Emmanuelle Ranza

Emmanuelle Ranza

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Emmanuelle Ranza

Emmanuelle Ranza

Publications by authors named "Emmanuelle Ranza"

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19Publications

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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Am J Hum Genet 2019 Nov 10;105(5):907-920. Epub 2019 Oct 10.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848997PMC
November 2019

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

Neuropediatrics 2019 Oct 21;50(5):308-312. Epub 2019 Jun 21.

Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1055/s-0039-1688410DOI Listing
October 2019

A 19-month-old Boy With Refractory Cervical Adenitis.

Pediatr Infect Dis J 2019 Oct;38(10):1071

From the Department of Pediatrics, Children's Hospital of Geneva.

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http://dx.doi.org/10.1097/INF.0000000000002336DOI Listing
October 2019

[Genetics of hearing disorders in children].

Rev Med Suisse 2019 Oct;15(665):1740-1745

Département des neurosciences cliniques, Service d'oto-rhino-laryngologie et de chirurgie cervico-faciale, HUG, 1211 Genève 14.

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October 2019

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Am J Hum Genet 2019 Jun 9;104(6):1073-1087. Epub 2019 May 9.

Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556908PMC
June 2019

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Am J Hum Genet 2018 10;103(4):568-578

Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174361PMC
October 2018

A triad of infantile spasms, nystagmus and a focal tonic seizure.

Epileptic Disord 2018 Aug;20(4):295-300

Pediatric Neurology Unit, University Hospitals Geneva, Switzerland.

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http://dx.doi.org/10.1684/epd.2018.0984DOI Listing
August 2018

[Genetic aspects of movement disorders of adulthood].

Rev Med Suisse 2018 Apr;14(604):879-882

Medigenome, Swiss Institute of Genomic Medicine et Département de médecine génétique, Université de Genève, 1211 Genève.

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April 2018

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

Am J Med Genet A 2017 Sep 20;173(9):2456-2460. Epub 2017 Jun 20.

Pediatric Neurology Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.38317
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38317DOI Listing
September 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.

Cerebellum 2016 12;15(6):829-831

Division of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, 4, Rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland.

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http://dx.doi.org/10.1007/s12311-015-0749-6DOI Listing
December 2016