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Publications by Anne-Sophie Denommé-Pichon
A Novel Mutation in the TM6 Domain of GABBR2 Leads to a Rett-Like Phenotype
Annals of Neurology
Neurology
Erratum To: Haploinsufficiency of the E3 Ubiquitin-Protein Ligase Gene TRIP12 Causes Intellectual Disability With or Without Autism Spectrum Disorders, Speech Delay, and Dysmorphic Features
Human Genetics
Genetics
Related publications
Novel Epilepsy Phenotype Associated to a Known SCN8A Mutation
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
231 a Mutation in the SAM Domain of P63 Causing a Mild Ectodermal Dysplasia Phenotype
Journal of Investigative Dermatology
Biochemistry
Dermatology
Cell Biology
Molecular Biology
Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier
Movement Disorders Clinical Practice
Neurology
A Novel p.Val244Leu Mutation in MFN2 Leads to Charcot-Marie-Tooth Disease Type 2
Italian Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Rett Syndrome Without MECP2 Mutation in a Pakistani Girl
Life and Science
A Novel R486Q Mutation in BMPR1B Resulting in Either a Brachydactyly Type C/Symphalangism-Like Phenotype or Brachydactyly Type A2
European Journal of Human Genetics
Genetics
a Mutation in the FHA Domain of Coprinus Cinereus Nbs1 Leads to Spo11-Independent Meiotic Recombination and Chromosome Segregation
G3: Genes, Genomes, Genetics
Medicine
Genetics
Molecular Biology
Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation
Child Neurology Open
A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact With Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects
PLoS ONE
Multidisciplinary
