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TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd
Aurore Morlon
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Arnold Munnich
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Asma Smahi
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hal-04138562v1
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Disabled early recruitment of antioxidant defenses in Friedreich's ataxia
Karine Chantrel-Groussard
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Vanna Geromel
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Hélène Puccio
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Michel Koenig
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Arnold Munnich
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et al.
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hal-04093208v1
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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families
Valérie Cormier-Daire
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Céline Huber
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Geneviève Baujat
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R Caumes
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Honorine Kayirangwa
,
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First International Cilia in Development and Disease Scientific Conference, pp.O4
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Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies
Marie‐céline François-Heude
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Elise Lebigot
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Emmanuel Roze
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Marie Thérèse Abi Warde
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Claude Cances
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hal-03806206v1
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Correction of Fatty Acid Oxidation in Carnitine Palmitoyl Transferase 2-Deficient Cultured Skin Fibroblasts by Bezafibrate
Fatima Djouadi
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Jean-Paul Bonnefont
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Laure Thuillier
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Véronique Droin
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Noman Khadom
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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
Johanne Dubail
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Céline Huber
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Sandrine Chantepie
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Stephan Sonntag
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Beyhan Tuysuz
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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations
Jorge Diaz
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Xavier Gérard
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Michel-Boris Emerit
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Julie Areias
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David Geny
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hal-03002603v1
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Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition
Marlène Rio
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Valérie Malan
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Sarah Boissel
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Annick Toutain
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Ghislaine Royer
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hal-02044698v1
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Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.
Oscar Hernández-Hernández
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Céline Guiraud-Dogan
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Géraldine Sicot
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Aline Huguet
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Sabrina Luilier
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Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene
Isabelle Perrault
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Sophie Saunier
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Sylvain Hanein
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Emile Filhol
,
Albane A. Bizet
,
et al.
First International Cilia in Development and Disease Scientific Conference, pp.O28
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Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients' Cells Lacking Its Components
Jean Bastin
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Flore Aubey
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Agnès Rötig
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Arnold Munnich
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Fatima Djouadi
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inserm-02896255v1
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Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts
Fatima Djouadi
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Jean-Paul Bonnefont
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Arnold Munnich
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Jean Bastin
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Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency
Giulia Barcia
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Sonia Khirani
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Alessandro Amaddeo
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Zahra Assouline
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Alessandra Pennisi
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Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis.
Niklas Darin
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Norman Kadhom
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Jean-Jacques Brière
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Dominique Chretien
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Cécile M. Bébéar
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ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.
Christelle Golzio
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Emmanuelle Havis
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Philippe Daubas
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Gregory Nuel
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Candice Babarit
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hal-00686361v1
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Searching for secondary findings: considering actionability and preserving the right not to know
Bertrand Isidor
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Sophie Julia
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Pascale Saugier-Veber
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Paul-Loup Weil-Dubuc
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Stephane Bezieau
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et al.
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hal-02904506v1
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New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling
Laurent Schibler
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Linda Gibbs
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Catherine Benoist-Lasselin
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Charles Decraene
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Jelena Martinovic
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hal-01193364v1
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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Hisham Megahed
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Michaël Nicouleau
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Giulia Barcia
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Daniel Medina-Cano
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Karine Siquier-Pernet
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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Ekin Ucuncu
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Karthyayani Rajamani
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Miranda Wilson
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Daniel Medina-Cano
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Nami Altin
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hal-03151207v1
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The place of social sexing' in medicine and science
Pierre F. Ray
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Arnold Munnich
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Israël Nisand
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René Frydman
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Michel Vekemans
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hal-04149524v1
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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Soumaya Mougou-Zerelli
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Sophie Thomas
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Emmanuelle Szenker
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Sophie Audollent
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Nadia Elkhartoufi
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Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
Yannick Allanore
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Mohamad Saad
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Philippe Dieudé
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Jérôme Avouac
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Jorg H. W. Distler
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inserm-00714204v1
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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
Laurence Faivre
,
J. R. Gorlin
,
M. K. Wirtz
,
Maurice Godfrey
,
N. Dagoneau
,
et al.
Journal of Medical Genetics, 2003, 40 (1), pp.34-6
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inserm-00143439v1
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New insights into genotype-phenotype correlation for GLI3 mutations
Florence Démurger
,
Amale Ichkou
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Soumaya Mougou-Zerelli
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Martine Le Merrer
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Géraldine Goudefroye
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et al.
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hal-01064583v1
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Pregnancy in MNGIE: a clinical and metabolic honeymoon
Pauline Pappalardo
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Jean‐françois Benoist
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Bridget Bax
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Clarisse Carra‐dallière
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Cecilia Marelli
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et al.
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hal-02995577v1
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MOLECULAR SCREENING OF ADAMTSL2 GENE IN 33 PATIENTS REVEALS THE GENETIC HETEROGENEITY OF GELEOPHYSIC DYSPLASIA
Slimane Allali
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Carine Le Goff
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Isabelle Pressac-Diebold
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Gwendolyne Pfenning
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Clã©mentine Mahaut
,
et al.
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hal-00614843v1
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Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations
Charles-Joris Roux
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Giulia Barcia
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Manuel Schiff
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Marie Sissler
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Raphaël Levy
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et al.
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hal-03365760v1
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Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation
David Genevieve
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Delphine Héron
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Vincent El Ghouzzi
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Catherine Prost-Squarcioni
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Martine Le Merrer
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et al.
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hal-02342690v1
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The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia
Cybel Mehawej
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Agnès Delahodde
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Laurence Legeai-Mallet
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Valérie Delague
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Nabil Kaci
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et al.
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hal-01680942v1
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Epithelial barrier dysfunction in desmoglein-1 deficiency
Laura Polivka
,
Smaïl Hadj-Rabia
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Elodie Bal
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Stéphanie Leclerc-Mercier
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Marine Madrange
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et al.
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hal-02052255v1
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