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The European research collaboration for Children's Interstitial Lung Disease (ChILDEU) ERS Clinical Research Collaboration
Steve Cunningham
,
Carlee Gilbert
,
Nico Schwerk
Journal articles
inserm-04041102v1
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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
Clémence Jacquin
,
Emilie Landais
,
Céline Poirsier
,
Alexandra Afenjar
,
Ahmad Akhavi
,
et al.
Journal articles
hal-03899297v1
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Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients
Lucas Bouys
,
Anna Vaczlavik
,
Anne Jouinot
,
Patricia Vaduva
,
Stéphanie Espiard
,
et al.
Journal articles
hal-03982784v1
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How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome
Mathias Schwartz
,
Damien Sternberg
,
Sandra Whalen
,
Alexandra Afenjar
,
Arnaud Isapof
,
et al.
Journal articles
inserm-03851530v1
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A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation
Elma El Khouri
,
Farah Diab
,
Camille Louvrier
,
Eman Assrawi
,
Aphrodite Daskalopoulou
,
et al.
Journal articles
inserm-04148971v1
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Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis
Tifenn Desroziers
,
Grégoire Prévot
,
Aurore Coulomb
,
Valérie Nau
,
Florence Dastot-Le Moal
,
et al.
Journal articles
inserm-04148844v1
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Diagnostic workup of childhood interstitial lung disease
Nadia Nathan
,
Matthias Griese
,
Katarzyna Michel
,
Julia Carlens
,
Carlee Gilbert
,
et al.
Journal articles
inserm-04016668v1
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