Search
| Leader | 00000nz a2200037n 45 0 | ||
|---|---|---|---|
| 001 | WKP|Q79619422 (VIAF cluster) (Authority/Source Record) | ||
| 003 | WKP | ||
| 005 | 20241020233203.0 | ||
| 008 | 241020nneanz||abbn n and d | ||
| 035 | ‡a (WKP)Q79619422 | ||
| 024 | ‡a 0000-0001-8615-0226 ‡2 orcid | ||
| 024 | ‡a 8576355700 ‡2 scopus | ||
| 035 | ‡a (OCoLC)Q79619422 | ||
| 100 | 0 | ‡a Maria Luisa Martinez-Fernandez ‡c researcher ‡9 en | |
| 375 | ‡a 2 ‡2 iso5218 | ||
| 400 | 0 | ‡a M L Martínez-Fernández ‡c wetenschapper ‡9 nl | |
| 670 | ‡a Author's A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome | ||
| 670 | ‡a Author's A highly specific coding system for structural chromosomal alterations | ||
| 670 | ‡a Author's A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man. | ||
| 670 | ‡a Author's A small and active ring X chromosome in a female with features of Kabuki syndrome | ||
| 670 | ‡a Author's Be careful with familial unbalanced chromosome abnormalities! | ||
| 670 | ‡a Author's Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. | ||
| 670 | ‡a Author's Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date | ||
| 670 | ‡a Author's Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient | ||
| 670 | ‡a Author's Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome. | ||
| 670 | ‡a Author's Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B | ||
| 670 | ‡a Author's Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation. | ||
| 670 | ‡a Author's [Miller-Dieker syndrome] | ||
| 670 | ‡a Author's Oral-facial-digital syndrome type II: clinical case and differential diagnosis | ||
| 670 | ‡a Author's Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review | ||
| 670 | ‡a Author's Subtelomeric deletion of 12p: Description of a third case and review | ||
| 670 | ‡a Author's The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history | ||
| 670 | ‡a Author's The new Wolf-Hirschhorn syndrome critical region | ||
| 670 | ‡a Author's The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. | ||
| 670 | ‡a Author's Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis | ||
| 909 | ‡a (orcid) 0000000186150226 ‡9 1 | ||
| 909 | ‡a (scopus) 8576355700 ‡9 1 | ||
| 919 | ‡a 284mbdeletionat21q2211inapatientclinicallydiagnosedwithmardenwalkersyndrome ‡A A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome ‡9 1 | ||
| 919 | ‡a highlyspecificcodingsystemforstructuralchromosomalalterations ‡A A highly specific coding system for structural chromosomal alterations ‡9 1 | ||
| 919 | ‡a newsmallsupernumerarymarkerchromosomegeneratingmosaicpuretrisomy16q111q121inahealthyman ‡A A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man. ‡9 1 | ||
| 919 | ‡a smallandactivering10chromosomeinafemalewithfeaturesofkabukisyndrome ‡A A small and active ring X chromosome in a female with features of Kabuki syndrome ‡9 1 | ||
| 919 | ‡a becarefulwithfamilialunbalancedchromosomeabnormalities ‡A Be careful with familial unbalanced chromosome abnormalities! ‡9 1 | ||
| 919 | ‡a characterizationofa8q2111microdeletionsyndromeassociatedwithintellectualdisabilityandarecognizablephenotype ‡A Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. ‡9 1 | ||
| 919 | ‡a delineationoftheclinicallyrecognizable17q22contiguousgenedeletionsyndromeinapatientcarryingthesmallestmicrodeletionknowntodate ‡A Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date ‡9 1 | ||
| 919 | ‡a dicentricinvertedduplicationofentire4parmwithnoapparentdeletionandinternalplacingofthettagggnsequencedescriptionofthe1patient ‡A Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient ‡9 1 | ||
| 919 | ‡a haploinsufficiencyofbmp4genemaybetheunderlyingcauseoffriassyndrome ‡A Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome. ‡9 1 | ||
| 919 | ‡a heterozygouspathogenicvariantsingli1areacommonfindinginisolatedpostaxialpolydactylyab ‡A Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B ‡9 1 | ||
| 919 | ‡a millerdiekersyndrome ‡A [Miller-Dieker syndrome] ‡9 1 | ||
| 919 | ‡a oralfacialdigitalsyndrometype2clinicalcaseanddifferentialdiagnosis ‡A Oral-facial-digital syndrome type II: clinical case and differential diagnosis ‡9 1 | ||
| 919 | ‡a smallsupernumerarychromosomemarkergeneratingcompleteandpuretrisomy18pcharacterizedbymolecularcytogenetictechniquesandreview ‡A Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review ‡9 1 | ||
| 919 | ‡a subtelomericdeletionof12pdescriptionofa3caseandreview ‡A Subtelomeric deletion of 12p: Description of a third case and review ‡9 1 | ||
| 919 | ‡a newwolfhirschhornsyndromecriticalregion ‡A The new Wolf-Hirschhorn syndrome critical region ‡9 1 | ||
| 919 | ‡a newwolfhirschhornsyndromecriticalregionwhscr2adescriptionofa2case ‡A The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. ‡9 1 | ||
| 919 | ‡a trisomy13and18prevalenceandmortalityamultiregistrypopulationbasedanalysis ‡A Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis ‡9 1 | ||
| 919 | ‡a interstitialdeletion14q223q232genotypephenotypecorrelation ‡A Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation. ‡9 1 | ||
| 919 | ‡a 14peuchromaticvariantinahealthycarrierhavinganunusualreproductivehistory ‡A The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history ‡9 1 | ||
| 946 | ‡a a ‡9 1 | ||
| 996 | ‡2 BNE|XX836467 | ||
| 996 | ‡2 ISNI|0000000054792702 | ||
| 996 | ‡2 BNE|XX1047617 | ||
| 996 | ‡2 LC|no2006054015 | ||
| 996 | ‡2 BNF|13480936 | ||
| 996 | ‡2 BNE|XX1677721 | ||
| 996 | ‡2 LC|no2022109724 | ||
| 996 | ‡2 ISNI|0000000066370427 | ||
| 996 | ‡2 LC|n 85092926 | ||
| 996 | ‡2 ISNI|0000000376558572 | ||
| 996 | ‡2 NSK|000554166 | ||
| 996 | ‡2 BNF|15076029 | ||
| 996 | ‡2 NSK|000395628 | ||
| 996 | ‡2 RERO|A011607940 | ||
| 996 | ‡2 NKC|jx20100601003 | ||
| 996 | ‡2 LC|n 78003974 | ||
| 996 | ‡2 BNE|XX875192 | ||
| 996 | ‡2 DNB|113668798X | ||
| 996 | ‡2 DNB|171181565 | ||
| 996 | ‡2 LC|n 96102755 | ||
| 996 | ‡2 ISNI|0000000059466156 | ||
| 996 | ‡2 BNC|981060035530306706 | ||
| 996 | ‡2 NSK|000735954 | ||
| 996 | ‡2 DNB|1207297534 | ||
| 996 | ‡2 ISNI|000000010934502X | ||
| 996 | ‡2 ARBABN|000041624 | ||
| 996 | ‡2 LC|n 88259165 | ||
| 996 | ‡2 DNB|1146816308 | ||
| 996 | ‡2 LC|nr2004003042 | ||
| 996 | ‡2 RERO|A003238723 | ||
| 996 | ‡2 SUDOC|098993275 | ||
| 996 | ‡2 ISNI|0000000035147134 | ||
| 996 | ‡2 DNB|1022468545 | ||
| 996 | ‡2 BNE|XX943432 | ||
| 996 | ‡2 DNB|1249159393 | ||
| 996 | ‡2 BNC|981058512656606706 | ||
| 996 | ‡2 BNE|XX1654563 | ||
| 996 | ‡2 DNB|1057436461 | ||
| 996 | ‡2 BNE|XX1015205 | ||
| 996 | ‡2 BIBSYS|90125911 | ||
| 996 | ‡2 BNE|XX945641 | ||
| 996 | ‡2 DNB|1157404960 | ||
| 996 | ‡2 RERO|A023053534 | ||
| 996 | ‡2 SUDOC|026648989 | ||
| 996 | ‡2 ISNI|0000000452834605 | ||
| 996 | ‡2 SUDOC|142305952 | ||
| 996 | ‡2 BNE|XX5407464 | ||
| 996 | ‡2 SUDOC|10794880X | ||
| 996 | ‡2 J9U|987007427568805171 | ||
| 996 | ‡2 BNC|981058525877906706 | ||
| 996 | ‡2 ISNI|0000000382309353 | ||
| 996 | ‡2 BNE|XX1223164 | ||
| 996 | ‡2 DNB|1199401706 | ||
| 996 | ‡2 ISNI|0000000068194631 | ||
| 996 | ‡2 LC|n 98011248 | ||
| 996 | ‡2 ISNI|0000000079581063 | ||
| 996 | ‡2 ISNI|0000000066387026 | ||
| 996 | ‡2 BNC|981060973474906706 | ||
| 996 | ‡2 ISNI|0000000061079526 | ||
| 996 | ‡2 ISNI|0000000116084147 | ||
| 996 | ‡2 LNB|LNC10-000139633 | ||
| 996 | ‡2 ISNI|0000000083791303 | ||
| 996 | ‡2 BNC|981058519559806706 | ||
| 996 | ‡2 CAOONL|ncf11920189 | ||
| 996 | ‡2 ISNI|0000000059648769 | ||
| 996 | ‡2 LC|n 2014028192 | ||
| 996 | ‡2 RERO|A003238896 | ||
| 996 | ‡2 LC|no2013109154 | ||
| 996 | ‡2 SUDOC|18229577X | ||
| 996 | ‡2 J9U|987007370884105171 | ||
| 996 | ‡2 DNB|1122699824 | ||
| 996 | ‡2 BNC|981058508346906706 | ||
| 996 | ‡2 BNE|XX1168648 | ||
| 996 | ‡2 DNB|1253562083 | ||
| 996 | ‡2 DNB|1056289228 | ||
| 996 | ‡2 BNC|981061106464206706 | ||
| 996 | ‡2 BNF|18029988 | ||
| 996 | ‡2 LC|n 2007080948 | ||
| 996 | ‡2 LC|n 99045240 | ||
| 996 | ‡2 J9U|987007265548305171 | ||
| 996 | ‡2 LC|n 2001008289 | ||
| 996 | ‡2 ISNI|0000000025019075 | ||
| 996 | ‡2 SELIBR|186795 | ||
| 996 | ‡2 BNC|981058516855506706 | ||
| 996 | ‡2 BNC|981058510545506706 | ||
| 996 | ‡2 SUDOC|22541970X | ||
| 996 | ‡2 ISNI|0000000005287697 | ||
| 996 | ‡2 BNE|XX1789100 | ||
| 996 | ‡2 SUDOC|15854868X | ||
| 996 | ‡2 PTBNP|1254360 | ||
| 996 | ‡2 BNE|XX860248 | ||
| 996 | ‡2 BNE|XX860249 | ||
| 996 | ‡2 SUDOC|27318072X | ||
| 996 | ‡2 SUDOC|258356642 | ||
| 996 | ‡2 PTBNP|212991 | ||
| 996 | ‡2 BNC|981058512823806706 | ||
| 996 | ‡2 NKC|hka2009498660 | ||
| 996 | ‡2 J9U|987007452833505171 | ||
| 996 | ‡2 NTA|202147517 | ||
| 996 | ‡2 BNE|XX1172675 | ||
| 996 | ‡2 BNF|16275259 | ||
| 996 | ‡2 DNB|1314097415 | ||
| 996 | ‡2 SUDOC|085440469 | ||
| 996 | ‡2 BNE|XX1726404 | ||
| 996 | ‡2 BNC|981058519140806706 | ||
| 996 | ‡2 ISNI|0000000453823609 | ||
| 996 | ‡2 RERO|A027313996 | ||
| 996 | ‡2 BNF|15055861 | ||
| 996 | ‡2 BLBNB|000215478 | ||
| 996 | ‡2 BNE|XX1030509 | ||
| 996 | ‡2 SUDOC|06133359X | ||
| 996 | ‡2 BNE|XX1224013 | ||
| 996 | ‡2 RERO|A023389734 | ||
| 996 | ‡2 BAV|495_82635 | ||
| 996 | ‡2 BNE|XX1371940 | ||
| 996 | ‡2 BNE|XX1591831 | ||
| 996 | ‡2 BNF|14479470 | ||
| 996 | ‡2 SUDOC|031718698 | ||
| 996 | ‡2 BNE|XX5471875 | ||
| 996 | ‡2 BNE|XX921053 | ||
| 996 | ‡2 BNE|XX827819 | ||
| 996 | ‡2 DNB|1057263982 | ||
| 996 | ‡2 ISNI|0000000118233687 | ||
| 996 | ‡2 BNE|XX898103 | ||
| 996 | ‡2 BNE|XX928655 | ||
| 996 | ‡2 BNE|XX4578368 | ||
| 996 | ‡2 SUDOC|076754715 | ||
| 996 | ‡2 BNE|XX6113534 | ||
| 996 | ‡2 LC|no2008053398 | ||
| 996 | ‡2 SUDOC|181999080 | ||
| 996 | ‡2 LC|n 84018874 | ||
| 996 | ‡2 BNE|XX5460169 | ||
| 996 | ‡2 SUDOC|03132813X | ||
| 996 | ‡2 BNF|17020154 | ||
| 996 | ‡2 ISNI|0000000078041559 | ||
| 996 | ‡2 BNC|981058511078706706 | ||
| 996 | ‡2 BNE|XX5458146 | ||
| 996 | ‡2 BNE|XX4900121 | ||
| 996 | ‡2 BNE|XX1432003 | ||
| 996 | ‡2 ISNI|0000000059575926 | ||
| 996 | ‡2 DNB|1089257082 | ||
| 996 | ‡2 SUDOC|066896088 | ||
| 996 | ‡2 ISNI|0000000384476446 | ||
| 996 | ‡2 LC|no2017089258 | ||
| 996 | ‡2 BNE|XX4997367 | ||
| 996 | ‡2 ISNI|0000000031891927 | ||
| 996 | ‡2 ISNI|0000000378102325 | ||
| 996 | ‡2 ISNI|0000000060396116 | ||
| 996 | ‡2 BNE|XX5570828 | ||
| 996 | ‡2 BNCHL|10000000000000000275186 | ||
| 996 | ‡2 NUKAT|n 2018178423 | ||
| 996 | ‡2 RERO|A005776160 | ||
| 996 | ‡2 BNE|XX1044195 | ||
| 996 | ‡2 LC|n 2001003077 | ||
| 996 | ‡2 DNB|1032768312 | ||
| 996 | ‡2 SUDOC|197774369 | ||
| 996 | ‡2 DNB|170112268 | ||
| 996 | ‡2 BNE|XX1537060 | ||
| 996 | ‡2 RERO|A003238691 | ||
| 996 | ‡2 BNCHL|10000000000000000054801 | ||
| 996 | ‡2 DNB|1158907001 | ||
| 996 | ‡2 BNE|XX929019 | ||
| 996 | ‡2 DNB|1115190164 | ||
| 996 | ‡2 BNE|XX926931 | ||
| 996 | ‡2 BNE|XX1386605 | ||
| 996 | ‡2 BNE|XX4750489 | ||
| 996 | ‡2 BNF|12322429 | ||
| 996 | ‡2 ISNI|0000000078411097 | ||
| 996 | ‡2 ISNI|0000000066384773 | ||
| 996 | ‡2 J9U|987007431812505171 | ||
| 996 | ‡2 ISNI|0000000071415976 | ||
| 996 | ‡2 ISNI|0000000059544097 | ||
| 996 | ‡2 ISNI|0000000059532790 | ||
| 996 | ‡2 SUDOC|144209322 | ||
| 996 | ‡2 BNC|981058522288006706 | ||
| 996 | ‡2 BNE|XX5140367 | ||
| 996 | ‡2 BNE|XX1184775 | ||
| 996 | ‡2 SUDOC|071366083 | ||
| 996 | ‡2 BNE|XX5095513 | ||
| 996 | ‡2 DNB|115736750X | ||
| 996 | ‡2 LC|n 92016153 | ||
| 996 | ‡2 BNF|15817047 | ||
| 996 | ‡2 LC|no2017145967 | ||
| 996 | ‡2 BIBSYS|10079500 | ||
| 996 | ‡2 SUDOC|152614826 | ||
| 996 | ‡2 LC|n 97032545 | ||
| 996 | ‡2 DNB|1280954345 | ||
| 996 | ‡2 SUDOC|033878013 | ||
| 996 | ‡2 KRNLK|KAC200704978 | ||
| 996 | ‡2 J9U|987007434370605171 | ||
| 996 | ‡2 BNE|XX1708771 | ||
| 996 | ‡2 DNB|1105490424 | ||
| 996 | ‡2 DNB|136138411 | ||
| 996 | ‡2 BNF|16230121 | ||
| 996 | ‡2 BNF|13924420 | ||
| 996 | ‡2 BNE|XX5466180 | ||
| 996 | ‡2 LC|nb 99006583 | ||
| 996 | ‡2 ISNI|0000000453093845 | ||
| 996 | ‡2 BNE|XX1145632 | ||
| 996 | ‡2 BNE|XX882515 | ||
| 996 | ‡2 BNF|14595929 | ||
| 996 | ‡2 BNE|XX943528 | ||
| 996 | ‡2 SUDOC|251529827 | ||
| 996 | ‡2 BNE|XX1252057 | ||
| 996 | ‡2 NTA|126989400 | ||
| 996 | ‡2 SUDOC|035314419 | ||
| 996 | ‡2 LC|n 93079926 | ||
| 996 | ‡2 BNC|981058507722806706 | ||
| 996 | ‡2 BAV|495_99036 | ||
| 996 | ‡2 SUDOC|081086032 | ||
| 996 | ‡2 BNE|XX4971450 | ||
| 996 | ‡2 SUDOC|224581201 | ||
| 996 | ‡2 DNB|1057275875 | ||
| 996 | ‡2 BNF|15021825 | ||
| 996 | ‡2 BNE|XX4891573 | ||
| 996 | ‡2 BNE|XX1745984 | ||
| 996 | ‡2 BNC|981058514312506706 | ||
| 996 | ‡2 RERO|A010948754 | ||
| 996 | ‡2 LC|n 97109520 | ||
| 996 | ‡2 PTBNP|1200440 | ||
| 996 | ‡2 BNE|XX858973 | ||
| 996 | ‡2 BNF|17043356 | ||
| 996 | ‡2 BNC|981060731376306706 | ||
| 996 | ‡2 ISNI|0000000061123363 | ||
| 996 | ‡2 LC|no2019150613 | ||
| 996 | ‡2 LC|no2005058488 | ||
| 996 | ‡2 BLBNB|001021704 | ||
| 996 | ‡2 BNC|981058603095206706 | ||
| 996 | ‡2 DNB|1077214863 | ||
| 996 | ‡2 LC|ns2018001205 | ||
| 996 | ‡2 BNE|XX1000093 | ||
| 996 | ‡2 BNE|XX5739829 | ||
| 996 | ‡2 BNC|981058581321906706 | ||
| 996 | ‡2 BNE|XX6016462 | ||
| 996 | ‡2 SUDOC|193070553 | ||
| 996 | ‡2 ISNI|0000000079696434 | ||
| 996 | ‡2 NTA|19756223X | ||
| 996 | ‡2 LC|ns2018001209 | ||
| 996 | ‡2 BNF|17115115 | ||
| 996 | ‡2 LC|no2013005741 | ||
| 996 | ‡2 BNE|XX858572 | ||
| 996 | ‡2 BNE|XX877161 | ||
| 996 | ‡2 ISNI|0000000069413939 | ||
| 996 | ‡2 ISNI|0000000060262791 | ||
| 996 | ‡2 LC|no2023008335 | ||
| 996 | ‡2 BNC|981058527748006706 | ||
| 996 | ‡2 SUDOC|097680397 | ||
| 996 | ‡2 BNE|XX859178 | ||
| 996 | ‡2 BNE|XX5573135 | ||
| 996 | ‡2 ISNI|000000007777817X | ||
| 997 | ‡a 0 0 lived 0 0 ‡9 1 |
