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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 FormsFrontiers in immunology
accessLevelPublic
2022 188 75
Benefits of exome sequencing in children with suspected isolated hearing lossGenes
accessLevelPublic
2021 224 159
Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCTFrontiers in immunology
accessLevelPublic
2021 185 61
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsGenetics in Medicine
accessLevelRestricted
2021 166 0
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiencyHuman Molecular Genetics
accessLevelRestricted
2020 307 1
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenaseHuman Genomics
accessLevelPublic
2020 391 197
SCN8A heterozygous variants are associated with anoxic-epileptic seizuresAmerican Journal of Medical Genetics. A
accessLevelRestricted
2020 169 1
Génétique des troubles auditifs chez l'enfantRevue médicale suisse
accessLevelPublic
2019 315 214
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 MutationNeuropediatrics
accessLevelRestricted
2019 229 0
A 19-month-old boy with refractory cervical adenitisPediatric Infectious Disease Journal
accessLevelRestricted
2019 318 1
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case reportDevelopmental Medicine and Child Neurology
accessLevelRestricted
2018 276 1
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3Human molecular genetics online
accessLevelPublic
2018 21 6
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected motherJournal of Human Genetics
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2018 373 220
Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking LymphomaJournal of Pediatric Hematology / Oncology
accessLevelRestricted
2018 415 1
A triad of infantile spasms, nystagmus and a focal tonic seizureEpileptic Disorders
accessLevelRestricted
2018 335 1
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsyAmerican Journal of Medical Genetics. A
accessLevelRestricted
2017 474 2
Le pouvoir diagnostique de l'exome dans les troubles du développement et/ou les épilepsies : étude de 100 cas
accessLevelRestricted
2017 600 3
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsJournal of Medical Genetics
accessLevelRestricted
2017 397 1
Maladie de Rendu-Osler-Weber : importance d'une prise en charge multidisciplinaireRevue médicale suisse
accessLevelRestricted
2016 548 1
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) MutationCerebellum
accessLevelRestricted
2016 606 4
Experience of a multidisciplinary task force with exome sequencing for Mendelian disordersHuman genomics
accessLevelPublic
2016 632 210
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