ER
Ranza, Emmanuelle Nathalie
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms | Frontiers in immunology |  | 2022 | 306 | 178 | ||
| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | 2021 | 317 | 452 | ||
| Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCT | Frontiers in immunology | | 2021 | 280 | 479 | ||
| NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns | Genetics in Medicine |  | 2021 | 308 | 0 | ||
| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics | | 2020 | 416 | 1 | ||
| Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics | | 2020 | 487 | 325 | ||
| SCN8A heterozygous variants are associated with anoxic-epileptic seizures | American Journal of Medical Genetics. A | | 2020 | 278 | 1 | ||
| Génétique des troubles auditifs chez l'enfant | Revue médicale suisse | | 2019 | 404 | 352 | ||
| Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation | Neuropediatrics | | 2019 | 284 | 0 | ||
| A 19-month-old boy with refractory cervical adenitis | Pediatric Infectious Disease Journal | | 2019 | 384 | 1 | ||
| Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report | Developmental Medicine and Child Neurology | | 2018 | 337 | 1 | ||
| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics | | 2018 | 78 | 90 | ||
| 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 | 461 | 543 | ||
| Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma | Journal of Pediatric Hematology / Oncology | | 2018 | 505 | 1 | ||
| A triad of infantile spasms, nystagmus and a focal tonic seizure | Epileptic Disorders | | 2018 | 415 | 1 | ||
| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | 2017 | 549 | 2 | ||
| Le pouvoir diagnostique de l'exome dans les troubles du développement et/ou les épilepsies : étude de 100 cas | | 2017 | 676 | 3 | |||
| GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects | Journal of Medical Genetics | | 2017 | 464 | 1 | ||
| Maladie de Rendu-Osler-Weber : importance d'une prise en charge multidisciplinaire | Revue médicale suisse | | 2016 | 656 | 1 | ||
| Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation | Cerebellum | | 2016 | 691 | 4 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 747 | 327 |
