Etiology
Opladen T,
López-Laso E,
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Pearson TS,
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Yildiz Y,
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Honzík T,
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Goez H,
Artuch R,
Hoffmann GF,
Horvath G,
Thöny B,
Scholl-Bürgi S,
Burlina A,
Verbeek MM,
Mastrangelo M,
Friedman J,
Wassenberg T,
Jeltsch K,
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Diagnosis
Elhawary NA,
AlJahdali IA,
Abumansour IS,
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Gaboon N,
Dandini M,
Madkhali A,
Alosaimi W,
Alzahrani A,
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Blau N,
Bosch AM,
Burlina A,
Campistol J,
Feillet F,
Giżewska M,
Huijbregts SC,
Kearney S,
Leuzzi V,
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Blau N,
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Blau N,
van Spronsen FJ,
Levy HL
Lancet
2010 Oct 23;376(9750):1417-27.
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PMID: 20971365
Therapy
Elhawary NA,
AlJahdali IA,
Abumansour IS,
Elhawary EN,
Gaboon N,
Dandini M,
Madkhali A,
Alosaimi W,
Alzahrani A,
Aljohani F,
Melibary EM,
Kensara OA
Hum Genomics
2022 Jul 19;16(
1):22.
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PMID: 35854334Free PMC Article
Opladen T,
López-Laso E,
Cortès-Saladelafont E,
Pearson TS,
Sivri HS,
Yildiz Y,
Assmann B,
Kurian MA,
Leuzzi V,
Heales S,
Pope S,
Porta F,
García-Cazorla A,
Honzík T,
Pons R,
Regal L,
Goez H,
Artuch R,
Hoffmann GF,
Horvath G,
Thöny B,
Scholl-Bürgi S,
Burlina A,
Verbeek MM,
Mastrangelo M,
Friedman J,
Wassenberg T,
Jeltsch K,
Kulhánek J,
Kuseyri Hübschmann O;
International Working Group on Neurotransmitter related Disorders (iNTD)
Orphanet J Rare Dis
2020 May 26;15(
1):126.
doi: 10.1186/s13023-020-01379-8.
PMID: 32456656Free PMC Article
Ozkor MA,
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2008 Jan;29(
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Allison AC
Lupus
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Prognosis
Jiang Y,
Zhao J,
Li R,
Liu Y,
Zhou L,
Wang C,
Lv C,
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J Exp Clin Cancer Res
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Gundorova P,
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Kakaulina VS,
Alferova IP,
Lyazina LV,
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Kanivets I,
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PLoS One
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Hillert A,
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Burlina A,
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Chiesa AE,
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Desviat LR,
Eliyahu A,
Evers RAF,
Fajkusova L,
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Leuzzi V,
Levy HL,
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Muntau AC,
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Paras A,
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Polak E,
Polyakov AV,
Porta F,
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Spécola N,
Stojiljković M,
Shen N,
Santana-da Silva LC,
Skouma A,
van Spronsen F,
Stoppioni V,
Thöny B,
Trefz FK,
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Zschocke J,
Hoffmann GF,
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Am J Hum Genet
2020 Aug
6;107(
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Blau N
Hum Mutat
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Zurflüh MR,
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Chery C,
Burlina A,
Stevens RC,
Thöny B,
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Hum Mutat
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Clinical prediction guides
Czibik G,
Mezdari Z,
Murat Altintas D,
Bréhat J,
Pini M,
d'Humières T,
Delmont T,
Radu C,
Breau M,
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Abatan A,
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Marion O,
Naushad S,
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Derumeaux G
Circulation
2021 Aug 17;144(7):559-574.
Epub 2021 Jun 24
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PMID: 34162223
Hillert A,
Anikster Y,
Belanger-Quintana A,
Burlina A,
Burton BK,
Carducci C,
Chiesa AE,
Christodoulou J,
Đorđević M,
Desviat LR,
Eliyahu A,
Evers RAF,
Fajkusova L,
Feillet F,
Bonfim-Freitas PE,
Giżewska M,
Gundorova P,
Karall D,
Kneller K,
Kutsev SI,
Leuzzi V,
Levy HL,
Lichter-Konecki U,
Muntau AC,
Namour F,
Oltarzewski M,
Paras A,
Perez B,
Polak E,
Polyakov AV,
Porta F,
Rohrbach M,
Scholl-Bürgi S,
Spécola N,
Stojiljković M,
Shen N,
Santana-da Silva LC,
Skouma A,
van Spronsen F,
Stoppioni V,
Thöny B,
Trefz FK,
Vockley J,
Yu Y,
Zschocke J,
Hoffmann GF,
Garbade SF,
Blau N
Am J Hum Genet
2020 Aug
6;107(
2):234-250.
Epub 2020 Jul 14
doi: 10.1016/j.ajhg.2020.06.006.
PMID: 32668217Free PMC Article
Mitchell SC,
Steventon GB
Xenobiotica
2020 Jan;50(
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Epub 2019 Jul 12
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PMID: 31233370
Blau N
Hum Mutat
2016 Jun;37(
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Epub 2016 Mar 18
doi: 10.1002/humu.22980.
PMID: 26919687
Zurflüh MR,
Zschocke J,
Lindner M,
Feillet F,
Chery C,
Burlina A,
Stevens RC,
Thöny B,
Blau N
Hum Mutat
2008 Jan;29(
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PMID: 17935162