Search
| Leader | 00000nz a2200037n 45 0 | ||
|---|---|---|---|
| 001 | WKP|Q73964537 (VIAF cluster) (Authority/Source Record) | ||
| 003 | WKP | ||
| 005 | 20241121000110.0 | ||
| 008 | 241121nneanz||abbn n and d | ||
| 035 | ‡a (WKP)Q73964537 | ||
| 024 | ‡a 0000-0002-1262-8597 ‡2 orcid | ||
| 035 | ‡a (OCoLC)Q73964537 | ||
| 100 | 0 | ‡a Jin-Sung Lee ‡c researcher ‡9 en | |
| 400 | 0 | ‡a Lee JS ‡c onderzoeker ‡9 nl | |
| 670 | ‡a Author's A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1 | ||
| 670 | ‡a Author's A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease. | ||
| 670 | ‡a Author's Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency. | ||
| 670 | ‡a Author's Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? | ||
| 670 | ‡a Author's Expression of genes involved in mammalian meiosis during the transition from egg to embryo. | ||
| 670 | ‡a Author's Genitopatellar Syndrome Secondary to Mutation: The First Genetically Confirmed Case in South Korea | ||
| 670 | ‡a Author's Identification of disease comorbidity through hidden molecular mechanisms | ||
| 670 | ‡a Author's Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates | ||
| 670 | ‡a Author's MedRefSNP: a database of medically investigated SNPs. | ||
| 670 | ‡a Author's Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient | ||
| 670 | ‡a Author's The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea | ||
| 670 | ‡a Author's Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS. | ||
| 909 | ‡a (orcid) 0000000212628597 ‡9 1 | ||
| 919 | ‡a novelcompoundheterozygousmutationoftheairegeneinapatientwithautoimmunepolyendocrinesyndrometype1 ‡A A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1 ‡9 1 | ||
| 919 | ‡a variationsinplasmaandurinarylipidsinresponsetoenzymereplacementtherapyforfabrydiseasepatientsbynanoflowuplcesimsms ‡A Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS. ‡9 1 | ||
| 919 | ‡a 1caseseriesofcryopyrinassociatedperiodicsyndromeinkorea ‡A The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea ‡9 1 | ||
| 919 | ‡a mucocutaneoustelangiectasiaasadiagnosticclueofhereditaryhemorrhagictelangiectasiaanactivinreceptorlikekinase1mutationinakoreanpatient ‡A Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient ‡9 1 | ||
| 919 | ‡a medrefsnpadatabaseofmedicallyinvestigatedsnps ‡A MedRefSNP: a database of medically investigated SNPs. ‡9 1 | ||
| 919 | ‡a implementationofatargetednextgenerationsequencingpanelforconstitutionalnewbornscreeninginhighriskneonates ‡A Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates ‡9 1 | ||
| 919 | ‡a identificationofdiseasecomorbiditythroughhiddenmolecularmechanisms ‡A Identification of disease comorbidity through hidden molecular mechanisms ‡9 1 | ||
| 919 | ‡a genitopatellarsyndromesecondarytomutationthe1geneticallyconfirmedcaseinsouthkorea ‡A Genitopatellar Syndrome Secondary to Mutation: The First Genetically Confirmed Case in South Korea ‡9 1 | ||
| 919 | ‡a expressionofgenesinvolvedinmammalianmeiosisduringthetransitionfromeggtoembryo ‡A Expression of genes involved in mammalian meiosis during the transition from egg to embryo. ‡9 1 | ||
| 919 | ‡a alpershuttenlochersyndrome1presentedwithhepaticfailurecanlivertransplantationbeconsideredastreatmentoption ‡A Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? ‡9 1 | ||
| 919 | ‡a acutetreatmentofhyperammonemiabycontinuousrenalreplacementtherapyinanewbornpatientwithornithinetranscarbamylasedeficiency ‡A Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency. ‡9 1 | ||
| 919 | ‡a phase2multicenteropenlabelswitchovertrialtoevaluatethesafetyandefficacyofabcertininpatientswithtype1gaucherdisease ‡A A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease. ‡9 1 | ||
| 996 | ‡2 DNB|1209492024 | ||
| 996 | ‡2 ISNI|0000000492084466 | ||
| 996 | ‡2 NUKAT|n 2020149446 | ||
| 996 | ‡2 ISNI|0000000475121915 | ||
| 996 | ‡2 ISNI|0000000505127040 | ||
| 996 | ‡2 ISNI|0000000491601679 | ||
| 996 | ‡2 SKMASNL|vtls012603059 | ||
| 996 | ‡2 ISNI|0000000464905570 | ||
| 996 | ‡2 ISNI|0000000473973006 | ||
| 996 | ‡2 DNB|1024151905 | ||
| 996 | ‡2 ISNI|0000000468730624 | ||
| 996 | ‡2 ISNI|0000000477548699 | ||
| 996 | ‡2 ISNI|0000000465187478 | ||
| 996 | ‡2 LC|no2023101756 | ||
| 996 | ‡2 ISNI|0000000503608713 | ||
| 996 | ‡2 ISNI|0000000503524624 | ||
| 996 | ‡2 ISNI|0000000479226343 | ||
| 996 | ‡2 ISNI|0000000377491859 | ||
| 996 | ‡2 NLA|000035296936 | ||
| 996 | ‡2 ISNI|0000000463357277 | ||
| 996 | ‡2 PLWABN|9810660600205606 | ||
| 996 | ‡2 ISNI|0000000473738188 | ||
| 996 | ‡2 ISNI|0000000492052501 | ||
| 996 | ‡2 DNB|1041652844 | ||
| 996 | ‡2 ISNI|0000000473785291 | ||
| 996 | ‡2 BNF|12536294 | ||
| 996 | ‡2 NTA|068281579 | ||
| 996 | ‡2 SUDOC|069559503 | ||
| 996 | ‡2 ISNI|0000000464330703 | ||
| 996 | ‡2 BIBSYS|90362303 | ||
| 996 | ‡2 ISNI|000000049218925X | ||
| 996 | ‡2 ISNI|000000050479655X | ||
| 996 | ‡2 ISNI|000000049245202X | ||
| 996 | ‡2 ISNI|0000000492997142 | ||
| 996 | ‡2 ISNI|0000000479757814 | ||
| 996 | ‡2 ISNI|0000000480142358 | ||
| 996 | ‡2 BNF|16969393 | ||
| 996 | ‡2 SUDOC|03369219X | ||
| 996 | ‡2 DNB|172549086 | ||
| 996 | ‡2 DNB|1183042833 | ||
| 996 | ‡2 ISNI|000000049409326X | ||
| 996 | ‡2 ISNI|0000000468703722 | ||
| 996 | ‡2 ISNI|0000000512526234 | ||
| 996 | ‡2 ISNI|0000000505458069 | ||
| 996 | ‡2 ISNI|0000000460168956 | ||
| 996 | ‡2 ISNI|0000000504170119 | ||
| 996 | ‡2 NYNYRILM|185417 | ||
| 996 | ‡2 ISNI|0000000352764400 | ||
| 996 | ‡2 ISNI|0000000505674482 | ||
| 996 | ‡2 NKC|ola20221155919 | ||
| 996 | ‡2 ISNI|0000000475233378 | ||
| 996 | ‡2 ISNI|0000000047376313 | ||
| 996 | ‡2 LC|n 84218241 | ||
| 996 | ‡2 ISNI|0000000477798794 | ||
| 996 | ‡2 DNB|1050513967 | ||
| 996 | ‡2 BNF|12309063 | ||
| 996 | ‡2 ISNI|0000000039677044 | ||
| 996 | ‡2 ISNI|0000000473888725 | ||
| 996 | ‡2 ISNI|0000000493175626 | ||
| 996 | ‡2 ISNI|0000000493004202 | ||
| 996 | ‡2 ISNI|0000000040397277 | ||
| 996 | ‡2 J9U|987007393337505171 | ||
| 996 | ‡2 ISNI|0000000468016906 | ||
| 996 | ‡2 ISNI|0000000494096591 | ||
| 996 | ‡2 ISNI|0000000513372820 | ||
| 996 | ‡2 ISNI|0000000513331711 | ||
| 996 | ‡2 ISNI|0000000464770768 | ||
| 996 | ‡2 ISNI|0000000467622277 | ||
| 996 | ‡2 DNB|1163414425 | ||
| 996 | ‡2 J9U|987007297153905171 | ||
| 996 | ‡2 ISNI|0000000507274351 | ||
| 996 | ‡2 ISNI|0000000505906909 | ||
| 996 | ‡2 ISNI|0000000474021453 | ||
| 996 | ‡2 ISNI|000000004219481X | ||
| 996 | ‡2 ISNI|0000000491938298 | ||
| 996 | ‡2 ISNI|000000048027369X | ||
| 996 | ‡2 BNF|16178432 | ||
| 996 | ‡2 ISNI|0000000044610098 | ||
| 996 | ‡2 ISNI|0000000505044595 | ||
| 996 | ‡2 ISNI|0000000477610245 | ||
| 996 | ‡2 NTA|175134502 | ||
| 996 | ‡2 ISNI|0000000063586177 | ||
| 996 | ‡2 ISNI|000000050563435X | ||
| 996 | ‡2 ISNI|0000000464626475 | ||
| 996 | ‡2 ISNI|0000000505729367 | ||
| 996 | ‡2 ISNI|0000000513387133 | ||
| 996 | ‡2 LC|nb2012020471 | ||
| 996 | ‡2 ISNI|000000046473197X | ||
| 996 | ‡2 J9U|987007264408005171 | ||
| 996 | ‡2 ISNI|0000000468742860 | ||
| 996 | ‡2 W2Z|1579001847770 | ||
| 996 | ‡2 ISNI|0000000492249101 | ||
| 996 | ‡2 ISNI|0000000473660245 | ||
| 996 | ‡2 ISNI|0000000050951868 | ||
| 996 | ‡2 ISNI|0000000513326453 | ||
| 996 | ‡2 ISNI|0000000084807215 | ||
| 996 | ‡2 ISNI|0000000464477967 | ||
| 996 | ‡2 ISNI|0000000477797927 | ||
| 996 | ‡2 BNF|16633480 | ||
| 996 | ‡2 ISNI|0000000494016010 | ||
| 996 | ‡2 LC|n 2018015698 | ||
| 996 | ‡2 ISNI|0000000074783088 | ||
| 996 | ‡2 NUKAT|n 2006121015 | ||
| 996 | ‡2 ISNI|0000000473375743 | ||
| 996 | ‡2 ISNI|0000000382265725 | ||
| 996 | ‡2 ISNI|0000000494016838 | ||
| 996 | ‡2 ISNI|0000000513360141 | ||
| 996 | ‡2 PLWABN|9812463811705606 | ||
| 996 | ‡2 NII|DA05387101 | ||
| 996 | ‡2 SUDOC|136809995 | ||
| 996 | ‡2 ISNI|0000000503519569 | ||
| 996 | ‡2 ISNI|0000000516807789 | ||
| 996 | ‡2 ISNI|0000000479085632 | ||
| 996 | ‡2 SKMASNL|vtls012393785 | ||
| 996 | ‡2 ISNI|0000000504707561 | ||
| 996 | ‡2 ISNI|0000000505778417 | ||
| 996 | ‡2 ISNI|0000000465028661 | ||
| 996 | ‡2 ISNI|0000000494009726 | ||
| 996 | ‡2 LC|no2022104583 | ||
| 996 | ‡2 SUDOC|086001078 | ||
| 996 | ‡2 ISNI|0000000513545509 | ||
| 996 | ‡2 ISNI|0000000504501678 | ||
| 996 | ‡2 ISNI|0000000463280572 | ||
| 996 | ‡2 ISNI|0000000464595218 | ||
| 996 | ‡2 ISNI|0000000079700309 | ||
| 996 | ‡2 ISNI|0000000499405066 | ||
| 996 | ‡2 ISNI|0000000459353011 | ||
| 996 | ‡2 BNC|981061038059206706 | ||
| 996 | ‡2 ISNI|0000000075153811 | ||
| 996 | ‡2 DNB|1015532659 | ||
| 996 | ‡2 ISNI|0000000463329575 | ||
| 996 | ‡2 ISNI|0000000468066639 | ||
| 996 | ‡2 LC|n 2023035863 | ||
| 996 | ‡2 NSK|000465795 | ||
| 996 | ‡2 ISNI|0000000505969280 | ||
| 996 | ‡2 LC|n 86869517 | ||
| 996 | ‡2 ISNI|0000000492306938 | ||
| 996 | ‡2 ISNI|0000000477206832 | ||
| 996 | ‡2 ISNI|000000047895957X | ||
| 996 | ‡2 ISNI|0000000464790208 | ||
| 996 | ‡2 LC|no2008172475 | ||
| 996 | ‡2 ISNI|0000000473993306 | ||
| 996 | ‡2 ISNI|000000046506825X | ||
| 996 | ‡2 ISNI|0000000508247670 | ||
| 996 | ‡2 CYT|AC000215791 | ||
| 996 | ‡2 ISNI|000000047923372X | ||
| 996 | ‡2 ISNI|0000000507801027 | ||
| 996 | ‡2 ISNI|000000050582599X | ||
| 996 | ‡2 ISNI|0000000505748162 | ||
| 996 | ‡2 ISNI|0000000467851811 | ||
| 996 | ‡2 ISNI|0000000505691960 | ||
| 996 | ‡2 LC|no2004064430 | ||
| 996 | ‡2 SUDOC|243280955 | ||
| 996 | ‡2 LC|n 2018220852 | ||
| 996 | ‡2 ISNI|0000000468018012 | ||
| 996 | ‡2 LC|n 2009040121 | ||
| 996 | ‡2 ISNI|0000000475088799 | ||
| 996 | ‡2 ISNI|0000000493354691 | ||
| 996 | ‡2 LC|n 81144986 | ||
| 996 | ‡2 ISNI|0000000505166808 | ||
| 996 | ‡2 NTA|235692093 | ||
| 996 | ‡2 BIBSYS|12007431 | ||
| 996 | ‡2 ISNI|0000000480117857 | ||
| 996 | ‡2 ISNI|0000000505527095 | ||
| 996 | ‡2 ISNI|0000000461090708 | ||
| 996 | ‡2 ISNI|0000000493170542 | ||
| 996 | ‡2 ISNI|0000000516884717 | ||
| 996 | ‡2 ISNI|0000000467795039 | ||
| 996 | ‡2 ISNI|0000000467650390 | ||
| 996 | ‡2 ISNI|0000000464700217 | ||
| 996 | ‡2 ISNI|0000000467764064 | ||
| 996 | ‡2 ISNI|0000000504945949 | ||
| 996 | ‡2 ISNI|0000000120314806 | ||
| 996 | ‡2 ISNI|0000000032829113 | ||
| 996 | ‡2 ISNI|0000000072532218 | ||
| 996 | ‡2 LC|n 2015019836 | ||
| 996 | ‡2 SUDOC|074105787 | ||
| 996 | ‡2 ISNI|000000008333839X | ||
| 996 | ‡2 ISNI|0000000493138681 | ||
| 996 | ‡2 ISNI|0000000464626563 | ||
| 996 | ‡2 ISNI|0000000513476275 | ||
| 996 | ‡2 SUDOC|201058189 | ||
| 996 | ‡2 ISNI|0000000513618464 | ||
| 996 | ‡2 ISNI|0000000464895907 | ||
| 996 | ‡2 LC|no 96038279 | ||
| 996 | ‡2 LC|no2007098361 | ||
| 996 | ‡2 ISNI|0000000467820687 | ||
| 996 | ‡2 ISNI|0000000504190590 | ||
| 996 | ‡2 NUKAT|n 00041489 | ||
| 996 | ‡2 NUKAT|n 2013011997 | ||
| 996 | ‡2 ISNI|0000000468024818 | ||
| 996 | ‡2 ISNI|0000000492249005 | ||
| 996 | ‡2 ISNI|0000000493248549 | ||
| 996 | ‡2 ISNI|0000000473545693 | ||
| 996 | ‡2 ISNI|0000000492097507 | ||
| 996 | ‡2 SUDOC|268658633 | ||
| 996 | ‡2 ISNI|0000000474202668 | ||
| 996 | ‡2 ISNI|0000000475299908 | ||
| 996 | ‡2 ISNI|0000000512785148 | ||
| 996 | ‡2 RERO|A009664607 | ||
| 996 | ‡2 NSK|000340567 | ||
| 996 | ‡2 ISNI|0000000474023897 | ||
| 996 | ‡2 ISNI|0000000468728751 | ||
| 996 | ‡2 RERO|A000103599 | ||
| 996 | ‡2 ISNI|0000000467850624 | ||
| 996 | ‡2 ISNI|0000000474911544 | ||
| 996 | ‡2 DNB|139214968 | ||
| 996 | ‡2 NUKAT|n 2007118987 | ||
| 996 | ‡2 LC|n 80060297 | ||
| 996 | ‡2 BNF|17782371 | ||
| 996 | ‡2 DNB|1238641385 | ||
| 996 | ‡2 ISNI|0000000480282916 | ||
| 996 | ‡2 ISNI|0000000478985161 | ||
| 996 | ‡2 BIBSYS|90386639 | ||
| 996 | ‡2 ISNI|0000000502807382 | ||
| 996 | ‡2 ISNI|0000000473654849 | ||
| 996 | ‡2 ISNI|0000000513345232 | ||
| 996 | ‡2 ISNI|0000000474896233 | ||
| 996 | ‡2 ISNI|0000000509592345 | ||
| 996 | ‡2 ISNI|0000000465086415 | ||
| 996 | ‡2 ISNI|0000000492208350 | ||
| 996 | ‡2 ISNI|0000000491682552 | ||
| 996 | ‡2 ISNI|000000050530967X | ||
| 996 | ‡2 ISNI|0000000493248338 | ||
| 996 | ‡2 ISNI|0000000468319587 | ||
| 996 | ‡2 BNF|11912940 | ||
| 996 | ‡2 W2Z|1602157051665 | ||
| 996 | ‡2 LC|n 2017028004 | ||
| 996 | ‡2 ISNI|0000000513959410 | ||
| 996 | ‡2 ISNI|0000000000425245 | ||
| 996 | ‡2 ISNI|0000000479226204 | ||
| 996 | ‡2 LC|no2012043341 | ||
| 996 | ‡2 ISNI|000000049158870X | ||
| 996 | ‡2 ISNI|0000000477033556 | ||
| 996 | ‡2 ISNI|0000000468703618 | ||
| 996 | ‡2 BNCHL|10000000000000000219184 | ||
| 996 | ‡2 SUDOC|147906083 | ||
| 996 | ‡2 DNB|1298465788 | ||
| 996 | ‡2 NUKAT|n 2020021087 | ||
| 996 | ‡2 ISNI|0000000513469091 | ||
| 996 | ‡2 SUDOC|22852542X | ||
| 996 | ‡2 ISNI|0000000464782355 | ||
| 996 | ‡2 ISNI|0000000480273366 | ||
| 996 | ‡2 ISNI|0000000480273817 | ||
| 996 | ‡2 ISNI|000000051471102X | ||
| 996 | ‡2 ISNI|0000000475290997 | ||
| 996 | ‡2 ISNI|0000000464886939 | ||
| 996 | ‡2 ISNI|0000000464388251 | ||
| 996 | ‡2 ISNI|0000000476691880 | ||
| 996 | ‡2 ISNI|0000000464594901 | ||
| 997 | ‡a 0 0 lived 0 0 ‡9 1 |
