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Nature Genetics|September 6, 2011
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humansLoïc de Pontual, Evelyn Yao, Patrick Callier, et al.
Nature Genetics|February 12, 2008
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)David Geneviève, Valérie Proulle, Bertrand Isidor, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|June 9, 2020
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset OsteoarthritisValentin Ruault, Kevin Yauy, Aurélie Fabre, et al.
Human Molecular Genetics|October 4, 2017
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotypeGaël Manes, Willy Joly, Thomas Guignard, et al.
Annals of the Rheumatic Diseases|December 15, 2016
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)Sylvie Grandemange, Elodie Sanchez, Pascale Louis-Plence, et al.
Clinical Genetics|December 28, 2020
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohortNicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, et al.
Neuroimage. Clinical|December 1, 2018
Anatomical and functional abnormalities on MRI in kabuki syndromeJennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, et al.
Human Molecular Genetics|August 20, 2004
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathyClaire L Navarro, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, et al.
European Journal of Human Genetics : EJHG|June 21, 2022
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspectiveConstance F Wells, Guilaine Boursier, Kevin Yauy, et al.
Genes|August 6, 2021
No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation FamiliesMarion Imbert-Bouteille, Carole Corsini, Marie-Christine Picot, et al.
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