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1 . Academic Journal
Primary mitochondrial disorders and mimics: Insights from a large French cohort
저자
by
Cécile Rouzier
;
Emmanuelle Pion
;
Annabelle Chaussenot
;
Céline Bris
;
Samira Ait‐El‐Mkadem Saadi
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)
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7 . Academic Journal
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
저자
by
Adam Jackson
;
Sheng-Jia Lin
;
Elizabeth A. Jones
;
Kate E. Chandler
;
David Orr
, et al.
소스
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Full Text (ScienceDirect)
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7 . Academic Journal
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
저자
by
Christelle M. Durand
;
Chloé Angelini
;
Vincent Michaud
;
Claire Delleci
;
Isabelle Coupry
, et al.
소스
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
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7 . Academic Journal
Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I
저자
by
Franziska Nuber
;
Johannes Schimpf
;
Jean-Paul di Rago
;
Déborah Tribouillard-Tanvier
;
Vincent Procaccio
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
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7 . Academic Journal
Mowat-Wilson syndrome: growth charts
저자
by
Ivan Ivanovski
;
Olivera Djuric
;
Serena Broccoli
;
Stefano Giuseppe Caraffi
;
Patrizia Accorsi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
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7 . Academic Journal
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
저자
by
Aurélien Trimouille
;
Florent Marguet
;
Fanny Sauvestre
;
Eulalie Lasseaux
;
Fanny Pelluard
, et al.
소스
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-7 (2020)
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7 . Academic Journal
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
저자
by
Michael Smith
;
Elizabeth Alexander
;
Ruta Marcinkute
;
Dorica Dan
;
Myfanwy Rawson
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
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7 . Academic Journal
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS
저자
by
Angèle Tingaud‐Sequeira
;
Aurélien Trimouille
;
Sandrine Marlin
;
Estelle Lopez
;
Marie Berenguer
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
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7 . Academic Journal
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes
저자
by
Fenja Markus
;
Chloé Angelini
;
Aurelien Trimouille
;
Gabrielle Rudolf
;
Gaetan Lesca
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
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7 .
First clinical description of a pedigree with complete NAF1 deletion
저자
by
Jean Galtier
;
Sophie Dimicoli-Salazar
;
Aurélien Trimouille
;
Elodie Lainey
;
Patrick Revy
, et al.
소스
Leukemia & Lymphoma
. 64:487-490
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