Kolexia
Jonard Laurence
Pharmacien
Hôpital Necker Enfants Malades
Paris, France
57 Activités
196 Followers

Scientifique
Digital
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Activités par an
Expertise
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{{person.topmesh1.name}} Perte d'audition Surdité neurosensorielle Surdité Déficience intellectuelle Maladies pulmonaires Malformations multiples Fibrose pulmonaire Pneumopathies interstitielles Emphysème pulmonaire

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Dernières activités

A new family with an autosomal dominant transmission of GJB6 non-syndromic deafness
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Recurrent benign paroxysmal positional vertigo in DFNB16 patients with biallelic STRC gene deletions
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
Clinical genetics   21 octobre 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
International journal of pediatric otorhinolaryngology   11 juin 2023
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Audiology research   10 mai 2023
Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology   10 février 2023
Synaptopathie due aux variations pathogènes du gène OTOF
HAS Publications   13 décembre 2022
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
European journal of human genetics : EJHG   20 mai 2022
Genotype phenotype correlations of 37 DFNB9 patients with auditory neuropathy and 17 new OTOF pathogenic variants
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022