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European Journal of Medical Genetics|September 20, 2015
Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataractsLaure Raymond, Bruno Francou, François Petit, et al.Human Reproduction (Oxford, England)|March 15, 2012
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system developmentJacques Young, Corinne Metay, Jerome Bouligand, et al.Journal of Neurology, Neurosurgery, and Psychiatry|October 24, 2023
Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriersDiane Beauvais, Céline Labeyrie, Cécile Cauquil, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 27, 2020
Hyperparathyroidism in Patients With X-Linked HypophosphatemiaAnne-Lise Lecoq, Philippe Chaumet-Riffaud, Anne Blanchard, et al.Neurogenetics|August 18, 2021
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective studyAndoni Echaniz-Laguna, Cecilia Altuzarra, Alain Verloes, et al.European Journal of Neurology|August 7, 2020
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutationsD Safka Brozkova, T Stojkovic, J Haberlová, et al.Circulation Research|September 6, 2014
Tbx1 coordinates addition of posterior second heart field progenitor cells to the arterial and venous poles of the heartM Sameer Rana, Magali Théveniau-Ruissy, Christopher De Bono, et al.Applied and Environmental Microbiology|January 7, 2003
Recombinant environmental libraries provide access to microbial diversity for drug discovery from natural productsSophie Courtois, Carmela M Cappellano, Maria Ball, et al.The Journal of Clinical Endocrinology and Metabolism|November 2, 2022
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder DiseaseMarie-Noëlle Méaux, Jérôme Harambat, Anya Rothenbuhler, et al.Mitochondrion|May 18, 2026
Challenging mtDNA tRNA variant guidelines: Emphasizing single-cell analysis through four novel variantsProsper Chloé, Zereg Elamine, Chaussenot Annabelle, et al.Pageof 10