ER
Ranza, Emmanuelle Nathalie
Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
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Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms | Frontiers in immunology | 2022 | 188 | 75 | |||
Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | 2021 | 224 | 159 | |||
Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCT | Frontiers in immunology | 2021 | 185 | 61 | |||
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns | Genetics in Medicine | 2021 | 166 | 0 | |||
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics | 2020 | 307 | 1 | |||
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics | 2020 | 391 | 197 | |||
SCN8A heterozygous variants are associated with anoxic-epileptic seizures | American Journal of Medical Genetics. A | 2020 | 169 | 1 | |||
Génétique des troubles auditifs chez l'enfant | Revue médicale suisse | 2019 | 315 | 214 | |||
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation | Neuropediatrics | 2019 | 229 | 0 | |||
A 19-month-old boy with refractory cervical adenitis | Pediatric Infectious Disease Journal | 2019 | 318 | 1 | |||
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report | Developmental Medicine and Child Neurology | 2018 | 276 | 1 | |||
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics online | 2018 | 21 | 6 | |||
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother | Journal of Human Genetics | 2018 | 373 | 220 | |||
Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma | Journal of Pediatric Hematology / Oncology | 2018 | 415 | 1 | |||
A triad of infantile spasms, nystagmus and a focal tonic seizure | Epileptic Disorders | 2018 | 335 | 1 | |||
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | 2017 | 474 | 2 | |||
Le pouvoir diagnostique de l'exome dans les troubles du développement et/ou les épilepsies : étude de 100 cas | 2017 | 600 | 3 | ||||
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects | Journal of Medical Genetics | 2017 | 397 | 1 | |||
Maladie de Rendu-Osler-Weber : importance d'une prise en charge multidisciplinaire | Revue médicale suisse | 2016 | 548 | 1 | |||
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation | Cerebellum | 2016 | 606 | 4 | |||
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | 2016 | 632 | 210 |