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A 22q13.1 duplication in mosaicism including SOX10.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2813, doi. 10.1002/ajmg.a.63362
By:
- Bertani‐Torres, William;
- Serey‐Gaut, Margaux;
- de Oliveira, Judite;
- Bole, Christine;
- Parisot, Mélanie;
- Nistschké, Patrick;
- Maurin, Marie‐Laure;
- Lapierre, Jean‐Michel;
- Loundon, Natalie;
- Belhous, Kahina;
- Bondurand, Nadège;
- Marlin, Sandrine;
- Pingault, Véronique
Publication type:
Article
Le dépistage néonatal de la surdité.
Published in:
Médecine Sciences, 2021, v. 37, n. 5, p. 519, doi. 10.1051/medsci/2021064
By:
- Denoyelle, Françoise;
- Rouillon, Isabelle;
- Alvin, Fiona;
- Parodi, Marine;
- Couloigner, Vincent;
- Loundon, Natalie;
- Garabédian, Noël
Publication type:
Article
Reliability of the Language ENvironment Analysis system (LENA™) in European French.
Published in:
Behavior Research Methods, 2016, v. 48, n. 3, p. 1109, doi. 10.3758/s13428-015-0634-8
By:
- Canault, Mélanie;
- Normand, Marie-Thérèse;
- Foudil, Samy;
- Loundon, Natalie;
- Thai-Van, Hung
Publication type:
Article
Long-term outcomes of retrospective case series of middle ear implantation with Vibrant Soundbridge in children with congenital aural atresia.
Published in:
European Archives of Oto-Rhino-Laryngology, 2023, v. 280, n. 4, p. 1629, doi. 10.1007/s00405-022-07633-y
By:
- Cadre, Barbara;
- Simon, François;
- Célérier, Charlotte;
- Coudert, Cyrille;
- Flament, Jonathan;
- Loundon, Natalie;
- Belhous, Kahina;
- Denoyelle, Françoise
Publication type:
Article
Auditory processing disorder in children: the value of a multidisciplinary assessment.
Published in:
European Archives of Oto-Rhino-Laryngology, 2021, v. 278, n. 12, p. 4749, doi. 10.1007/s00405-020-06601-8
By:
- Rouillon, Isabelle;
- de Lamaze, Aude;
- Ribot, Marlène;
- Collet, Gregory;
- de Bollardière, Théodora;
- Elmir, Razane;
- Parodi, Marine;
- Achard, Sophie;
- Denoyelle, Françoise;
- Loundon, Natalie
Publication type:
Article
Benefits from upgrade to the CP810™ sound processor for Nucleus 24 cochlear implant recipients.
Published in:
European Archives of Oto-Rhino-Laryngology, 2014, v. 271, n. 1, p. 49, doi. 10.1007/s00405-013-2381-8
By:
- Mosnier, Isabelle;
- Marx, Mathieu;
- Venail, Frederic;
- Loundon, Natalie;
- Roux-Vaillard, Samantha;
- Sterkers, Olivier
Publication type:
Article
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 9, p. 990, doi. 10.1038/ejhg.2012.29
By:
- Bondurand, Nadége;
- Fouquet, Virginie;
- Baral, Viviane;
- Lecerf, Laure;
- Loundon, Natalie;
- Goossens, Michel;
- Duriez, Benedicte;
- Labrune, Philippe;
- Pingault, Veronique
Publication type:
Article
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 4, p. 279, doi. 10.1038/sj.ejhg.5201147
By:
- Feldmann, Delphine;
- Denoyelle, Françoise;
- Loundon, Natalie;
- Weil, Dominique;
- Garabedian, Erea-Noel;
- Couderc, Remy;
- Joannard, Alain;
- Schmerber, Sébastien;
- Delobel, Bruno;
- Leman, Jacques;
- Journel, Hubert;
- Catros, Hélène;
- Ferrec, Claude;
- Drouin-Garraud, Valérie;
- Obstoy, Marie-Françoise;
- Moati, Lucien;
- Petit, Christine;
- Marlin, Sandrine
Publication type:
Article
HDR syndrome: Large cohort and systematic review.
Published in:
Clinical Genetics, 2024, v. 106, n. 5, p. 564, doi. 10.1111/cge.14583
By:
- Rive Le Gouard, Nicolas;
- Lafond‐Rive, Valentin;
- Jonard, Laurence;
- Loundon, Natalie;
- Achard, Sophie;
- Heidet, Laurence;
- Mosnier, Isabelle;
- Lyonnet, Stanislas;
- Brioude, Frederic;
- Serey Gaut, Margaux;
- Marlin, Sandrine
Publication type:
Article
RIPOR2: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
Published in:
Clinical Genetics, 2023, v. 104, n. 6, p. 669, doi. 10.1111/cge.14436
By:
- Morel, Godelieve;
- Ernest, Sylvain;
- Serey‐Gaut, Margaux;
- Jonard, Laurence;
- Balogoun, Abeke Ralyath;
- Parodi, Marine;
- Loundon, Natalie;
- Achard, Sophie;
- Marlin, Sandrine
Publication type:
Article
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Published in:
Clinical Genetics, 2019, v. 95, n. 1, p. 177, doi. 10.1111/cge.13460
By:
- Lerat, Justine;
- Marlin, Sandrine;
- Mezouaghi, Kheira;
- Guichet, Agnes;
- Genin, Emmanuelle;
- Litzler, Julie;
- Gesny, Roselyne;
- Bonnefont, Jean‐Paul;
- Jonard, Laurence;
- Bonnet, Crystel;
- Cartault, François;
- Gherbi, Souad;
- Aissa, Ines Ben;
- Digeon, Fabienne Saint James;
- Loundon, Natalie;
- Rouillon, Isabelle;
- Garabedian, Eréa‐Nöel;
- Denoyelle, Françoise;
- Jacquemont, Marie‐Line;
- Darcel, Françoise
Publication type:
Article
Efficiency of Melatonin as Compared to Pentobarbital for Audiometry Brainstem Response in Children With Associated Disorders.
Published in:
American Journal of Audiology, 2016, v. 25, n. 3, p. 206, doi. 10.1044/2016_AJA-15-0075
By:
- Guerlain, Joanne;
- Paul, Antoine;
- Rouillon, Isabelle;
- Parodi, Marine;
- Garabedian, Erea Noel;
- Loundon, Natalie
Publication type:
Article
Pediatric Cochlear Implantation in Residual Hearing Candidates.
Published in:
Annals of Otology, Rhinology & Laryngology, 2015, v. 124, n. 6, p. 443, doi. 10.1177/0003489414566121
By:
- Gratacap, Maxime;
- Thierry, Briac;
- Rouillon, Isabelle;
- Marlin, Sandrine;
- Garabedian, Noel;
- Loundon, Natalie
Publication type:
Article
Cochlear Implant Failure and Revision Surgery in Pediatric Population.
Published in:
Annals of Otology, Rhinology & Laryngology, 2015, v. 124, n. 3, p. 227, doi. 10.1177/0003489414551931
By:
- Blanchard, Marion;
- Thierry, Briac;
- Glynn, Fergal;
- De Lamaze, Aude;
- Garabédian, Erea Noël;
- Loundon, Natalie
Publication type:
Article
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Published in:
Human Mutation, 2017, v. 38, n. 5, p. 581, doi. 10.1002/humu.23206
By:
- Issa, Sarah;
- Bondurand, Nadege;
- Faubert, Emmanuelle;
- Poisson, Sylvain;
- Lecerf, Laure;
- Nitschke, Patrick;
- Deggouj, Naima;
- Loundon, Natalie;
- Jonard, Laurence;
- David, Albert;
- Sznajer, Yves;
- Blanchet, Patricia;
- Marlin, Sandrine;
- Pingault, Veronique
Publication type:
Article
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Published in:
Human Mutation, 2016, v. 37, n. 12, p. 1354, doi. 10.1002/humu.23120
By:
- Lerat, Justine;
- Jonard, Laurence;
- Loundon, Natalie;
- Christin‐Maitre, Sophie;
- Lacombe, Didier;
- Goizet, Cyril;
- Rouzier, Cécile;
- Maldergem, Lionel;
- Gherbi, Souad;
- Garabedian, Eréa‐Nöel;
- Bonnefont, Jean‐ Paul;
- Touraine, Philippe;
- Mosnier, Isabelle;
- Munnich, Arnold;
- Denoyelle, Françoise;
- Marlin, Sandrine
Publication type:
Article
Unilateral Sensorineural Hearing Loss: Medical Context and Etiology.
Published in:
2017
By:
- Paul, antoine;
- Marlin, Sandrine;
- Parodi, Marine;
- Rouillon, Isabelle;
- Guerlain, Joanne;
- Pingault, Véronique;
- Couloigner, Vincent;
- Garabedian, Erea Noel;
- Denoyelle, Françoise;
- Loundon, Natalie
Publication type:
journal article
Long‐term outcomes of cartilage tympanoplasty in 139 ears in children.
Published in:
Clinical Otolaryngology, 2021, v. 46, n. 6, p. 1395, doi. 10.1111/coa.13801
By:
- Simon, François;
- Thierry, Briac;
- Rabeony, Tioka;
- Verrier, Florian;
- Elie, Caroline;
- Loundon, Natalie;
- Leboulanger, Nicolas;
- Couloigner, Vincent;
- Garabedian, Erea‐Noël;
- Denoyelle, Françoise
Publication type:
Article

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