Contributor Ranza, Emmanuelle Nathalie

List of publications by Ranza, Emmanuelle Nathalie

Items per page

2000

1 - 21 of 21

Title	Published in filter_list	Access level filter_list	OA Policy filter_list	Year	Views filter_list	Downloads filter_list	refresh
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms	Frontiers in immunology			2022	315	227	more_horiz
Benefits of exome sequencing in children with suspected isolated hearing loss	Genes			2021	326	556	more_horiz
Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCT	Frontiers in immunology			2021	290	981	more_horiz
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns	Genetics in Medicine			2021	315	0	more_horiz
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency	Human Molecular Genetics			2020	423	1	more_horiz
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase	Human Genomics			2020	496	374	more_horiz
SCN8A heterozygous variants are associated with anoxic-epileptic seizures	American Journal of Medical Genetics. A			2020	286	1	more_horiz
Génétique des troubles auditifs chez l'enfant	Revue médicale suisse			2019	411	401	more_horiz
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation	Neuropediatrics			2019	291	0	more_horiz
A 19-month-old boy with refractory cervical adenitis	Pediatric Infectious Disease Journal			2019	391	1	more_horiz
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report	Developmental Medicine and Child Neurology			2018	344	1	more_horiz
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3	Human molecular genetics			2018	86	188	more_horiz
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	470	611	more_horiz
Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma	Journal of Pediatric Hematology / Oncology			2018	514	1	more_horiz
A triad of infantile spasms, nystagmus and a focal tonic seizure	Epileptic Disorders			2018	422	1	more_horiz
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy	American Journal of Medical Genetics. A			2017	556	2	more_horiz
Le pouvoir diagnostique de l'exome dans les troubles du développement et/ou les épilepsies : étude de 100 cas				2017	687	3	more_horiz
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects	Journal of Medical Genetics			2017	471	1	more_horiz
Maladie de Rendu-Osler-Weber : importance d'une prise en charge multidisciplinaire	Revue médicale suisse			2016	665	1	more_horiz
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation	Cerebellum			2016	700	4	more_horiz
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Human genomics			2016	756	371	more_horiz