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DCDC2 Mutations Cause Neonatal Sclerosing CholangitisDUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles[Post-diarrheal haemolytic uremic syndrome: when shall we consider it? Which follow-up?].[Inflammatory pseudotumor of the larynx in children].Mutations in CECR1 associated with a neutrophil signature in peripheral bloodNovel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.Vascular development and differentiation during human liver organogenesis.Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.Epstein-Barr virus-associated smooth muscle tumors in a composite tissue allograft and a pediatric liver transplant recipient.Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.A novel morphological approach to gonads in disorders of sex development.Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.[Macrophage activation syndrome and autoimmunity due to visceral leishmaniasis].[Lung metastases of epithelioid sarcoma revealed by bilateral spontaneous pneumothorax: a pathological diagnosis].Long-term treatment reduction and steroids withdrawal in children with autoimmune hepatitis: a single centre experience on 55 children.It sounds like a relapsing polychondritis.A botryoid rhabdomyosarcoma diagnosed as a choledochal cyst.[Thymic carcinoid tumor revealed by a Cushing's syndrome: usefulness of positron emission tomography].Primary desmoplastic small round cell tumor of the kidney: a case report in a 14-year-old girl with molecular confirmation.Deleterious impact of C3d-binding donor-specific anti-HLA antibodies after pediatric liver transplantation.The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones.Immunohistochemical expression of p57 in placental vascular proliferative disorders of preterm and term placentas.Assisted Reproductive Technologies and imprinting disorders: Results of a study from a French congenital malformations registryHomozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemiaNouveaux concepts dans l’hémochromatose périnataleSecond Malignant Neoplasms Following Childhood Cancer: A Study of a Recent Cohort (1987–2004) from the Childhood Cancer Registry of The Rhône-Alpes Region (ARCERRA) in FranceTumeur stromale gastro-intestinale chez l’enfantTumeurs stromales gastro-intestinales pédiatriques : à propos de trois cas et revue de la littératureGastrointestinal lymphoid pseudotumoral hyperplasia: report of four pediatric casesUnexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric casesRelationship between vascular development and vascular differentiation during liver organogenesis in humans[Child pleuropulmonary blastoma]Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemiaPulmonary Infantile Hemangioma Mimicking a Congenital Cystic Adenomatoid MalformationDefects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
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հետազոտող
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name
Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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type
label
Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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altLabel
Sophie Collardeau Frachon
@en
Sophie Collardeau-Frachon
@en
Sophie Frachon Collardeau
@en
Sophie Frachon
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Sophie Frachon-Collardeau
@en
Sophie Franchon
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prefLabel
Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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Sophie Collardeau-Frachon
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P1053
H-2000-2014
P106
P21
P31
P3829
P496
0000-0001-8604-1089