 PLWABN|9813256271005606 | ||
| 996 | ‡2 ISNI|0000000068092205 | ||
| 996 | ‡2 BLBNB|000943694 | ||
| 996 | ‡2 ISNI|0000000428134430 | ||
| 996 | ‡2 BNE|XX935424 | ||
| 996 | ‡2 NTA|146478916 | ||
| 996 | ‡2 PTBNP|954668 | ||
| 996 | ‡2 DNB|1333274327 | ||
| 996 | ‡2 ISNI|0000000370867999 | ||
| 996 | ‡2 PTBNP|1909751 | ||
| 996 | ‡2 LC|no 93038372 | ||
| 996 | ‡2 LC|n 2001910045 | ||
| 996 | ‡2 CAOONL|ncf11368317 | ||
| 996 | ‡2 LC|n 80031299 | ||
| 996 | ‡2 ISNI|0000000069492868 | ||
| 996 | ‡2 BLBNB|000231782 | ||
| 996 | ‡2 SUDOC|125430868 | ||
| 996 | ‡2 DNB|1064169635 | ||
| 996 | ‡2 NDL|00431503 | ||
| 996 | ‡2 PTBNP|278693 | ||
| 996 | ‡2 PTBNP|1888929 | ||
| 996 | ‡2 ISNI|000000003934002X | ||
| 996 | ‡2 LC|n 2011045514 | ||
| 996 | ‡2 PTBNP|1635140 | ||
| 996 | ‡2 NTA|288254600 | ||
| 996 | ‡2 ISNI|0000000070819792 | ||
| 996 | ‡2 ISNI|0000000070200025 | ||
| 996 | ‡2 DNB|170750132 | ||
| 996 | ‡2 ISNI|0000000069314789 | ||
| 996 | ‡2 BLBNB|001491861 | ||
| 996 | ‡2 LC|n 2003101992 | ||
| 996 | ‡2 ISNI|0000000032595353 | ||
| 996 | ‡2 ISNI|0000000117803668 | ||
| 996 | ‡2 PTBNP|75429 | ||
| 996 | ‡2 DNB|1133593895 | ||
| 996 | ‡2 ISNI|0000000070428118 | ||
| 996 | ‡2 ISNI|0000000068389930 | ||
| 996 | ‡2 DNB|1100395849 | ||
| 996 | ‡2 SUDOC|259428000 | ||
| 996 | ‡2 ISNI|0000000373637371 | ||
| 996 | ‡2 DNB|133492907 | ||
| 996 | ‡2 RERO|A026187019 | ||
| 996 | ‡2 NUKAT|n 2018149676 | ||
| 996 | ‡2 PTBNP|1643165 | ||
| 996 | ‡2 LC|no2023037913 | ||
| 996 | ‡2 BNF|16933508 | ||
| 996 | ‡2 ISNI|000000007072403X | ||
| 996 | ‡2 BLBNB|000253055 | ||
| 996 | ‡2 ISNI|000000006687617X | ||
| 996 | ‡2 SUDOC|142731919 | ||
| 996 | ‡2 PTBNP|1757455 | ||
| 996 | ‡2 PTBNP|1746618 | ||
| 996 | ‡2 ISNI|0000000070912575 | ||
| 996 | ‡2 BLBNB|000335711 | ||
| 996 | ‡2 BLBNB|000423353 | ||
| 996 | ‡2 ISNI|0000000078208291 | ||
| 996 | ‡2 DNB|1165080761 | ||
| 996 | ‡2 PTBNP|1837208 | ||
| 996 | ‡2 LC|n 2022250707 | ||
| 996 | ‡2 BLBNB|000431365 | ||
| 996 | ‡2 NUKAT|n 2002040717 | ||
| 996 | ‡2 BLBNB|000604178 | ||
| 996 | ‡2 PTBNP|971498 | ||
| 996 | ‡2 J9U|987007425852905171 | ||
| 996 | ‡2 NLA|000035740652 | ||
| 996 | ‡2 PTBNP|1674262 | ||
| 996 | ‡2 ISNI|0000000121266914 | ||
| 996 | ‡2 ISNI|0000000493453243 | ||
| 996 | ‡2 ISNI|0000000014796442 | ||
| 996 | ‡2 DNB|1200438027 | ||
| 996 | ‡2 LC|n 99038855 | ||
| 996 | ‡2 PLWABN|9810704840405606 | ||
| 996 | ‡2 SUDOC|256096465 | ||
| 996 | ‡2 PTBNP|128024 | ||
| 996 | ‡2 PTBNP|826598 | ||
| 996 | ‡2 ISNI|0000000069628921 | ||
| 996 | ‡2 PTBNP|37310 | ||
| 996 | ‡2 LC|n 85136082 | ||
| 996 | ‡2 DNB|1067952934 | ||
| 996 | ‡2 SUDOC|255418841 | ||
| 996 | ‡2 LC|no2002050522 | ||
| 996 | ‡2 ISNI|0000000069488391 | ||
| 996 | ‡2 BLBNB|000517567 | ||
| 996 | ‡2 PTBNP|1725770 | ||
| 996 | ‡2 NKC|ctu2015859120 | ||
| 996 | ‡2 ISNI|0000000060932425 | ||
| 996 | ‡2 PTBNP|389521 | ||
| 996 | ‡2 ISNI|000000011605727X | ||
| 996 | ‡2 NTA|069788952 | ||
| 996 | ‡2 BLBNB|000353292 | ||
| 996 | ‡2 BLBNB|000353290 | ||
| 996 | ‡2 LC|no2017076916 | ||
| 996 | ‡2 BLBNB|000353294 | ||
| 996 | ‡2 LC|n 2013008054 | ||
| 996 | ‡2 BLBNB|000353298 | ||
| 996 | ‡2 NKC|xx0223280 | ||
| 996 | ‡2 ISNI|0000000053999541 | ||
| 996 | ‡2 J9U|987007271563205171 | ||
| 996 | ‡2 ISNI|000000006981824X | ||
| 996 | ‡2 PTBNP|56490 | ||
| 996 | ‡2 DNB|1074947371 | ||
| 996 | ‡2 ISNI|0000000069926021 | ||
| 996 | ‡2 LC|n 96084785 | ||
| 996 | ‡2 PTBNP|245948 | ||
| 996 | ‡2 PLWABN|9810665281905606 | ||
| 996 | ‡2 PTBNP|1720631 | ||
| 996 | ‡2 ISNI|0000000069120511 | ||
| 996 | ‡2 DNB|1280180005 | ||
| 996 | ‡2 BLBNB|001544518 | ||
| 996 | ‡2 PTBNP|115398 | ||
| 996 | ‡2 BLBNB|000516107 | ||
| 996 | ‡2 DNB|1280181575 | ||
| 996 | ‡2 LC|no2006057233 | ||
| 996 | ‡2 JPG|500261106 | ||
| 996 | ‡2 PTBNP|1395668 | ||
| 996 | ‡2 ISNI|0000000066685998 | ||
| 996 | ‡2 ISNI|0000000002365776 | ||
| 996 | ‡2 ISNI|0000000044995805 | ||
| 996 | ‡2 BLBNB|000575148 | ||
| 996 | ‡2 PLWABN|9814001130705606 | ||
| 996 | ‡2 LC|no2024053779 | ||
| 996 | ‡2 SELIBR|283324 | ||
| 996 | ‡2 DNB|174342357 | ||
| 996 | ‡2 PTBNP|107065 | ||
| 996 | ‡2 BNE|XX5369968 | ||
| 996 | ‡2 J9U|987007417518705171 | ||
| 996 | ‡2 ISNI|0000000066311398 | ||
| 996 | ‡2 BLBNB|001423530 | ||
| 996 | ‡2 LC|n 2016026633 | ||
| 996 | ‡2 LC|n 92013085 | ||
| 996 | ‡2 ISNI|0000000069193753 | ||
| 996 | ‡2 LC|n 2023252688 | ||
| 996 | ‡2 ISNI|0000000357053499 | ||
| 996 | ‡2 DNB|139549404 | ||
| 996 | ‡2 LC|no2019006324 | ||
| 996 | ‡2 PTBNP|1289470 | ||
| 996 | ‡2 ISNI|0000000409036077 | ||
| 996 | ‡2 BNCHL|10000000000000000050865 | ||
| 996 | ‡2 PTBNP|1017593 | ||
| 996 | ‡2 ISNI|0000000046652179 | ||
| 996 | ‡2 BNF|17776075 | ||
| 996 | ‡2 ISNI|0000000080551929 | ||
| 996 | ‡2 NII|DA14955941 | ||
| 996 | ‡2 SUDOC|111011205 | ||
| 996 | ‡2 LC|n 2007207534 | ||
| 996 | ‡2 PTBNP|116514 | ||
| 996 | ‡2 PTBNP|238283 | ||
| 996 | ‡2 DNB|1015902154 | ||
| 996 | ‡2 ISNI|0000000070923485 | ||
| 996 | ‡2 BLBNB|000174045 | ||
| 996 | ‡2 NTA|191714429 | ||
| 996 | ‡2 PTBNP|199445 | ||
| 996 | ‡2 PTBNP|157662 | ||
| 996 | ‡2 ISNI|000000006972012X | ||
| 996 | ‡2 PTBNP|266770 | ||
| 996 | ‡2 LIH|LNB:BR_c__v_;=B9 | ||
| 996 | ‡2 PTBNP|45179 | ||
| 996 | ‡2 PTBNP|147752 | ||
| 996 | ‡2 PTBNP|204457 | ||
| 997 | ‡a 0 0 lived 0 0 ‡9 1 |
