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- Q89542857 description "artículu científicu espublizáu en febreru de 2020" @default.
- Q89542857 description "scientific article published on 05 February 2020" @default.
- Q89542857 description "wetenschappelijk artikel" @default.
- Q89542857 description "наукова стаття, опублікована 5 лютого 2020" @default.
- Q89542857 name "A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing" @default.
- Q89542857 name "A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing" @default.
- Q89542857 type Item @default.
- Q89542857 label "A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing" @default.
- Q89542857 label "A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing" @default.
- Q89542857 prefLabel "A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing" @default.
- Q89542857 prefLabel "A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing" @default.
- Q89542857 P1433 Q89542857-DDA657A2-2A69-4652-A5AA-929B734959BC @default.
- Q89542857 P1476 Q89542857-A5F945AC-AFEC-4345-A116-30CCC4575908 @default.
- Q89542857 P2093 Q89542857-04642A5D-6214-48A1-B3B9-69A88CC333A0 @default.
- Q89542857 P2093 Q89542857-140B68FE-4EAF-4A97-8DA0-EBED3FD89136 @default.
- Q89542857 P2093 Q89542857-25473207-8C73-4BA6-BA71-BDC4A26A7E8B @default.
- Q89542857 P2093 Q89542857-353CDE77-E372-400D-AF03-D7386922B377 @default.
- Q89542857 P2093 Q89542857-79B362C6-AC72-4932-AB81-E04911825493 @default.
- Q89542857 P2093 Q89542857-8192379B-F9DA-4117-B21D-4E13CA751F0D @default.
- Q89542857 P2093 Q89542857-B1276177-F1EE-40E7-A3CF-F9FC7AA139FB @default.
- Q89542857 P2093 Q89542857-B74FD944-501D-4BD0-A5DB-92306E40DC12 @default.
- Q89542857 P2093 Q89542857-C6254DA0-712A-4175-8E64-D283611144DD @default.
- Q89542857 P2093 Q89542857-D1BDCC4A-CC7E-4EF4-B346-217A897F3A4B @default.
- Q89542857 P2093 Q89542857-E718311F-E87F-4B9E-B6C3-A9D1AEBFA932 @default.
- Q89542857 P304 Q89542857-845EAB10-8AFD-412C-95B2-C9340D236C8B @default.
- Q89542857 P31 Q89542857-287842A3-AB8D-4B42-9DDC-CAA2AF66961F @default.
- Q89542857 P356 Q89542857-044C7BCA-FEC3-4BC4-AD6D-C95C23522960 @default.
- Q89542857 P433 Q89542857-DAFCFB13-018E-4E73-9E64-83067D46093D @default.
- Q89542857 P478 Q89542857-BE91967D-0CA1-461E-AA8B-ED537C061A3B @default.
- Q89542857 P50 Q89542857-2D1DBBD6-AF1E-4CF4-8BC3-A3FE8B7E24AD @default.
- Q89542857 P50 Q89542857-E745D37B-CF1C-4439-BEAF-312FB145BAEA @default.
- Q89542857 P577 Q89542857-67EA62AB-E9F0-4F4D-98AD-41206E235461 @default.
- Q89542857 P698 Q89542857-68E4982A-ED1D-4CE8-B436-95ABEDF2DDEF @default.
- Q89542857 P921 Q89542857-6F0557F2-6B6E-47F1-95A2-17BC35010367 @default.
- Q89542857 P356 AJMG.A.61498 @default.
- Q89542857 P698 32022391 @default.
- Q89542857 P1433 Q4744254 @default.
- Q89542857 P1476 "A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing" @default.
- Q89542857 P2093 "Amy Kritzer" @default.
- Q89542857 P2093 "Casie A Genetti" @default.
- Q89542857 P2093 "Cynthia S Gubbels" @default.
- Q89542857 P2093 "Grace VanNoy" @default.
- Q89542857 P2093 "Jane Juusola" @default.
- Q89542857 P2093 "Jiahai Shi" @default.
- Q89542857 P2093 "Pankaj B Agrawal" @default.
- Q89542857 P2093 "Patricia Ellen Grant" @default.
- Q89542857 P2093 "Tian Zhang" @default.
- Q89542857 P2093 "Timothy W Yu" @default.
- Q89542857 P2093 "William J Brucker" @default.
- Q89542857 P304 "780-784" @default.
- Q89542857 P31 Q13442814 @default.
- Q89542857 P356 "10.1002/AJMG.A.61498" @default.
- Q89542857 P433 "4" @default.
- Q89542857 P478 "182" @default.
- Q89542857 P50 Q100466959 @default.
- Q89542857 P50 Q88499631 @default.
- Q89542857 P577 "2020-02-05T00:00:00Z" @default.
- Q89542857 P698 "32022391" @default.
- Q89542857 P921 Q2823334 @default.