Search
| Leader | 00000nz a2200037n 45 0 | ||
|---|---|---|---|
| 001 | WKP|Q56074804 (VIAF cluster) (Authority/Source Record) | ||
| 003 | WKP | ||
| 005 | 20241221010722.0 | ||
| 008 | 241221nneanz||abbn n and d | ||
| 035 | ‡a (WKP)Q56074804 | ||
| 024 | ‡a 0000-0002-3561-1288 ‡2 orcid | ||
| 024 | ‡a 26638335200 ‡2 scopus | ||
| 035 | ‡a (OCoLC)Q56074804 | ||
| 100 | 0 | ‡a Isabel Marques ‡9 ast ‡9 es ‡9 sl | |
| 375 | ‡a 2 ‡2 iso5218 | ||
| 400 | 0 | ‡a Isabel Marques ‡c researcher ORCID: 0000-0002-3561-1288 ‡9 en | |
| 400 | 0 | ‡a Isabel Marques ‡c wetenschapper ‡9 nl | |
| 670 | ‡a Author's Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? | ||
| 670 | ‡a Author's Development and validation of a multiplex-PCR assay for X-linked intellectual disability. | ||
| 670 | ‡a Author's FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes | ||
| 670 | ‡a Author's New findings of Neurospora in Europe and comparisons of diversity in temperate climates on continental scales | ||
| 670 | ‡a Author's Role of the Conserved Cysteine Residues of the 11.5 kDa Subunit in Complex I Catalytic Properties | ||
| 670 | ‡a Author's Supramolecular organization of the respiratory chain in Neurospora crassa mitochondria | ||
| 670 | ‡a Author's The 9.8 kDa subunit of complex I, related to bacterial Na(+)-translocating NADH dehydrogenases, is required for enzyme assembly and function in Neurospora crassa. | ||
| 670 | ‡a Author's Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome | ||
| 670 | ‡a Author's Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach | ||
| 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> | ||
| 909 | ‡a (orcid) 0000000235611288 ‡9 1 | ||
| 909 | ‡a (scopus) 26638335200 ‡9 1 | ||
| 919 | ‡a roleoftheconservedcysteineresiduesofthe115kdasubunitincomplex1catalyticproperties ‡A Role of the Conserved Cysteine Residues of the 11.5 kDa Subunit in Complex I Catalytic Properties ‡9 1 | ||
| 919 | ‡a contractionoffullyexpandedfmr1allelestothenormalrangepredisposinghaplotypeorrareevents ‡A Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? ‡9 1 | ||
| 919 | ‡a developmentandvalidationofamultiplexpcrassayfor10linkedintellectualdisability ‡A Development and validation of a multiplex-PCR assay for X-linked intellectual disability. ‡9 1 | ||
| 919 | ‡a fxtasisrareamongportuguesepatientswithmovementdisordersfmr1premutationsmaybeassociatedwithawiderspectrumofphenotypes ‡A FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes ‡9 1 | ||
| 919 | ‡a newfindingsofneurosporaineuropeandcomparisonsofdiversityintemperateclimatesoncontinentalscales ‡A New findings of Neurospora in Europe and comparisons of diversity in temperate climates on continental scales ‡9 1 | ||
| 919 | ‡a supramolecularorganizationoftherespiratorychaininneurosporacrassamitochondria ‡A Supramolecular organization of the respiratory chain in Neurospora crassa mitochondria ‡9 1 | ||
| 919 | ‡a 98kdasubunitofcomplex1relatedtobacterialna+translocatingnadhdehydrogenasesisrequiredforenzymeassemblyandfunctioninneurosporacrassa ‡A The 9.8 kDa subunit of complex I, related to bacterial Na(+)-translocating NADH dehydrogenases, is required for enzyme assembly and function in Neurospora crassa. ‡9 1 | ||
| 919 | ‡a 2novelpathogenicmid1variantsandgenotypephenotypecorrelationreanalysisin10linkedopitzgbbbsyndrome ‡A Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome ‡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 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 | ||
| 946 | ‡a a ‡9 1 | ||
| 996 | ‡2 ISNI|0000000068420416 | ||
| 996 | ‡2 ISNI|0000000070297605 | ||
| 996 | ‡2 PTBNP|1294464 | ||
| 996 | ‡2 PTBNP|885197 | ||
| 996 | ‡2 PTBNP|267945 | ||
| 996 | ‡2 PTBNP|1703798 | ||
| 996 | ‡2 ISNI|000000011079181X | ||
| 996 | ‡2 PLWABN|9810631490005606 | ||
| 996 | ‡2 PTBNP|1605117 | ||
| 996 | ‡2 PTBNP|1754381 | ||
| 996 | ‡2 SUDOC|127521372 | ||
| 996 | ‡2 PTBNP|194335 | ||
| 996 | ‡2 PTBNP|966340 | ||
| 996 | ‡2 PTBNP|1304480 | ||
| 996 | ‡2 ISNI|0000000053124235 | ||
| 996 | ‡2 BNF|16258004 | ||
| 996 | ‡2 DNB|1236205847 | ||
| 996 | ‡2 PTBNP|1040415 | ||
| 996 | ‡2 PTBNP|1570240 | ||
| 996 | ‡2 BNF|11580008 | ||
| 996 | ‡2 SUDOC|159810876 | ||
| 996 | ‡2 BNF|12417231 | ||
| 996 | ‡2 PTBNP|1341879 | ||
| 996 | ‡2 ISNI|0000000068304802 | ||
| 996 | ‡2 BNF|14495284 | ||
| 996 | ‡2 DNB|1053183909 | ||
| 996 | ‡2 PTBNP|1382708 | ||
| 996 | ‡2 PTBNP|1383313 | ||
| 996 | ‡2 ISNI|0000000514364128 | ||
| 996 | ‡2 ISNI|0000000068082410 | ||
| 996 | ‡2 LC|nr 95034710 | ||
| 996 | ‡2 SUDOC|191194913 | ||
| 996 | ‡2 PTBNP|242783 | ||
| 996 | ‡2 SUDOC|08773902X | ||
| 996 | ‡2 BNE|XX6032430 | ||
| 996 | ‡2 ISNI|0000000428295429 | ||
| 996 | ‡2 BLBNB|000289515 | ||
| 996 | ‡2 LC|n 2010012134 | ||
| 996 | ‡2 PTBNP|974069 | ||
| 996 | ‡2 ISNI|0000000070612783 | ||
| 996 | ‡2 ISNI|0000000069914485 | ||
| 996 | ‡2 PTBNP|1378751 | ||
| 996 | ‡2 ISNI|0000000121489800 | ||
| 996 | ‡2 ISNI|0000000068823223 | ||
| 996 | ‡2 ISNI|0000000070531588 | ||
| 996 | ‡2 PTBNP|1483854 | ||
| 996 | ‡2 PTBNP|1184943 | ||
| 996 | ‡2 PTBNP|1122188 | ||
| 996 | ‡2 PTBNP|1237069 | ||
| 996 | ‡2 SUDOC|13020451X | ||
| 996 | ‡2 ISNI|0000000070414541 | ||
| 996 | ‡2 ISNI|0000000069080126 | ||
| 996 | ‡2 ISNI|0000000070414453 | ||
| 996 | ‡2 ISNI|0000000069696430 | ||
| 996 | ‡2 BNC|981058513847306706 | ||
| 996 | ‡2 DNB|1047965127 | ||
| 996 | ‡2 SUDOC|033291640 | ||
| 996 | ‡2 LC|no2022029930 | ||
| 996 | ‡2 PTBNP|1837479 | ||
| 996 | ‡2 LC|nr 90017153 | ||
| 996 | ‡2 PTBNP|231301 | ||
| 996 | ‡2 LC|n 92034114 | ||
| 996 | ‡2 ISNI|0000000068091376 | ||
| 996 | ‡2 BLBNB|000203680 | ||
| 996 | ‡2 BNE|XX1024338 | ||
| 996 | ‡2 PTBNP|1430146 | ||
| 996 | ‡2 ISNI|0000000079768725 | ||
| 996 | ‡2 NII|DA16297860 | ||
| 996 | ‡2 PTBNP|1299369 | ||
| 996 | ‡2 ISNI|0000000111862069 | ||
| 996 | ‡2 SUDOC|238493202 | ||
| 996 | ‡2 RERO|A003564137 | ||
| 996 | ‡2 BNE|XX1180228 | ||
| 996 | ‡2 LC|n 82135136 | ||
| 997 | ‡a 0 0 lived 0 0 ‡9 1 |
