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The Journal of Clinical Investigation|March 3, 2006
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short statureJacques Pantel, Marie Legendre, Sylvie Cabrol, et al.Human Mutation|November 26, 2013
Characterization of SLC26A9 in patients with CF-like lung diseaseNaziha Bakouh, Thierry Bienvenu, Annick Thomas, et al.American Journal of Medical Genetics. Part A|April 6, 2006
Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected malesMarion Gérard-Blanluet, Volney Sheen, Kalotina Machinis, et al.Human Molecular Genetics|November 10, 2017
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathiesRebecca Ryan, Marion Failler, Madeline Louise Reilly, et al.Journal of Medical Genetics|November 28, 2019
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesiaSylvain Blanchon, Marie Legendre, Mathieu Bottier, et al.Clinical Endocrinology|January 6, 2015
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarismNabila Fritez, Marie-Laure Sobrier, Hinde Iraqi, et al.Elife|June 21, 2023
A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammationElma El Khouri, Farah Diab, Camille Louvrier, et al.Biology of Reproduction|August 19, 2007
A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axonemeZhibing Zhang, Maimoona A Zariwala, Maha M Mahadevan, et al.Human Mutation|April 28, 2016
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal DisorganizationLudovic Jeanson, Lucie Thomas, Bruno Copin, et al.Advances in Therapy|November 10, 2021
Treatment of Idiopathic Pulmonary Fibrosis with Capsule or Tablet Formulations of Pirfenidone in the Real-Life French RaDiCo-ILD CohortVincent Cottin, Sonia Guéguen, Hilario Nunes, et al.Pageof 13