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RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
Clin Genet. 2023 Dec;104(6):669-673. doi: 10.1111/cge.14436. Epub 2023 Oct 21.
Clin Genet. 2023.
PMID: 37864412
A 22q13.1 duplication in mosaicism including SOX10.
Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschké P, Maurin ML, Lapierre JM, Loundon N, Belhous K, Bondurand N, Marlin S, Pingault V.
Bertani-Torres W, et al. Among authors: serey gaut m.
Am J Med Genet A. 2023 Dec;191(12):2813-2818. doi: 10.1002/ajmg.a.63362. Epub 2023 Aug 2.
Am J Med Genet A. 2023.
PMID: 37533297
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Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Rhamati L, Marcolla A, Guerrot AM, Lerosey Y, Goldenberg A, Serey-Gaut M, Rio M, Cormier Daire V, Baujat G, Lyonnet S, Rubinato E, Jonard L, Rondeau S, Rouillon I, Couloignier V, Jacquemont ML, Dupin Deguine D, Moutton S, Vincent M, Isidor B, Ziegler A, Marie JP, Marlin S.
Rhamati L, et al. Among authors: serey gaut m.
Int J Pediatr Otorhinolaryngol. 2023 Aug;171:111606. doi: 10.1016/j.ijporl.2023.111606. Epub 2023 Jun 11.
Int J Pediatr Otorhinolaryngol. 2023.
PMID: 37336020
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Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S.
Jonard L, et al. Among authors: serey gaut m.
Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029.
Audiol Res. 2023.
PMID: 37218840
Free PMC article.
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Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions.
Achard S, Campion M, Parodi M, MacAskill M, Hochet B, Simon F, Rouillon I, Jonard L, Serey-Gaut M, Denoyelle F, Loundon N, Marlin S.
Achard S, et al. Among authors: serey gaut m.
Otol Neurotol. 2023 Apr 1;44(4):e241-e245. doi: 10.1097/MAO.0000000000003825. Epub 2023 Feb 10.
Otol Neurotol. 2023.
PMID: 36764706
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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE.
Serey-Gaut M, et al.
Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31.
Am J Hum Genet. 2023.
PMID: 36724785
Free PMC article.
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Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
Serey-Gaut M, Scala M, Reversade B, Ruaud L, Cabrol C, Musacchia F, Torella A, Accogli A, Escande-Beillard N, Langlais J, Piatelli G, Consales A, Nigro V, Capra V, Van Maldergem L.
Serey-Gaut M, et al.
Am J Med Genet A. 2020 Jun;182(6):1466-1472. doi: 10.1002/ajmg.a.61549. Epub 2020 Mar 25.
Am J Med Genet A. 2020.
PMID: 32212228
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