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Guillain-BarrÉ syndrome subtype diagnosis: A prospective multicentric European study
Peter van den Bergh
,
Francoise Pieret
,
John Woodard
,
Shahram Attarian
,
Aude-Marie Grapperon
et al.
Article dans une revue
hal-02616885v1
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Serum GH concentration must now be expressed in mass units in France like in the rest of the world
Philippe Chanson
,
Rachel Reynaud
,
Régis Coutant
,
Agnès Linglart
,
Marc Nicolino
et al.
Article dans une revue
hal-02616910v1
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Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study
Frederic Castinetti
,
Steven Waguespack
,
Andreas Machens
,
Shinya Uchino
,
Kornelia Lazaar
et al.
Article dans une revue
hal-02616929v1
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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature
Marie-Laure Vuillaume
,
Marie-Pierre Moizard
,
Sylvie Rossignol
,
Edouard Cottereau
,
Sandrine Vonwill
et al.
Article dans une revue
hal-02393015v1
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Prevalence, correlates and impact of pain and cramps in anti-MAG neuropathy: a multicentre European study
Yusuf Rajabally
,
Émilien Delmont
,
F Hiew
,
A-C Aubé-Nathier
,
Aude-Marie Grapperon
et al.
Article dans une revue
hal-02616895v1
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Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
Pascal Pujol
,
Pierre Vande Perre
,
Laurence Faivre
,
Damien Sanlaville
,
Carole Corsini
et al.
Article dans une revue
hal-01870352v1
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Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations
Sarah Castets
,
Florence Roucher-Boulez
,
Alexandru Saveanu
,
Delphine Mallet-Motak
,
Olivier Chabre
et al.
Article dans une revue
hal-03223181v1
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Physiology of PNS axons relies on glycolytic metabolism in myelinating Schwann cells
Marie Deck
,
Gerben van Hameren
,
Graham Campbell
,
Nathalie Bernard-Marissal
,
Jérôme Devaux
et al.
Article dans une revue
hal-03861076v1
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Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome
Antoine Tabarin
,
Guillaume Assie
,
Pascal Barat
,
Fideline Bonnet
,
Jean Francois Bonneville
et al.
Article dans une revue
hal-03604251v1
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Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the international TOSCA study
Anna C. Jansen
,
Elena Belousova
,
Mirjana P. Benedik
,
Tom Carter
,
Vincent Cottin
et al.
Article dans une revue
hal-03603520v1
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ALK-TPM3 rearrangement in adult renal cell carcinoma: Report of a new case showing loss of chromosome 3 and literature review
Yohan Bodokh
,
Damien Ambrosetti
,
Valerie Kubiniek
,
Branwel Tibi
,
Matthieu Durand
et al.
Article dans une revue
hal-02000330v1
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Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex
Antonina Karas
,
Yuwu Jiang
,
Liping Zou
,
Kaifeng Xu
,
Yushi Zhang
et al.
Article dans une revue
hal-03603521v1
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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
Marie Le Roux
,
Magalie Barth
,
Sophie Gueden
,
Patrick Desbordes de Cepoy
,
Alec Aeby
et al.
Article dans une revue
hal-03662709v1
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Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires
Aurélien Perrin
,
Philippe Latour
,
Vincent Procaccio
,
Claude Jardel
,
Mathieu Cerino
et al.
Article dans une revue
hal-01938567v1
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DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.
A. Bruel
,
B. Gerard
,
A. Piton
,
F. Tran Mau-Them
,
A. Sorlin
et al.
Article dans une revue
hal-03131626v1
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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
Sahar Elouej
,
Karim Harhouri
,
Morgane Le Mao
,
Genevieve Baujat
,
Sheela Nampoothiri
et al.
Article dans une revue
hal-02942760v1
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Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures
Julien Denis
,
Nathalie Villeneuve
,
Pierre Cacciagli
,
Cecile Mignon-Ravix
,
Caroline Lacoste
et al.
Article dans une revue
hal-02417625v1
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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
Marie Le Roux
,
Julien van Gils
,
Sophie Gueden
,
Patrick Desbordes de Cepoy
,
Alec Aeby
et al.
Article dans une revue
hal-03477017v1
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Karim Wahbi
,
Rabah Ben Yaou
,
Estelle Gandjbakhch
,
Frédéric Anselme
,
Thomas Gossios
et al.
Article dans une revue
hal-02237297v1
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A roadmap for the Human Developmental Cell Atlas
Muzlifah Haniffa
,
Deanne Taylor
,
Sten Linnarsson
,
Bruce Aronow
,
Gary Bader
et al.
Article dans une revue
hal-03365045v1
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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
Sandra Martin
,
Borja Rodríguez-Herreros
,
Jared Nielsen
,
Clara Moreau
,
Claudia Modenato
et al.
Article dans une revue
hal-01870357v1
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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Caroline Schluth Schluth-Bolard
,
Flavie Diguet
,
Nicolas Chatron
,
Pierre-Antoine Rollat-Farnier
,
Claire Bardel
et al.
Article dans une revue
hal-03863519v1
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Endocrine side-effects of new anticancer therapies: Overall monitoring and conclusions
Frederic Castinetti
,
Frédéric Albarel
,
Françoise Archambeaud
,
Jérôme Bertherat
,
Benjamin Bouillet Bouillet
et al.
Article dans une revue
hal-01979955v1
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