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European Journal of Pediatrics|April 11, 2013
Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructureChristelle Vallet, Estelle Escudier, Françoise Roudot-Thoraval, et al.
Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of WASOG|September 19, 2022
The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literatureMarie Legendre, Xavier Darde, Marion Ferreira, et al.
Helicobacter|February 15, 2021
"Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france"Carole Lacout, Léa Savey, Rim Bourguiba, et al.
Pediatric Neurology|March 18, 2014
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern IsraelAdi Mory, Efrat Dagan, Ishai Shahor, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|January 15, 2018
Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal HypospadiasMatthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, et al.
European Journal of Human Genetics : EJHG|June 28, 2023
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosisTifenn Desroziers, Grégoire Prévot, Aurore Coulomb, et al.
Rheumatology (Oxford, England)|March 14, 2021
Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic reviewJérémie Delaleu, Samuel Deshayes, Francois Rodrigues, et al.
Plos One|September 12, 2008
Matrix metalloproteinase gene polymorphisms and bronchopulmonary dysplasia: identification of MMP16 as a new player in lung developmentAlice Hadchouel, Fabrice Decobert, Marie-Laure Franco-Montoya, et al.
American Journal of Human Genetics|April 10, 2012
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndromeAdi Mory, Efrat Dagan, Barbara Illi, et al.
Rheumatology (Oxford, England)|May 31, 2022
Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndromeEman Assrawi, Camille Louvrier, Elma El Khouri, et al.
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