| Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms | Frontiers in immunology |  | | 2022 | 308 | 194 |
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| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | | 2021 | 319 | 495 |
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| Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCT | Frontiers in immunology | | | 2021 | 282 | 767 |
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| NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns | Genetics in Medicine |  | | 2021 | 310 | 0 |
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| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics | | | 2020 | 418 | 1 |
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| Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics | | | 2020 | 490 | 350 |
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| SCN8A heterozygous variants are associated with anoxic-epileptic seizures | American Journal of Medical Genetics. A | | | 2020 | 280 | 1 |
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| Génétique des troubles auditifs chez l'enfant | Revue médicale suisse | | | 2019 | 406 | 378 |
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| Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation | Neuropediatrics | | | 2019 | 286 | 0 |
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| A 19-month-old boy with refractory cervical adenitis | Pediatric Infectious Disease Journal | | | 2019 | 386 | 1 |
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| Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report | Developmental Medicine and Child Neurology | | | 2018 | 339 | 1 |
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| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics | | | 2018 | 80 | 106 |
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| 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 | 464 | 557 |
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| Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma | Journal of Pediatric Hematology / Oncology | | | 2018 | 507 | 1 |
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| A triad of infantile spasms, nystagmus and a focal tonic seizure | Epileptic Disorders | | | 2018 | 417 | 1 |
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| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | | 2017 | 551 | 2 |
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| Le pouvoir diagnostique de l'exome dans les troubles du développement et/ou les épilepsies : étude de 100 cas | | | | 2017 | 680 | 3 |
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| GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects | Journal of Medical Genetics | | | 2017 | 466 | 1 |
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| Maladie de Rendu-Osler-Weber : importance d'une prise en charge multidisciplinaire | Revue médicale suisse | | | 2016 | 658 | 1 |
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| Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation | Cerebellum | | | 2016 | 693 | 4 |
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| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 749 | 354 |
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