Etiology
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Freisinger P,
Garber I,
Haack TB,
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Barić I,
Husain RA,
Kluijtmans LAJ,
Kotzaeridou U,
Morris AA,
Ross CJ,
Santra S,
Smeitink J,
Tarnopolsky M,
Wortmann SB,
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Prokisch H,
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Wevers RA,
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van Diemen CC,
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Abbott KM,
Herkert JC,
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Rump P,
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Neerincx PBT,
Jongbloed JDH,
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Pediatrics
2017 Oct;140(4)
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Diagnosis
Aleksic D,
Jankovic MG,
Todorovic S,
Kovacevic M,
Borkovic M
Turk J Pediatr
2023;65(6):1018-1024.
doi: 10.24953/turkjped.2022.1082.
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Angelova P,
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Todorova A
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Therapy
van Diemen CC,
Kerstjens-Frederikse WS,
Bergman KA,
de Koning TJ,
Sikkema-Raddatz B,
van der Velde JK,
Abbott KM,
Herkert JC,
Löhner K,
Rump P,
Meems-Veldhuis MT,
Neerincx PBT,
Jongbloed JDH,
van Ravenswaaij-Arts CM,
Swertz MA,
Sinke RJ,
van Langen IM,
Wijmenga C
Pediatrics
2017 Oct;140(4)
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Prognosis
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Gene
2021 Dec 15;804:145891.
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PMID: 34375635
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Genes (Basel)
2020 Sep 8;11(9)
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van Diemen CC,
Kerstjens-Frederikse WS,
Bergman KA,
de Koning TJ,
Sikkema-Raddatz B,
van der Velde JK,
Abbott KM,
Herkert JC,
Löhner K,
Rump P,
Meems-Veldhuis MT,
Neerincx PBT,
Jongbloed JDH,
van Ravenswaaij-Arts CM,
Swertz MA,
Sinke RJ,
van Langen IM,
Wijmenga C
Pediatrics
2017 Oct;140(4)
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Vernon HJ,
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Clinical prediction guides
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Maroofian R,
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Sadeghian S,
Galehdari H,
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Angelova P,
Velchev V,
Stoyanov N,
Atemin S,
Todorov T,
Tourtourikov I,
Mitev V,
Todorova A
Am J Med Genet A
2023 Jul;191(7):1804-1813.
Epub 2023 Apr 7
doi: 10.1002/ajmg.a.63205.
PMID: 37029485
He P,
Wang Q,
Hong X,
Yuan H
Am J Med Genet A
2023 Jan;191(1):70-76.
Epub 2022 Oct 11
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PMID: 36218002
Ji Y,
Wang S,
Cheng Y,
Fang L,
Zhao J,
Gao L,
Xu C
Gene
2021 Dec 15;804:145891.
Epub 2021 Aug 8
doi: 10.1016/j.gene.2021.145891.
PMID: 34375635
O'Byrne JJ,
Tarailo-Graovac M,
Ghani A,
Champion M,
Deshpande C,
Dursun A,
Ozgul RK,
Freisinger P,
Garber I,
Haack TB,
Horvath R,
Barić I,
Husain RA,
Kluijtmans LAJ,
Kotzaeridou U,
Morris AA,
Ross CJ,
Santra S,
Smeitink J,
Tarnopolsky M,
Wortmann SB,
Mayr JA,
Brunner-Krainz M,
Prokisch H,
Wasserman WW,
Wevers RA,
Engelke UF,
Rodenburg RJ,
Ting TW,
McFarland R,
Taylor RW,
Salvarinova R,
van Karnebeek CDM
Mol Genet Metab
2018 Jan;123(1):28-42.
Epub 2017 Nov 15
doi: 10.1016/j.ymgme.2017.11.003.
PMID: 29331171Free PMC Article