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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Laurence Desmyter
,
Michella Ghassibé
,
Nicole Revencu
,
Odile Boute
,
M. Lees
,
et al.
Journal articles
inserm-00538240v1
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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.
Journal articles
hal-03662709v1
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Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates
E. Szenker-Ravi
,
T. Ott
,
M. Khatoo
,
A. M. De Bellaing
,
W. X. Goh
,
et al.
Journal articles
inserm-03752860v1
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BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy
Sébastien Heritier
,
Jean-François Emile
,
Mohamed-Aziz Barkaoui
,
Caroline Thomas
,
Sylvie Fraitag
,
et al.
Journal articles
inserm-02304878v1
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Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype
Pauline Dontaine
,
Elisa Kottos
,
Martine Dassonville
,
Ovidiu Balasel
,
Véronique Catros
,
et al.
Journal articles
hal-03038235v1
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Contribution des mutations du gène GHRHR aux déficits isolés en hormone de croissance non syndromiques dans une large cohorte de 313 patients indépendants
Sabrina Belkacem
,
Enzo Cohen
,
Soumeya Fedala
,
Nathalie Collot
,
Eliane Khallouf
,
et al.
Assises de Génétique Humaine et Médicale, Jan 2018, Nantes (FR), France
Conference poster
inserm-03952757v1
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Efavirenz-based simplification after successful early lopinavir-boosted-ritonavir-based therapy in HIV-infected children in Burkina Faso and Côte d’Ivoire: the MONOD ANRS 12206 non-inferiority randomised trial
Désiré Lucien Dahourou
,
Madeleine Amorissani-Folquet
,
Karen Malateste
,
Clarisse Amani-Bosse
,
Malik Coulibaly
,
et al.
Journal articles
inserm-01512561v1
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Interpersonal Relatedness and Non-suicidal Self-Injurious Behaviors in Female Adolescents With Borderline Personality Disorder
Fabian Guénolé
,
Solène Spiers
,
Ludovic Gicquel
,
Véronique Delvenne
,
Marion Robin
,
et al.
Journal articles
hal-03487861v1
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Vemurafenib for Refractory Multisystem Langerhans Cell Histiocytosis in Children: An International Observational Study
Jean Donadieu
,
Islam Amine Larabi
,
Mathilde Tardieu
,
Johannes Visser
,
Caroline Hutter
,
et al.
Journal articles
inserm-02299433v1
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Borderline personality disorder and adolescent suicide attempt: the mediating role of emotional dysregulation
Bojan Mirkovic
,
Véronique Delvenne
,
Marion Robin
,
Alexandra Pham-Scottez
,
Maurice Corcos
,
et al.
Journal articles
inserm-03330870v1
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Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients
Enzo Cohen
,
Sabrina Belkacem
,
Soumeya Fedala
,
Nathalie Collot
,
Eliane Khallouf
,
et al.
57th Annual Meeting of the European Society for Paediatric Endocrinology, Sep 2018, Athenes, Grece, Greece
Conference papers
inserm-03934333v1
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Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia
Emilie Lesport
,
Alina Ferster
,
Armand Biver
,
Benoit Roch
,
Nadia Vasquez
,
et al.
Journal articles
pasteur-02867459v1
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Early transient hypoglycemia is associated with increased albumin nitration in the preterm infant.
Jean-Louis Wayenberg
,
Catia Cavedon
,
Chiraz Ghaddhab
,
Nicolas Lefèvre
,
Serge P. Bottari
Journal articles
inserm-00696207v1
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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.
Journal articles
hal-03477017v1
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Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
Olivia Boyer
,
Geneviève Benoit
,
Olivier Gribouval
,
Fabien Nevo
,
Audrey Pawtowski
,
et al.
Journal articles
inserm-00497773v1
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SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis
Sophie Lambert
,
Matthieu Peycelon
,
Dinane Samara-Boustani
,
Capucine Hyon
,
Laurence Dumeige
,
et al.
Journal articles
inserm-03790574v1
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