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RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder

American journal of medical genetics. Part A, 2023, Vol.191 (6), p.1664-1668

2023

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Meningoradiculitis due to varicella zoster virus reactivation in a patient treated with ixekizumab

Annales de dermatologie et de venereologie, 2020, Vol.147 (10), p.667-671

2020

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Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults

Annals of clinical and translational neurology, 2020, Vol.7 (10), p.2052-2056

2020

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Classic Ehlers-Danlos Syndrome: Clinical and Ultrasound Findings

Actas dermo-sifiliograficas, 2020, Vol.111 (1), p.83-85

2020

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CARMIL2-related immunodeficiency manifesting with photosensitivity

Pediatric dermatology, 2020, Vol.37 (4), p.695-697

2020

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Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome

American journal of medical genetics. Part A, 2021, Vol.185 (1), p.208-212

2021

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Multiple familial trichoepitheliomas: Ultrasonographic findings

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI), 2020, Vol.26 (1), p.137-139

2020

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The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy - A case series and review of the literature

Research and practice in thrombosis and haemostasis, 2020, Vol.4 (1), p.106-110

2020

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Anti-glycoprotein VI mediated immune thrombocytopenia: An under-recognized and significant entity?

Research and practice in thrombosis and haemostasis, 2017, Vol.1 (2), p.291-295

2017

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Takotsubo syndrome triggered by acute intermittent porphyria attack: An unusual stressor for catecholamine-induced cardiomyopathy

International journal of cardiology, 2016, Vol.207, p.28-30

2016

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Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome

Annals of hematology, 2015, Vol.94 (12), p.2069-2071

2015

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Diagnostic relevance of optical coherence tomography imaging in aborted acute myocardial infarction with a "Takotsubo component"

International journal of cardiology, 2015, Vol.195, p.123-125

2015

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Takotsubo cardiomyopathy triggered by ischemic injury: When lateralmyocardial infarction precipitate apical ballooning syndrome

International journal of cardiology, 2016, Vol.202, p.858-860

2016

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Verruciform xanthoma associated with reactivation of Epstein-Barr virus

Actas dermo-sifiliograficas, 2013, Vol.104 (5), p.445-446

2013

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Severe FX deficiency caused by a previously unidentified 4-bp deletion compound heterozygous with a large deletion involving FVII and FX genes

Haemophilia : the official journal of the World Federation of Hemophilia, 2012, Vol.18 (2), p.e55-e58

2012

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Early-onset acral basal cell carcinomas in Gorlin syndrome

British Journal of Dermatology, 2014, Vol.171 (5), p.1227-1229

2014

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Luc Descroix, Juan Estrada, José Luis Gonzales Barrios, David Viramontes : La Sierra Madré occidentale, un château d'eau menacé

Revue de Géographie Alpine, 2006, Vol.94 (2), p.115-116

Morel, Alain

2006

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Congenital Cutaneous Hemangioma Causing Cardiac Failure: A Case Report and Review of the Literature

Pediatric Dermatology, 2013, Vol.30 (6), p.e180-e190

2013

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CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

Vascular cell, 2012, Vol.4 (1), p.19-19

2012

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Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease

Clinical genetics, 2009, Vol.75 (2), p.203-206

2009

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R. Favier et A.-M. Granet-Abisset (dir.) : Histoire et mémoire des risques naturels

Revue de Géographie Alpine, 2002, Vol.90 (1), p.95-95

Morel, Alain

2002

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P. Crotti, G. Pignat, A.M. Rachoud-Schneider (dir.) : Premiers hommes dans les Alpes, de 50 000 à 5 000 avant Jésus-Christ

Revue de Géographie Alpine, 2002, Vol.90 (3), p.112-112

Morel, Alain

2002

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Paul Ozenda : Perspectives pour une géobiologie des montagnes

Revue de Géographie Alpine, 2002, Vol.90 (2), p.137-138

Morel, Alain

2002

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Bouveret's syndrome: management and strategy of a rare cause of gastric outlet obstruction

Digestion, 2007, Vol.75 (1), p.17-19

2007

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Isoderivative of deleted chromosome 20 in primary myelofibrosis (PMF) characterized by molecular cytogenetics and array CGH

Annals of hematology, 2009, Vol.88 (11), p.1157-1159

2009

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