Search
| Leader | 00000nz a2200037n 45 0 | ||
|---|---|---|---|
| 001 | WKP|Q57156878 (VIAF cluster) (Authority/Source Record) | ||
| 003 | WKP | ||
| 005 | 20241221010720.0 | ||
| 008 | 241221nneanz||abbn n and d | ||
| 035 | ‡a (WKP)Q57156878 | ||
| 024 | ‡a 0000-0002-3917-2323 ‡2 orcid | ||
| 035 | ‡a (OCoLC)Q57156878 | ||
| 100 | 0 | ‡a Ana Gonçalves ‡c researcher (ORCID 0000-0002-3917-2323) ‡9 en | |
| 375 | ‡a 2 ‡2 iso5218 | ||
| 400 | 0 | ‡a Ana Gonçalves ‡c onderzoeker ‡9 nl | |
| 670 | ‡a Author's A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene | ||
| 670 | ‡a Author's Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies. | ||
| 670 | ‡a Author's Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene | ||
| 670 | ‡a Author's LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes | ||
| 670 | ‡a Author's Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity | ||
| 670 | ‡a Author's New massive parallel sequencing approach improves the genetic characterization of congenital myopathies | ||
| 670 | ‡a Author's New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing | ||
| 670 | ‡a Author's New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy | ||
| 670 | ‡a Author's Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy | ||
| 670 | ‡a Author's Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients | ||
| 670 | ‡a Author's RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre. | ||
| 670 | ‡a Author's Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i> | ||
| 670 | ‡a Author's αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum | ||
| 909 | ‡a (orcid) 0000000239172323 ‡9 1 | ||
| 919 | ‡a αiibβ3variantsin10familieswithautosomaldominantmacrothrombocytopeniaexpandingthemutationalandclinicalspectrum ‡A αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum ‡9 1 | ||
| 919 | ‡a ushersyndromeandnebulinassociatedmyopathyinasinglepatientduetovariantsin1myo7a1and1neb1 ‡A Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i> ‡9 1 | ||
| 919 | ‡a ryr1relatedmyopathiesclinicalhistopathologicandgeneticheterogeneityamong17patientsfromaportuguesetertiarycentre ‡A RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre. ‡9 1 | ||
| 919 | ‡a reviewinglargelama2deletionsandduplicationsincongenitalmusculardystrophypatients ‡A Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients ‡9 1 | ||
| 919 | ‡a novelsynonymoussubstitutioninpomgnt1promotesexonskippinginapatientwithcongenitalmusculardystrophy ‡A Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy ‡9 1 | ||
| 919 | ‡a newvariantschallengesandpitfallsindmdgenotypingimplicationsindiagnosisprognosisandtherapy ‡A New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy ‡9 1 | ||
| 919 | ‡a newsplicingmutationinthecholinekinasebetachkbgenecausingamusculardystrophydetectedbywholeexomesequencing ‡A New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing ‡9 1 | ||
| 919 | ‡a newmassiveparallelsequencingapproachimprovesthegeneticcharacterizationofcongenitalmyopathies ‡A New massive parallel sequencing approach improves the genetic characterization of congenital myopathies ‡9 1 | ||
| 919 | ‡a missensevariantsintaf1anddevelopmentalphenotypeschallengesofdeterminingpathogenicity ‡A Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity ‡9 1 | ||
| 919 | ‡a lama2genemutationupdatetowardamorecomprehensivepictureofthelamininα2variomeanditsrelatedphenotypes ‡A LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes ‡9 1 | ||
| 919 | ‡a exonizationofanintronicline1elementcausingbeckermusculardystrophyasanovelmutationalmechanismindystrophingene ‡A Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene ‡9 1 | ||
| 919 | ‡a classicalfragile10phenotypeinafemaleinfantdisclosedbycomprehensivegenomicstudies ‡A Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies. ‡9 1 | ||
| 919 | ‡a portuguesecaseoffukuyamacongenitalmusculardystrophycausedbyamultiexonicduplicationinthefukutingene ‡A A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene ‡9 1 | ||
| 946 | ‡a a ‡9 1 | ||
| 996 | ‡2 PTBNP|1405748 | ||
| 996 | ‡2 PTBNP|1381372 | ||
| 996 | ‡2 PTBNP|201934 | ||
| 996 | ‡2 NUKAT|n 2015173983 | ||
| 996 | ‡2 PTBNP|1438860 | ||
| 996 | ‡2 SUDOC|18242863X | ||
| 996 | ‡2 BLBNB|000214950 | ||
| 996 | ‡2 NUKAT|n 2017036461 | ||
| 996 | ‡2 ISNI|000000005204214X | ||
| 996 | ‡2 PTBNP|1513211 | ||
| 996 | ‡2 ISNI|0000000068778960 | ||
| 996 | ‡2 SUDOC|176610596 | ||
| 996 | ‡2 PTBNP|1927896 | ||
| 996 | ‡2 PLWABN|9813172891305606 | ||
| 996 | ‡2 PTBNP|1324725 | ||
| 996 | ‡2 LC|no 97000536 | ||
| 996 | ‡2 DNB|1074710053 | ||
| 996 | ‡2 ISNI|0000000078090422 | ||
| 996 | ‡2 PTBNP|817127 | ||
| 996 | ‡2 PTBNP|1294783 | ||
| 996 | ‡2 NII|DA17571243 | ||
| 996 | ‡2 ISNI|0000000119097816 | ||
| 996 | ‡2 LC|n 2023185125 | ||
| 996 | ‡2 BLBNB|000385431 | ||
| 996 | ‡2 ISNI|0000000069933539 | ||
| 996 | ‡2 ISNI|0000000072988290 | ||
| 996 | ‡2 BLBNB|001029729 | ||
| 996 | ‡2 PTBNP|1439314 | ||
| 996 | ‡2 ISNI|0000000069224927 | ||
| 996 | ‡2 SUDOC|249423871 | ||
| 996 | ‡2 PTBNP|1437743 | ||
| 996 | ‡2 PTBNP|1398809 | ||
| 996 | ‡2 SUDOC|094691282 | ||
| 996 | ‡2 J9U|987012461877005171 | ||
| 996 | ‡2 PTBNP|1705793 | ||
| 996 | ‡2 BLBNB|000359752 | ||
| 996 | ‡2 BIBSYS|1678650009793 | ||
| 996 | ‡2 BLBNB|000424504 | ||
| 996 | ‡2 PTBNP|1811399 | ||
| 996 | ‡2 DNB|133137961 | ||
| 996 | ‡2 SUDOC|061500402 | ||
| 996 | ‡2 PTBNP|1923857 | ||
| 996 | ‡2 BNF|16275738 | ||
| 996 | ‡2 PTBNP|1468460 | ||
| 996 | ‡2 ISNI|0000000428227266 | ||
| 996 | ‡2 BLBNB|000553480 | ||
| 996 | ‡2 PTBNP|1907790 | ||
| 996 | ‡2 SUDOC|260553980 | ||
| 996 | ‡2 NTA|288355148 | ||
| 996 | ‡2 SUDOC|281379440 | ||
| 996 | ‡2 ISNI|0000000374213976 | ||
| 996 | ‡2 PTBNP|1392850 | ||
| 996 | ‡2 PTBNP|1857609 | ||
| 996 | ‡2 PTBNP|1439652 | ||
| 996 | ‡2 PTBNP|1790283 | ||
| 996 | ‡2 PTBNP|1468496 | ||
| 996 | ‡2 ISNI|0000000070305361 | ||
| 996 | ‡2 RERO|A024378349 | ||
| 996 | ‡2 ISNI|0000000068485543 | ||
| 996 | ‡2 PTBNP|1246064 | ||
| 996 | ‡2 LC|n 2023181484 | ||
| 996 | ‡2 BLBNB|000549451 | ||
| 996 | ‡2 PTBNP|1906026 | ||
| 996 | ‡2 SUDOC|120805723 | ||
| 996 | ‡2 PTBNP|1890065 | ||
| 996 | ‡2 DNB|129124820X | ||
| 996 | ‡2 PTBNP|1023237 | ||
| 996 | ‡2 BLBNB|000549449 | ||
| 996 | ‡2 BIBSYS|1459181432077 | ||
| 996 | ‡2 PTBNP|1370584 | ||
| 996 | ‡2 ISNI|0000000069196364 | ||
| 996 | ‡2 PTBNP|1826598 | ||
| 996 | ‡2 PTBNP|1881700 | ||
| 996 | ‡2 BLBNB|001583742 | ||
| 996 | ‡2 PTBNP|1290639 | ||
| 996 | ‡2 ISNI|0000000070395096 | ||
| 996 | ‡2 ISNI|0000000068273153 | ||
| 996 | ‡2 RERO|A009408906 | ||
| 996 | ‡2 PTBNP|114520 | ||
| 996 | ‡2 LC|no2010202183 | ||
| 996 | ‡2 PTBNP|1485257 | ||
| 996 | ‡2 DNB|117540554X | ||
| 996 | ‡2 PTBNP|222172 | ||
| 996 | ‡2 BLBNB|000985678 | ||
| 996 | ‡2 LC|no2024051002 | ||
| 996 | ‡2 BNC|981058521709906706 | ||
| 996 | ‡2 ISNI|0000000070233185 | ||
| 996 | ‡2 BLBNB|000603813 | ||
| 996 | ‡2 BLBNB|001530372 | ||
| 996 | ‡2 PTBNP|1440630 | ||
| 996 | ‡2 BLBNB|000339336 | ||
| 996 | ‡2 PTBNP|123746 | ||
| 996 | ‡2 PTBNP|1332920 | ||
| 996 | ‡2 ISNI|0000000111111329 | ||
| 996 | ‡2 PTBNP|268100 | ||
| 996 | ‡2 PTBNP|1869270 | ||
| 996 | ‡2 LC|nb2019017756 | ||
| 996 | ‡2 LC|no2009125522 | ||
| 996 | ‡2 LC|n 2012018927 | ||
| 996 | ‡2 PTBNP|1923776 | ||
| 996 | ‡2 PTBNP|1814789 | ||
| 996 | ‡2 ISNI|0000000070308562 | ||
| 996 | ‡2 PTBNP|1042392 | ||
| 996 | ‡2 NTA|314627693 | ||
| 996 | ‡2 BLBNB|000447401 | ||
| 996 | ‡2 PTBNP|1432695 | ||
| 996 | ‡2 BLBNB|000257793 | ||
| 996 | ‡2 PTBNP|1451362 | ||
| 996 | ‡2 SUDOC|251354032 | ||
| 996 | ‡2 BIBSYS|1581514964183 | ||
| 996 | ‡2 PTBNP|1375095 | ||
| 996 | ‡2 PTBNP|1829873 | ||
| 996 | ‡2 ISNI|0000000139605275 | ||
| 996 | ‡2 BLBNB|000290926 | ||
| 996 | ‡2 ISNI|0000000069096945 | ||
| 996 | ‡2 PTBNP|274965 | ||
| 996 | ‡2 BLBNB|000466271 | ||
| 996 | ‡2 PTBNP|1425598 | ||
| 996 | ‡2 ISNI|0000000069720859 | ||
| 996 | ‡2 LC|n 2021250451 | ||
| 996 | ‡2 BNF|15101153 | ||
| 996 | ‡2 BLBNB|000222829 | ||
| 996 | ‡2 PTBNP|1607400 | ||
| 996 | ‡2 PTBNP|1429583 | ||
| 996 | ‡2 BNF|16213024 | ||
| 996 | ‡2 ISNI|0000000073204638 | ||
| 996 | ‡2 ISNI|0000000079883563 | ||
| 996 | ‡2 ISNI|0000000053876349 | ||
| 996 | ‡2 ISNI|0000000070009618 | ||
| 996 | ‡2 ISNI|0000000068489392 | ||
| 996 | ‡2 PTBNP|37007 | ||
| 996 | ‡2 PTBNP|32877 | ||
| 996 | ‡2 ISNI|000000004917626X | ||
| 996 | ‡2 ISNI|0000000068388452 | ||
| 996 | ‡2 PTBNP|1348566 | ||
| 996 | ‡2 PTBNP|1884738 | ||
| 996 | ‡2 PTBNP|988435 | ||
| 996 | ‡2 J9U|987012501098005171 | ||
| 996 | ‡2 ISNI|0000000068594774 | ||
| 996 | ‡2 ISNI|0000000068207009 | ||
| 996 | ‡2 LC|n 2022252457 | ||
| 996 | ‡2 ISNI|0000000069096072 | ||
| 996 | ‡2 PTBNP|1416194 | ||
| 996 | ‡2 LC|no2004053086 | ||
| 996 | ‡2 DNB|142778184 | ||
| 996 | ‡2 BLBNB|001529523 | ||
| 996 | ‡2 PTBNP|1634833 | ||
| 996 | ‡2 PTBNP|1709866 | ||
| 996 | ‡2 PTBNP|1457963 | ||
| 996 | ‡2 BLBNB|000219724 | ||
| 996 | ‡2 BLBNB|000154816 | ||
| 996 | ‡2 CAOONL|ncf10690013 | ||
| 996 | ‡2 NTA|362748489 | ||
| 996 | ‡2 DNB|1149768681 | ||
| 996 | ‡2 ISNI|0000000391971832 | ||
| 996 | ‡2 PTBNP|1368506 | ||
| 996 | ‡2 BLBNB|001573195 | ||
| 996 | ‡2 SUDOC|099040689 | ||
| 996 | ‡2 LC|n 2022253502 | ||
| 996 | ‡2 PTBNP|68398 | ||
| 996 | ‡2 PTBNP|1266797 | ||
| 996 | ‡2 ISNI|0000000367923355 | ||
| 996 | ‡2 ISNI|0000000070978988 | ||
| 996 | ‡2 BLBNB|000441124 | ||
| 996 | ‡2 LC|nb2013012292 | ||
| 996 | ‡2 ISNI|000000042820569X | ||
| 996 | ‡2 LC|nr2003027081 | ||
| 996 | ‡2 ISNI|0000000070010141 | ||
| 996 | ‡2 PTBNP|1704706 | ||
| 996 | ‡2 ISNI|0000000078183303 | ||
| 996 | ‡2 PTBNP|1532017 | ||
| 996 | ‡2 PTBNP|1930193 | ||
| 996 | ‡2 PTBNP|1413057 | ||
| 996 | ‡2 PTBNP|1776714 | ||
| 996 | ‡2 BLBNB|001464335 | ||
| 996 | ‡2 PTBNP|1298571 | ||
| 996 | ‡2 PTBNP|1780419 | ||
| 996 | ‡2 PTBNP|1411741 | ||
| 996 | ‡2 LC|n 2004095115 | ||
| 996 | ‡2 BLBNB|001026372 | ||
| 996 | ‡2 PTBNP|1147388 | ||
| 996 | ‡2 PTBNP|1330494 | ||
| 996 | ‡2 PTBNP|1608139 | ||
| 996 | ‡2 ISNI|0000000068417188 | ||
| 996 | ‡2 ISNI|0000000069193972 | ||
| 996 | ‡2 PTBNP|1440589 | ||
| 996 | ‡2 PTBNP|1587026 | ||
| 996 | ‡2 SUDOC|146690001 | ||
| 996 | ‡2 DBC|87097969980406 | ||
| 996 | ‡2 SUDOC|272389196 | ||
| 996 | ‡2 PTBNP|1447695 | ||
| 996 | ‡2 PTBNP|1446184 | ||
| 996 | ‡2 ISNI|0000000066780725 | ||
| 996 | ‡2 ISNI|0000000069500215 | ||
| 996 | ‡2 ISNI|0000000114101951 | ||
| 996 | ‡2 PTBNP|1452902 | ||
| 996 | ‡2 PTBNP|1401181 | ||
| 996 | ‡2 BLBNB|000457080 | ||
| 996 | ‡2 PTBNP|1341046 | ||
| 996 | ‡2 ISNI|0000000070826693 | ||
| 996 | ‡2 ISNI|0000000497139526 | ||
| 996 | ‡2 LC|n 2021252438 | ||
| 996 | ‡2 LC|n 89183523 | ||
| 996 | ‡2 PTBNP|1483959 | ||
| 996 | ‡2 PTBNP|1396818 | ||
| 996 | ‡2 ISNI|0000000091049969 | ||
| 996 | ‡2 ISNI|0000000069416611 | ||
| 996 | ‡2 PTBNP|1822085 | ||
| 996 | ‡2 ISNI|0000000066599299 | ||
| 996 | ‡2 W2Z|1459181432077 | ||
| 996 | ‡2 SUDOC|14859526X | ||
| 996 | ‡2 DNB|106486564X | ||
| 996 | ‡2 ISNI|0000000070104498 | ||
| 996 | ‡2 ISNI|0000000068983067 | ||
| 996 | ‡2 SUDOC|164513086 | ||
| 996 | ‡2 PTBNP|1694182 | ||
| 996 | ‡2 ISNI|0000000077985996 | ||
| 996 | ‡2 PTBNP|1463583 | ||
| 996 | ‡2 ISNI|0000000112931740 | ||
| 996 | ‡2 BIBSYS|14061953 | ||
| 996 | ‡2 DNB|105635562X | ||
| 996 | ‡2 PTBNP|1291619 | ||
| 996 | ‡2 ISNI|0000000113359221 | ||
| 996 | ‡2 LC|no2006099122 | ||
| 996 | ‡2 NKC|ntk20231205981 | ||
| 996 | ‡2 PTBNP|1750894 | ||
| 996 | ‡2 ISNI|0000000068896625 | ||
| 996 | ‡2 BLBNB|000372741 | ||
| 996 | ‡2 RERO|A017787295 | ||
| 996 | ‡2 DNB|1060660504 | ||
| 996 | ‡2 PTBNP|1394120 | ||
| 996 | ‡2 ISNI|0000000088340034 | ||
| 996 | ‡2 PTBNP|1921106 | ||
| 996 | ‡2 PTBNP|1873889 | ||
| 996 | ‡2 PTBNP|1423976 | ||
| 996 | ‡2 PTBNP|1654653 | ||
| 996 | ‡2 ISNI|0000000033413849 | ||
| 996 | ‡2 ISNI|0000000068716620 | ||
| 996 | ‡2 ISNI|0000000428228330 | ||
| 996 | ‡2 ISNI|0000000111753743 | ||
| 996 | ‡2 PTBNP|944185 | ||
| 996 | ‡2 PTBNP|1048898 | ||
| 996 | ‡2 PTBNP|1645214 | ||
| 996 | ‡2 PTBNP|1676669 | ||
| 996 | ‡2 LC|n 2016025348 | ||
| 996 | ‡2 ISNI|000000037346866X | ||
| 996 | ‡2 PTBNP|1222301 | ||
| 996 | ‡2 BLBNB|000219557 | ||
| 996 | ‡2 PTBNP|1467336 | ||
| 996 | ‡2 PTBNP|1051015 | ||
| 997 | ‡a 0 0 lived 0 0 ‡9 1 |
