Etiology
Shchubelka K,
Turova L,
Wolfsberger W,
Kalanquin K,
Williston K,
Kurutsa O,
Makovetska A,
Hasynets Y,
Mirutenko V,
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Oleksyk TK
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McGillivray G,
Choi TI,
Allan CA,
Amor DJ,
Banka S,
Basel DG,
Buch LD,
Carere DA,
Carroll R,
Clayton-Smith J,
Crawford A,
Dunø M,
Faivre L,
Gilfillan CP,
Gold NB,
Gripp KW,
Hobson E,
Holtz AM,
Innes AM,
Isidor B,
Jackson A,
Katsonis P,
Amel Riazat Kesh L;
Genomics England Research Consortium,
Küry S,
Lecoquierre F,
Lockhart P,
Maraval J,
Matsumoto N,
McCarrier J,
McCarthy J,
Miyake N,
Moey LH,
Németh AH,
Østergaard E,
Patel R,
Pope K,
Posey JE,
Schnur RE,
Shaw M,
Stolerman E,
Taylor JP,
Wadman E,
Wakeling E,
White SM,
Wong LC,
Lupski JR,
Lichtarge O,
Corbett MA,
Gecz J,
Nicolet CM,
Farnham PJ,
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Shinawi M
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Diagnosis
Shchubelka K,
Turova L,
Wolfsberger W,
Kalanquin K,
Williston K,
Kurutsa O,
Makovetska A,
Hasynets Y,
Mirutenko V,
Vakerych M,
Oleksyk TK
J Neurodev Disord
2024 Mar 27;16(1):13.
doi: 10.1186/s11689-024-09528-x.
PMID: 38539105Free PMC Article
Freund MET,
van der Most F,
Visser WE
J Clin Res Pediatr Endocrinol
2024 Mar 11;16(1):1-3.
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Nagarajan B,
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Yoganathan S,
Sharawat IK,
Srivastava K,
Vora N,
Badheka R,
Danda S,
Kalane U,
Kaur A,
Madaan P,
Mehta S,
Negi S,
Panda PK,
Rajadhyaksha S,
Saini AG,
Saini L,
Shah S,
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Vyas S,
Sankhyan N,
Sahu JK
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2023 Dec;8(4):1383-1404.
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Storey E
Semin Neurol
2014 Jul;34(3):280-92.
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PMID: 25192506
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Therapy
Al-Hertani W,
Pathak RR,
Evuarherhe O,
Carter G,
Schaeffer-Koziol CR,
Whiteman DAH,
Wright E
Int J Mol Sci
2024 Aug 6;25(16)
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Buchanan CB,
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Dixon RE,
Scott AE,
Beisang AA,
Benke TA,
Glaze DG,
Haas RH,
Heydemann PT,
Jones MD,
Lane JB,
Lieberman DN,
Marsh ED,
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Bacos I,
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Dica A,
Dimitri P,
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Enderli A,
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Linder-Lucht M,
Lyons G,
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Moran C,
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Paone L,
Paul PG,
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Porta F,
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de Rijke YB,
Seckold R,
Menevşe TS,
Simm P,
Simon A,
Spada M,
Stoupa A,
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van Toor H,
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Prognosis
Shchubelka K,
Turova L,
Wolfsberger W,
Kalanquin K,
Williston K,
Kurutsa O,
Makovetska A,
Hasynets Y,
Mirutenko V,
Vakerych M,
Oleksyk TK
J Neurodev Disord
2024 Mar 27;16(1):13.
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PMID: 38539105Free PMC Article
van Geest FS,
Groeneweg S,
van den Akker ELT,
Bacos I,
Barca D,
van den Berg SAA,
Bertini E,
Brunner D,
Brunetti-Pierri N,
Cappa M,
Cappuccio G,
Chatterjee K,
Chesover AD,
Christian P,
Coutant R,
Craiu D,
Crock P,
Dewey C,
Dica A,
Dimitri P,
Dubey R,
Enderli A,
Fairchild J,
Gallichan J,
Garibaldi LR,
George B,
Hackenberg A,
Heinrich B,
Huynh T,
Kłosowska A,
Lawson-Yuen A,
Linder-Lucht M,
Lyons G,
Monti Lora F,
Moran C,
Müller KE,
Paone L,
Paul PG,
Polak M,
Porta F,
Reinauer C,
de Rijke YB,
Seckold R,
Menevşe TS,
Simm P,
Simon A,
Spada M,
Stoupa A,
Szeifert L,
Tonduti D,
van Toor H,
Turan S,
Vanderniet J,
de Waart M,
van der Wal R,
van der Walt A,
van Wermeskerken AM,
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Zibordi F,
Zung A,
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Kurutsa O,
Makovetska A,
Hasynets Y,
Mirutenko V,
Vakerych M,
Oleksyk TK
J Neurodev Disord
2024 Mar 27;16(1):13.
doi: 10.1186/s11689-024-09528-x.
PMID: 38539105Free PMC Article
Shepherdson JL,
Hutchison K,
Don DW,
McGillivray G,
Choi TI,
Allan CA,
Amor DJ,
Banka S,
Basel DG,
Buch LD,
Carere DA,
Carroll R,
Clayton-Smith J,
Crawford A,
Dunø M,
Faivre L,
Gilfillan CP,
Gold NB,
Gripp KW,
Hobson E,
Holtz AM,
Innes AM,
Isidor B,
Jackson A,
Katsonis P,
Amel Riazat Kesh L;
Genomics England Research Consortium,
Küry S,
Lecoquierre F,
Lockhart P,
Maraval J,
Matsumoto N,
McCarrier J,
McCarthy J,
Miyake N,
Moey LH,
Németh AH,
Østergaard E,
Patel R,
Pope K,
Posey JE,
Schnur RE,
Shaw M,
Stolerman E,
Taylor JP,
Wadman E,
Wakeling E,
White SM,
Wong LC,
Lupski JR,
Lichtarge O,
Corbett MA,
Gecz J,
Nicolet CM,
Farnham PJ,
Kim CH,
Shinawi M
Am J Hum Genet
2024 Mar 7;111(3):487-508.
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PMID: 38325380Free PMC Article
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2024 Jan 19;61(2):103-108.
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Nagarajan B,
Gowda VK,
Yoganathan S,
Sharawat IK,
Srivastava K,
Vora N,
Badheka R,
Danda S,
Kalane U,
Kaur A,
Madaan P,
Mehta S,
Negi S,
Panda PK,
Rajadhyaksha S,
Saini AG,
Saini L,
Shah S,
Srinivasan VM,
Suthar R,
Thomas M,
Vyas S,
Sankhyan N,
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Epilepsia Open
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Epub 2023 Aug 25
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PMID: 37583270Free PMC Article