Search
| Leader | 00000nz a2200037n 45 0 | ||
|---|---|---|---|
| 001 | WKP|Q88223464 (VIAF cluster) (Authority/Source Record) | ||
| 003 | WKP | ||
| 005 | 20241121000101.0 | ||
| 008 | 241121nneanz||abbn n and d | ||
| 035 | ‡a (WKP)Q88223464 | ||
| 024 | ‡a 0000-0001-9144-4210 ‡2 orcid | ||
| 035 | ‡a (OCoLC)Q88223464 | ||
| 100 | 0 | ‡a Jean-Baptiste Rivière ‡c researcher ‡9 en | |
| 400 | 0 | ‡a Jean-Baptiste Rivière ‡c onderzoeker ‡9 nl | |
| 670 | ‡a Author's Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome | ||
| 670 | ‡a Author's Chromosome 11-q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population | ||
| 670 | ‡a Author's De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature | ||
| 670 | ‡a Author's Exome sequencing identifies FUS mutations as a cause of essential tremor | ||
| 670 | ‡a Author's Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians | ||
| 670 | ‡a Author's Genome-wide TDT analysis in French-Canadian families with Tourette syndrome | ||
| 670 | ‡a Author's Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort. | ||
| 670 | ‡a Author's KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. | ||
| 670 | ‡a Author's LINGO1 variants in the French-Canadian population | ||
| 670 | ‡a Author's Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing | ||
| 670 | ‡a Author's Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families | ||
| 670 | ‡a Author's Mutations in DCC cause congenital mirror movements. | ||
| 670 | ‡a Author's Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome | ||
| 670 | ‡a Author's Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group | ||
| 670 | ‡a Author's The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery | ||
| 670 | ‡a Author's The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum | ||
| 670 | ‡a Author's The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation | ||
| 670 | ‡a Author's Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum | ||
| 909 | ‡a (orcid) 0000000191444210 ‡9 1 | ||
| 919 | ‡a genomewidetdtanalysisinfrenchcanadianfamilieswithtourettesyndrome ‡A Genome-wide TDT analysis in French-Canadian families with Tourette syndrome ‡9 1 | ||
| 919 | ‡a geneticassociationstudiesofneurotensingeneandrestlesslegssyndromeinfrenchcanadians ‡A Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians ‡9 1 | ||
| 919 | ‡a exomesequencingidentifiesfusmutationsasacauseofessentialtremor ‡A Exome sequencing identifies FUS mutations as a cause of essential tremor ‡9 1 | ||
| 919 | ‡a novotbr1variantscauseaneurocognitivephenotypewithidandautistictraitsreportof25newindividualsandreviewoftheliterature ‡A De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature ‡9 1 | ||
| 919 | ‡a postzygoticinactivatingmutationsofrhoacauseamosaicneuroectodermalsyndrome ‡A Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome ‡9 1 | ||
| 919 | ‡a reporton3additionalpatientsandgenotypephenotypecorrelationinslc25a22relateddisordersgroup ‡A Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group ‡9 1 | ||
| 919 | ‡a ciliopathyassociatedcplaneproteinsdirectbasalbodyrecruitmentofintraflagellartransportmachinery ‡A The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery ‡9 1 | ||
| 919 | ‡a k150cotransporterkcc3ismutantinasevereperipheralneuropathyassociatedwithagenesisofthecorpuscallosum ‡A The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum ‡9 1 | ||
| 919 | ‡a oralfacialdigitalsyndromegenec2cd3encodesapositiveregulatorofcentrioleelongation ‡A The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation ‡9 1 | ||
| 919 | ‡a transitdefectofpotassiumchloridecotransporter3isamajorpathogenicmechanisminhereditarymotorandsensoryneuropathywithagenesisofthecorpuscallosum ‡A Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum ‡9 1 | ||
| 919 | ‡a moleculardiagnosisofpik3carelatedovergrowthspectrumprosin162patientsandrecommendationsforgenetictesting ‡A Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing ‡9 1 | ||
| 919 | ‡a moleculargeneticstudiesofdmt1on12qinfrenchcanadianrestlesslegssyndromepatientsandfamilies ‡A Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families ‡9 1 | ||
| 919 | ‡a mutationsin700causecongenitalmirrormovements ‡A Mutations in DCC cause congenital mirror movements. ‡9 1 | ||
| 919 | ‡a lingo1variantsinthefrenchcanadianpopulation ‡A LINGO1 variants in the French-Canadian population ‡9 1 | ||
| 919 | ‡a chromosome11q24regionintourettesyndromeassociationandlinkagedisequilibriumstudyinthefrenchcanadianpopulation ‡A Chromosome 11-q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population ‡9 1 | ||
| 919 | ‡a authorcorrectionpostzygoticinactivatingmutationsofrhoacauseamosaicneuroectodermalsyndrome ‡A Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome ‡9 1 | ||
| 919 | ‡a kif1aanaxonaltransporterofsynapticvesiclesismutatedinhereditarysensoryandautonomicneuropathytype2 ‡A KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. ‡9 1 | ||
| 919 | ‡a glucocerebrosidasemutationsinafrenchcanadianparkinsonsdiseasecohort ‡A Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort. ‡9 1 | ||
| 996 | ‡2 ISNI|0000000072445309 | ||
| 996 | ‡2 ISNI|0000000039504557 | ||
| 996 | ‡2 BNF|17895902 | ||
| 996 | ‡2 BNF|12539062 | ||
| 996 | ‡2 DNB|1243973293 | ||
| 996 | ‡2 ISNI|000000049337051X | ||
| 996 | ‡2 ISNI|0000000390291712 | ||
| 996 | ‡2 RERO|A003749910 | ||
| 996 | ‡2 BNF|10634324 | ||
| 996 | ‡2 BNF|12832806 | ||
| 996 | ‡2 NTA|068199953 | ||
| 996 | ‡2 BNF|15717880 | ||
| 996 | ‡2 ISNI|0000000431025569 | ||
| 996 | ‡2 BNF|16984551 | ||
| 996 | ‡2 ISNI|0000000453374647 | ||
| 996 | ‡2 SUDOC|026821192 | ||
| 996 | ‡2 NUKAT|n 01715277 | ||
| 996 | ‡2 BNF|11922119 | ||
| 996 | ‡2 LC|n 82255423 | ||
| 996 | ‡2 NTA|19513611X | ||
| 996 | ‡2 BNE|XX1398815 | ||
| 996 | ‡2 J9U|987007432337705171 | ||
| 996 | ‡2 SUDOC|030927897 | ||
| 996 | ‡2 BNF|16681150 | ||
| 996 | ‡2 SUDOC|08113195X | ||
| 996 | ‡2 SUDOC|070769796 | ||
| 996 | ‡2 ICCU|CFIV051946 | ||
| 996 | ‡2 ISNI|0000000140381977 | ||
| 996 | ‡2 NII|DA05156732 | ||
| 996 | ‡2 SUDOC|123327814 | ||
| 996 | ‡2 NII|DA14619922 | ||
| 996 | ‡2 ISNI|0000000061592266 | ||
| 996 | ‡2 DNB|170283569 | ||
| 996 | ‡2 PLWABN|9810622399105606 | ||
| 996 | ‡2 BNF|17047385 | ||
| 996 | ‡2 DNB|1180082311 | ||
| 996 | ‡2 LC|no2006106474 | ||
| 996 | ‡2 SUDOC|103777474 | ||
| 996 | ‡2 RERO|A014175420 | ||
| 996 | ‡2 RERO|A014175422 | ||
| 996 | ‡2 BNC|981058610432306706 | ||
| 996 | ‡2 RERO|A011130309 | ||
| 996 | ‡2 BNF|13408211 | ||
| 996 | ‡2 BNCHL|10000000000000000015115 | ||
| 996 | ‡2 CAOONL|ncf11179458 | ||
| 996 | ‡2 DNB|104284129 | ||
| 996 | ‡2 NII|DA12682586 | ||
| 996 | ‡2 BNF|14051994 | ||
| 996 | ‡2 ISNI|0000000459619174 | ||
| 996 | ‡2 SUDOC|031105106 | ||
| 996 | ‡2 NKC|xx0224728 | ||
| 996 | ‡2 ISNI|0000000364725687 | ||
| 996 | ‡2 BNF|11886886 | ||
| 996 | ‡2 SUDOC|031528546 | ||
| 996 | ‡2 ISNI|000000002660687X | ||
| 996 | ‡2 SUDOC|156719878 | ||
| 996 | ‡2 BNF|14510071 | ||
| 996 | ‡2 NTA|068292007 | ||
| 996 | ‡2 ISNI|0000000000512285 | ||
| 996 | ‡2 SUDOC|243370717 | ||
| 996 | ‡2 SUDOC|250942542 | ||
| 996 | ‡2 PLWABN|9810533330105606 | ||
| 996 | ‡2 PLWABN|9810589307305606 | ||
| 996 | ‡2 BNE|XX923531 | ||
| 996 | ‡2 DNB|1243898445 | ||
| 996 | ‡2 LC|no2021020713 | ||
| 996 | ‡2 BNF|13741569 | ||
| 996 | ‡2 DNB|113078830X | ||
| 996 | ‡2 CAOONL|ncf10968252 | ||
| 996 | ‡2 CAOONL|ncf10981272 | ||
| 996 | ‡2 LC|n 81144630 | ||
| 996 | ‡2 ISNI|0000000359169989 | ||
| 996 | ‡2 ISNI|0000000013401904 | ||
| 996 | ‡2 ISNI|000000050409315X | ||
| 996 | ‡2 NUKAT|n 2015057443 | ||
| 996 | ‡2 BNF|14132358 | ||
| 996 | ‡2 ISNI|0000000428080321 | ||
| 996 | ‡2 DBC|87097991968924 | ||
| 996 | ‡2 BNF|12183860 | ||
| 996 | ‡2 ISNI|0000000002394702 | ||
| 996 | ‡2 ISNI|0000000001105622 | ||
| 996 | ‡2 DNB|135544068 | ||
| 996 | ‡2 NLA|000035789924 | ||
| 996 | ‡2 J9U|987007344377505171 | ||
| 996 | ‡2 RERO|A008962931 | ||
| 996 | ‡2 ISNI|0000000388380783 | ||
| 996 | ‡2 SUDOC|220245592 | ||
| 996 | ‡2 SUDOC|115372520 | ||
| 996 | ‡2 SUDOC|076402576 | ||
| 996 | ‡2 SUDOC|111137225 | ||
| 996 | ‡2 ISNI|0000000077165998 | ||
| 996 | ‡2 ISNI|0000000083557306 | ||
| 996 | ‡2 BNF|13578167 | ||
| 996 | ‡2 LC|n 87143665 | ||
| 996 | ‡2 SUDOC|026663090 | ||
| 996 | ‡2 RERO|A023578335 | ||
| 996 | ‡2 NTA|074477765 | ||
| 996 | ‡2 ISNI|0000000139848816 | ||
| 996 | ‡2 BNF|12058299 | ||
| 996 | ‡2 ISNI|0000000140566509 | ||
| 996 | ‡2 SUDOC|249797968 | ||
| 996 | ‡2 ISNI|0000000073707163 | ||
| 996 | ‡2 NTA|06848481X | ||
| 996 | ‡2 LC|no2017079435 | ||
| 996 | ‡2 CAOONL|ncf11036118 | ||
| 996 | ‡2 PTBNP|137142 | ||
| 996 | ‡2 SUDOC|251171884 | ||
| 996 | ‡2 RERO|A020399548 | ||
| 996 | ‡2 ISNI|0000000095088279 | ||
| 996 | ‡2 SUDOC|086145118 | ||
| 996 | ‡2 NTA|071090533 | ||
| 996 | ‡2 ISNI|0000000023267083 | ||
| 996 | ‡2 BNF|14808609 | ||
| 996 | ‡2 BNF|12099698 | ||
| 996 | ‡2 ISNI|0000000001723455 | ||
| 996 | ‡2 ISNI|0000000121341486 | ||
| 996 | ‡2 BNE|XX907718 | ||
| 996 | ‡2 SUDOC|028827376 | ||
| 996 | ‡2 ISNI|0000000080021848 | ||
| 996 | ‡2 PTBNP|1252977 | ||
| 996 | ‡2 SUDOC|201601508 | ||
| 996 | ‡2 ISNI|0000000000270642 | ||
| 996 | ‡2 SUDOC|195722000 | ||
| 996 | ‡2 SUDOC|057402124 | ||
| 996 | ‡2 SUDOC|030370000 | ||
| 996 | ‡2 NTA|103947124 | ||
| 996 | ‡2 ISNI|0000000000510298 | ||
| 996 | ‡2 SUDOC|050442813 | ||
| 996 | ‡2 ISNI|0000000370139633 | ||
| 996 | ‡2 BIBSYS|90888206 | ||
| 996 | ‡2 BNCHL|10000000000000000168308 | ||
| 996 | ‡2 DNB|124404812 | ||
| 996 | ‡2 ARBABN|000063321 | ||
| 996 | ‡2 LC|no2001010449 | ||
| 996 | ‡2 BIBSYS|6019074 | ||
| 996 | ‡2 SUDOC|252740769 | ||
| 996 | ‡2 BNF|13091409 | ||
| 996 | ‡2 LC|nr2004023223 | ||
| 996 | ‡2 CAOONL|ncf12114940 | ||
| 996 | ‡2 ISNI|000000005114120X | ||
| 996 | ‡2 BNF|13085058 | ||
| 996 | ‡2 SUDOC|149334044 | ||
| 996 | ‡2 RERO|A000110802 | ||
| 996 | ‡2 SUDOC|196219566 | ||
| 996 | ‡2 RERO|A008624852 | ||
| 996 | ‡2 NII|DA01852221 | ||
| 996 | ‡2 ISNI|000000004895033X | ||
| 996 | ‡2 NKC|mzk2009532826 | ||
| 996 | ‡2 ISNI|0000000052907510 | ||
| 996 | ‡2 BNF|12823305 | ||
| 996 | ‡2 NUKAT|n 97003986 | ||
| 996 | ‡2 DNB|121288955X | ||
| 996 | ‡2 SUDOC|069923264 | ||
| 996 | ‡2 J9U|987007272585005171 | ||
| 996 | ‡2 NSK|000126010 | ||
| 996 | ‡2 NUKAT|n 2017033127 | ||
| 996 | ‡2 SUDOC|086524909 | ||
| 996 | ‡2 BNF|14527486 | ||
| 996 | ‡2 NKC|ola2014829555 | ||
| 996 | ‡2 CAOONL|ncf10923253 | ||
| 996 | ‡2 CAOONL|ncf10923254 | ||
| 996 | ‡2 DNB|103760217X | ||
| 996 | ‡2 ISNI|0000000046246939 | ||
| 996 | ‡2 DNB|1283997886 | ||
| 996 | ‡2 SUDOC|14054531X | ||
| 996 | ‡2 SUDOC|029955327 | ||
| 996 | ‡2 NTA|069251908 | ||
| 996 | ‡2 SZ|1050699254 | ||
| 996 | ‡2 SUDOC|26046189X | ||
| 996 | ‡2 DNB|1037635221 | ||
| 996 | ‡2 NTA|071984380 | ||
| 996 | ‡2 BNF|16553330 | ||
| 996 | ‡2 ISNI|0000000364298769 | ||
| 996 | ‡2 SUDOC|26879393X | ||
| 996 | ‡2 J9U|987007576398605171 | ||
| 996 | ‡2 SUDOC|160247136 | ||
| 996 | ‡2 J9U|987007434221405171 | ||
| 996 | ‡2 RERO|A003051843 | ||
| 996 | ‡2 LC|nb2005009773 | ||
| 996 | ‡2 NTA|072676205 | ||
| 996 | ‡2 PLWABN|9812830537305606 | ||
| 996 | ‡2 SUDOC|155387251 | ||
| 996 | ‡2 SUDOC|034658467 | ||
| 996 | ‡2 ISNI|0000000003072019 | ||
| 996 | ‡2 J9U|987007429780805171 | ||
| 996 | ‡2 BLBNB|000661424 | ||
| 996 | ‡2 LC|nb2019002580 | ||
| 996 | ‡2 SUDOC|073346500 | ||
| 996 | ‡2 SUDOC|076344312 | ||
| 996 | ‡2 SUDOC|23768151X | ||
| 996 | ‡2 NTA|072914769 | ||
| 996 | ‡2 BNF|12179897 | ||
| 996 | ‡2 NTA|438291522 | ||
| 996 | ‡2 NTA|06783888X | ||
| 996 | ‡2 LC|n 82157038 | ||
| 996 | ‡2 BNE|XX1629111 | ||
| 996 | ‡2 B2Q|0000900651 | ||
| 996 | ‡2 ISNI|000000039695066X | ||
| 996 | ‡2 DNB|1067959505 | ||
| 996 | ‡2 ISNI|0000000504100022 | ||
| 996 | ‡2 J9U|987008816738805171 | ||
| 996 | ‡2 ISNI|0000000000423290 | ||
| 996 | ‡2 NTA|421116951 | ||
| 996 | ‡2 SUDOC|191289698 | ||
| 996 | ‡2 LC|n 2009079579 | ||
| 996 | ‡2 BIBSYS|90940841 | ||
| 996 | ‡2 LC|n 95046588 | ||
| 996 | ‡2 BNC|981061125368806706 | ||
| 996 | ‡2 RERO|A014175409 | ||
| 996 | ‡2 ISNI|0000000459535739 | ||
| 996 | ‡2 BNF|12272609 | ||
| 996 | ‡2 PTBNP|165826 | ||
| 996 | ‡2 NTA|070120269 | ||
| 996 | ‡2 CAOONL|ncf10177026 | ||
| 996 | ‡2 BLBNB|000546067 | ||
| 996 | ‡2 DNB|104326069 | ||
| 996 | ‡2 NUKAT|n 2020207924 | ||
| 996 | ‡2 ISNI|0000000061399845 | ||
| 996 | ‡2 PLWABN|9813202376805606 | ||
| 996 | ‡2 RERO|A021650073 | ||
| 996 | ‡2 DNB|1134888791 | ||
| 996 | ‡2 ISNI|0000000359164280 | ||
| 996 | ‡2 BNF|10046938 | ||
| 996 | ‡2 BNC|981058511424706706 | ||
| 996 | ‡2 J9U|987007267278305171 | ||
| 996 | ‡2 PLWABN|9812032363505606 | ||
| 996 | ‡2 LC|n 2016188541 | ||
| 996 | ‡2 J9U|987007574168005171 | ||
| 996 | ‡2 PLWABN|9810607334805606 | ||
| 996 | ‡2 BNC|981058508693006706 | ||
| 996 | ‡2 LC|no2017037610 | ||
| 996 | ‡2 ISNI|0000000003215462 | ||
| 996 | ‡2 RERO|A017710725 | ||
| 996 | ‡2 SUDOC|076280918 | ||
| 996 | ‡2 LIH|LNB:DV_a__w_;=CC | ||
| 996 | ‡2 ISNI|0000000045405619 | ||
| 996 | ‡2 ISNI|0000000451735605 | ||
| 996 | ‡2 NTA|279952724 | ||
| 996 | ‡2 DNB|1052864031 | ||
| 996 | ‡2 LC|n 84191387 | ||
| 996 | ‡2 BNF|14017949 | ||
| 996 | ‡2 LC|nr 96030775 | ||
| 996 | ‡2 BNF|12156063 | ||
| 996 | ‡2 LC|n 2003128286 | ||
| 996 | ‡2 SUDOC|029183057 | ||
| 996 | ‡2 LC|nb 98076301 | ||
| 996 | ‡2 DE633|pe30073768 | ||
| 996 | ‡2 NUKAT|n 2011140926 | ||
| 996 | ‡2 DNB|124565611 | ||
| 996 | ‡2 SUDOC|057428875 | ||
| 997 | ‡a 0 0 lived 0 0 ‡9 1 |
