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Laurine Perrin

Observed names: L. Perrin, PERRIN, Laurine
ORCID: 0009-0004-3747-1743
Observed ORCID: 0009-0004-3747-1743
OpenAlex ID: A5082770000
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias: HUMAN MUTATION
2016 · Cecilia Marelli, Claire Guissart, et al. · Human Mutation · 44
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Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy
2020 · Gemma L. Carvill, Katherine L. Helbig, et al. · Human Mutation · 41
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
2023 · Thomas Husson, François Lecoquierre, et al. · European Journal of Human Genetics · 37
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The different clinical facets of SYN1-related neurodevelopmental disorders
2022 · Ilaria Parenti, Elsa Leitão, et al. · Frontiers in Cell and Developmental Biology · 33
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PNPLA2 mutation: A paediatric case with early onset but indolent course
2013 · Laurine Perrin, Léonard Féasson, et al. · Neuromuscular Disorders · 20
Lethal form of spinocerebellar ataxia type 7 with early onset in childhood
2017 · G. Gousse, H. Patural, et al. · Archives de Pédiatrie · 16
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
2023 · Fanny Mochel, Domitille Gras, et al. · Neurology · 14
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New insights into CC2D2A-related Joubert syndrome
2022 · Madeleine Harion, Leila Qebibo, et al. · Journal of Medical Genetics · 6
Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort
2025 · Lorenzo Menicucci, Moussa Mane, et al. · European Journal of Paediatric Neurology · 2
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The different clinical facets of SYN1-related neurodevelopmental disorders
2022 · Ilaria Parenti, Elsa Leitão, et al. · Newcastle University ePrints (Newcastle Univesity)
Traitement par traction d’une fracture diaphysaire humérale, dans les suites de l’exérèse chirurgicale d’un ostéochondrome, chez un enfant en état pauci relationnel
2011 · A. Anselmetti, L. Perrin, et al. · Annals of Physical and Rehabilitation Medicine
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Skin traction for humeral fracture healing, after surgical resection of an osteochondroma, in a case of child with persistent vegetative state
2011 · A. Anselmetti, L. Perrin, et al. · Annals of Physical and Rehabilitation Medicine
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Works count: 13
Citation count: 213
H-index: 7
I10-index: 7
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