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List of works by Sophie Collardeau-Frachon

A botryoid rhabdomyosarcoma diagnosed as a choledochal cyst

scientific article published on 5 July 2013

A novel morphological approach to gonads in disorders of sex development

scientific article published on 29 July 2016

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder

scientific article published on 22 April 2016

Assisted Reproductive Technologies and imprinting disorders: Results of a study from a French congenital malformations registry

article

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

scientific journal article

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

scientific article (publication date: 20 August 2013)

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

scientific article published on 03 September 2019

Deleterious impact of C3d-binding donor-specific anti-HLA antibodies after pediatric liver transplantation

scientific article published on 3 August 2017

Epstein-Barr virus-associated smooth muscle tumors in a composite tissue allograft and a pediatric liver transplant recipient.

scientific article published on 27 August 2013

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases

scientific article published on 13 June 2016

Gastrointestinal lymphoid pseudotumoral hyperplasia: report of four pediatric cases

scientific article published on 01 September 2008

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia

scientific article published on 16 May 2014

Immunohistochemical expression of p57 in placental vascular proliferative disorders of preterm and term placentas.

scientific article

Inflammatory pseudotumor of the larynx in children

scientific article

It sounds like a relapsing polychondritis

scientific article

Long-term treatment reduction and steroids withdrawal in children with autoimmune hepatitis: a single centre experience on 55 children

scientific article published in December 2009

Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia.

scientific article published in April 2014

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia

scientific article published on 27 February 2014

Lung metastases of epithelioid sarcoma revealed by bilateral spontaneous pneumothorax: a pathological diagnosis

scientific article published on 10 April 2010

Macrophage activation syndrome and autoimmunity due to visceral leishmaniasis

scientific article published on 22 January 2015

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

scientific article

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

scientific article published on 03 March 2019

Nouveaux concepts dans l’hémochromatose périnatale

scientific article published on 26 May 2012

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

scientific article

Post-diarrheal haemolytic uremic syndrome: when shall we consider it? Which follow-up?

scientific article

Primary desmoplastic small round cell tumor of the kidney: a case report in a 14-year-old girl with molecular confirmation

scientific article published in July 2007

Pulmonary Infantile Hemangioma Mimicking a Congenital Cystic Adenomatoid Malformation

scientific article published on 26 March 2019

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

scientific article

Relationship between vascular development and vascular differentiation during liver organogenesis in humans

article

Second 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 France

article

The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones.

scientific article published on 14 February 2018

Thymic carcinoid tumor revealed by a Cushing's syndrome: usefulness of positron emission tomography

scientific article

Tumeur stromale gastro-intestinale chez l’enfant

scientific article published on 01 December 2004

Tumeurs stromales gastro-intestinales pédiatriques : à propos de trois cas et revue de la littérature

scientific article published on 26 May 2010

Unexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric cases

scientific article published on 07 June 2007

Vascular development and differentiation during human liver organogenesis

scientific article published on June 2008

[Child pleuropulmonary blastoma]

scientific article published on 01 September 2010

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