Etiology
Tropitzsch A,
Schade-Mann T,
Gamerdinger P,
Dofek S,
Schulte B,
Schulze M,
Battke F,
Fehr S,
Biskup S,
Heyd A,
Müller M,
Löwenheim H,
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Ear Hear
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Shinagawa J,
Moteki H,
Nishio SY,
Ohyama K,
Otsuki K,
Iwasaki S,
Masuda S,
Oshikawa C,
Ohta Y,
Arai Y,
Takahashi M,
Sakuma N,
Abe S,
Sakurai Y,
Sakaguchi H,
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Sci Rep
2020 Feb 27;10(1):3662.
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Kaito H,
Kanemoto K,
Kobayashi A,
Tanaka E,
Tanaka K,
Hama T,
Fujimaru R,
Miwa S,
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Horinouchi T,
Minamikawa S,
Nagata M,
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Clin Exp Nephrol
2019 Feb;23(2):158-168.
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Yang I
World Neurosurg
2018 Jan;109:47-58.
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Hussein BA,
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Kadir RA
Blood Coagul Fibrinolysis
2013 Jul;24(5):554-61.
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Diagnosis
Jimenez JE,
Nourbakhsh A,
Colbert B,
Mittal R,
Yan D,
Green CL,
Nisenbaum E,
Liu G,
Bencie N,
Rudman J,
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Zhong Liu X
Gene
2020 Jul 15;747:144677.
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Abe Y,
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Okada S,
Okamoto T,
Kaito H,
Kanemoto K,
Kobayashi A,
Tanaka E,
Tanaka K,
Hama T,
Fujimaru R,
Miwa S,
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Horinouchi T,
Minamikawa S,
Nagata M,
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Clin Exp Nephrol
2019 Feb;23(2):158-168.
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Cabanillas R,
Diñeiro M,
Cifuentes GA,
Castillo D,
Pruneda PC,
Álvarez R,
Sánchez-Durán N,
Capín R,
Plasencia A,
Viejo-Díaz M,
García-González N,
Hernando I,
Llorente JL,
Repáraz-Andrade A,
Torreira-Banzas C,
Rosell J,
Govea N,
Gómez-Martínez JR,
Núñez-Batalla F,
Garrote JA,
Mazón-Gutiérrez Á,
Costales M,
Isidoro-García M,
García-Berrocal B,
Ordóñez GR,
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BMC Med Genomics
2018 Jul 9;11(1):58.
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PLoS One
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Lenaers G,
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Procaccio V,
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Milea D
Orphanet J Rare Dis
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Therapy
Jimenez JE,
Nourbakhsh A,
Colbert B,
Mittal R,
Yan D,
Green CL,
Nisenbaum E,
Liu G,
Bencie N,
Rudman J,
Blanton SH,
Zhong Liu X
Gene
2020 Jul 15;747:144677.
Epub 2020 Apr 15
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PMID: 32304785Free PMC Article
Shinagawa J,
Moteki H,
Nishio SY,
Ohyama K,
Otsuki K,
Iwasaki S,
Masuda S,
Oshikawa C,
Ohta Y,
Arai Y,
Takahashi M,
Sakuma N,
Abe S,
Sakurai Y,
Sakaguchi H,
Ishino T,
Uehara N,
Usami SI
Sci Rep
2020 Feb 27;10(1):3662.
doi: 10.1038/s41598-020-60259-0.
PMID: 32107406Free PMC Article
Iwasa YI,
Nishio SY,
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PLoS One
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Marsella P,
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Int J Pediatr Otorhinolaryngol
2011 Oct;75(10):1308-12.
Epub 2011 Aug 11
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Prognosis
Liang L,
Wu H,
Cai Z,
Zhao J
BMC Med Genomics
2023 Aug 18;16(1):192.
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Nozu K,
Nakanishi K,
Abe Y,
Udagawa T,
Okada S,
Okamoto T,
Kaito H,
Kanemoto K,
Kobayashi A,
Tanaka E,
Tanaka K,
Hama T,
Fujimaru R,
Miwa S,
Yamamura T,
Yamamura N,
Horinouchi T,
Minamikawa S,
Nagata M,
Iijima K
Clin Exp Nephrol
2019 Feb;23(2):158-168.
Epub 2018 Aug 20
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PMID: 30128941Free PMC Article
Cabanillas R,
Diñeiro M,
Cifuentes GA,
Castillo D,
Pruneda PC,
Álvarez R,
Sánchez-Durán N,
Capín R,
Plasencia A,
Viejo-Díaz M,
García-González N,
Hernando I,
Llorente JL,
Repáraz-Andrade A,
Torreira-Banzas C,
Rosell J,
Govea N,
Gómez-Martínez JR,
Núñez-Batalla F,
Garrote JA,
Mazón-Gutiérrez Á,
Costales M,
Isidoro-García M,
García-Berrocal B,
Ordóñez GR,
Cadiñanos J
BMC Med Genomics
2018 Jul 9;11(1):58.
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PMID: 29986705Free PMC Article
Kim SJ,
Lee S,
Park HJ,
Kang TH,
Sagong B,
Baek JI,
Oh SK,
Choi JY,
Lee KY,
Kim UK
Gene
2016 Oct 10;591(1):177-182.
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Lenaers G,
Hamel C,
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Amati-Bonneau P,
Procaccio V,
Bonneau D,
Reynier P,
Milea D
Orphanet J Rare Dis
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Clinical prediction guides
Liang L,
Wu H,
Cai Z,
Zhao J
BMC Med Genomics
2023 Aug 18;16(1):192.
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PMID: 37596645Free PMC Article
Boucher S,
Tai FWJ,
Delmaghani S,
Lelli A,
Singh-Estivalet A,
Dupont T,
Niasme-Grare M,
Michel V,
Wolff N,
Bahloul A,
Bouyacoub Y,
Bouccara D,
Fraysse B,
Deguine O,
Collet L,
Thai-Van H,
Ionescu E,
Kemeny JL,
Giraudet F,
Lavieille JP,
Devèze A,
Roudevitch-Pujol AL,
Vincent C,
Renard C,
Franco-Vidal V,
Thibult-Apt C,
Darrouzet V,
Bizaguet E,
Coez A,
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