Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Hélène Cao"'
Autor:
Emile Monin, Céline Bahim, Lou Baussand, Jean-François Cugnot, Maurizio Ranieri, Nils Guinand, Angélica Pérez Fornos, Hélène Cao Van
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionVestibular deficits are considered rare in children, but the lack of systematic screening leads to underdiagnosis. It has been demonstrated that chronic vestibular dysfunction impacts the normal psychomotor development of children. Early
Externí odkaz:
https://doaj.org/article/2619ddf34ba3486a91d82c12d4505931
Autor:
Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, Hélène Cao-van, Nils Guinand, Ariane Paoloni-Giacobino
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
Abstract Background Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different genes have been identifi
Externí odkaz:
https://doaj.org/article/102969af2e104a7a9fb8417aa5423bf4
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Sophie Fries, Sheila Unger, Viviane Cina, Alessandra Strom, Christian Simon, Pascal Senn, Hélène Cao Van, Ariane Paoloni-Giacobino
Publikováno v:
Revue Médicale Suisse. 18:1855-1859
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99cdb12107f94500b756d94167f51b7e
https://doi.org/10.53738/revmed.2022.18.798.1855
https://doi.org/10.53738/revmed.2022.18.798.1855
Autor:
Sophie, Fries, Sheila, Unger, Viviane, Cina, Alessandra, Strom, Ariane, Paoloni-Giacobino, Christian, Simon, Pascal, Senn, Hélène, Cao Van
Publikováno v:
Revue medicale suisse. 18(798)
Hearing loss is the most frequent sensory deficit at birth. Newborn hearing screening helps with early identification and clinical management of hearing deficits. A cochlear implantation is advised for profound hearing loss. Previously, an etiologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b4df53bcd64374055adb57895592cbe4
https://pubmed.ncbi.nlm.nih.gov/36200963
https://pubmed.ncbi.nlm.nih.gov/36200963
Publikováno v:
Revue Médicale Suisse. 15:1740-1745
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::950d16006a2f7f91f21eeeb0f521dd07
https://doi.org/10.53738/revmed.2019.15.665.1740
https://doi.org/10.53738/revmed.2019.15.665.1740
Autor:
Hélène Cao Van, Maria Teresa Carminho-Rodrigues, Marc Abramowicz, Sacha Laurent, Andrea M. Oza, Ariane Paoloni-Giacobino, Jean-Louis Blouin, Frédérique Béna, Michel Guipponi, Anne Vannier, Corinne Gehrig, Thierry Nouspikel, Sami S. Amr, Elissa Murphy
Publikováno v:
Human Mutation (2021)
Hum Mutat
Hum Mutat
Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14d48cddffad705b11977849c91fb9e7
https://archive-ouverte.unige.ch/unige:148701
https://archive-ouverte.unige.ch/unige:148701
Autor:
Constance Barazzone-Argiroffo, Carole Grasset Salomon, Albane B.R. Maggio, Regula Corbelli, Maurice Beghetti, Hélène Cao Van
Publikováno v:
International journal of pediatric otorhinolaryngology. 143
Objectives The prevalence of obstructive sleep apnea syndrome (OSAS) in children referred for sleep-disordered breathing reaches up to 59%. We aimed to test the adequacy of a questionnaire compared to home respiratory polygraphy (HRP), in 45 subjects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8537adf24ac74f956f7f37f236f768d7
https://pubmed.ncbi.nlm.nih.gov/33535090
https://pubmed.ncbi.nlm.nih.gov/33535090
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.