Vincent Delorme Inserm U1019 - CNRS UMR 8024, Institut Pasteur de Lille Université de Lille Biography Publications Institution JoVE Articles Vincent Delorme has not added a biography. If you are Vincent Delorme and would like to personalize this page please email our Author Liaison for assistance. Publications New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms The Journal of Biological Chemistry. Nov, 2013 | Pubmed ID: 24108130 Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome The Journal of Pediatrics. Sep, 2013 | Pubmed ID: 23535010 Mutations in WNT10A Are Frequently Involved in Oligodontia Associated with Minor Signs of Ectodermal Dysplasia American Journal of Medical Genetics. Part A. Apr, 2013 | Pubmed ID: 23401279 Possible Association Between Complex Congenital Heart Defects and 11p15 Hypomethylation in Three Patients with Severe Silver-Russell Syndrome American Journal of Medical Genetics. Part A. Mar, 2013 | Pubmed ID: 23401077 Sensorineural Hearing Loss in OPA1-linked Disorders Brain : a Journal of Neurology. Jul, 2013 | Pubmed ID: 23384603 A Novel Microdeletion Syndrome at 3q13.31 Characterised by Developmental Delay, Postnatal Overgrowth, Hypoplastic Male Genitals, and Characteristic Facial Features Journal of Medical Genetics. Feb, 2012 | Pubmed ID: 22180640 What Can We Learn from Old Microdeletion Syndromes Using Array-CGH Screening? Clinical Genetics. Jul, 2012 | Pubmed ID: 21722100 Mirror Extreme BMI Phenotypes Associated with Gene Dosage at the Chromosome 16p11.2 Locus Nature. Oct, 2011 | Pubmed ID: 21881559 Genomic and Clinical Characteristics of Six Patients with Partially Overlapping Interstitial Deletions at 10p12p11 European Journal of Human Genetics : EJHG. Sep, 2011 | Pubmed ID: 21522184 Clinical and Molecular Characterization of 17q21.31 Microdeletion Syndrome in 14 French Patients with Mental Retardation European Journal of Medical Genetics. Mar-Apr, 2011 | Pubmed ID: 21094706 IRF6 Screening of Syndromic and a Priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign Molecular Syndromology. 2010 | Pubmed ID: 21045959 Further Delineation of the 17p13.3 Microdeletion Involving YWHAE but Distal to PAFAH1B1: Four Additional Patients European Journal of Medical Genetics. Sep-Oct, 2010 | Pubmed ID: 20599530 A New Highly Penetrant Form of Obesity Due to Deletions on Chromosome 16p11.2 Nature. Feb, 2010 | Pubmed ID: 20130649 Clinical Manifestations in Patients with SOS1 Mutations Range from Noonan Syndrome to CFC Syndrome Journal of Human Genetics. 2008 | Pubmed ID: 18651097 Twenty-six Novel EFNB1 Mutations in Familial and Sporadic Craniofrontonasal Syndrome (CFNS) Human Mutation. Aug, 2005 | Pubmed ID: 15959873 The Mitochondrial DNA G13513A MELAS Mutation in the NADH Dehydrogenase 5 Gene is a Frequent Cause of Leigh-like Syndrome with Isolated Complex I Deficiency Journal of Medical Genetics. Mar, 2003 | Pubmed ID: 12624137 [Isolated Bilateral Dysplasia of the Hip in Children] Archives De Pédiatrie : Organe Officiel De La Sociéte Française De Pédiatrie. Dec, 1995 | Pubmed ID: 8547992 Prenatal Diagnosis of Metatropic Dwarfism Prenatal Diagnosis. Aug, 1995 | Pubmed ID: 7479594 Yüksek Verimli/Yüksek İçerikli Taramaya Uyarlanmış Hücre İçi Mikobakterilerin Nicelleştirilmesi için Mikroskobik Fenotipik Bir Tahlil Christophe. J Queval*1, Ok-Ryul Song*1, Vincent Delorme*1, Raffaella Iantomasi1, Romain Veyron-Churlet1, Nathalie Deboosère1, Valérie Landry1, Alain Baulard1, Priscille Brodin1 1Inserm U1019 - CNRS UMR 8024, Institut Pasteur de Lille, Université de Lille JoVE 51114 Imunologia e Infecção
Yüksek Verimli/Yüksek İçerikli Taramaya Uyarlanmış Hücre İçi Mikobakterilerin Nicelleştirilmesi için Mikroskobik Fenotipik Bir Tahlil Christophe. J Queval*1, Ok-Ryul Song*1, Vincent Delorme*1, Raffaella Iantomasi1, Romain Veyron-Churlet1, Nathalie Deboosère1, Valérie Landry1, Alain Baulard1, Priscille Brodin1 1Inserm U1019 - CNRS UMR 8024, Institut Pasteur de Lille, Université de Lille JoVE 51114 Imunologia e Infecção