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Plos One|February 21, 2012
Genetic and environmental contributions to weight, height, and BMI from birth to 19 years of age: an international study of over 12,000 twin pairsLise Dubois, Kirsten Ohm Kyvik, Manon Girard, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delayCyril Amouroux, Marie Vincent, Patricia Blanchet, et al.
American Journal of Medical Genetics. Part A|September 4, 2015
Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorderAnouck Schneider, Jacques Puechberty, Bee Ling Ng, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 17, 2005
Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis diseaseSuneil Malik, Laurent Abel, Heather Tooker, et al.
European Journal of Human Genetics : EJHG|April 11, 2013
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counselingCarole Corsini, Martin Gencik, Marjolaine Willems, et al.
Plos Neglected Tropical Diseases|January 26, 2013
PARK2 mediates interleukin 6 and monocyte chemoattractant protein 1 production by human macrophagesLouis de Léséleuc, Marianna Orlova, Aurelie Cobat, et al.
European Journal of Human Genetics : EJHG|May 16, 2013
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disabilityFrederic Tran Mau-Them, Marjolaine Willems, Beate Albrecht, 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.
European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.
Circulation. Heart Failure|January 22, 2026
Association Between the 2022 AHA/ACC/HFSA Heart Failure Staging and Cardiovascular and Kidney Outcomes in Patients With Diabetes and Kidney Disease: A Post Hoc Analysis of the SCORED Randomized Controlled TrialAyodele Odutayo, Deepak L Bhatt, Vikas S Sridhar, et al.
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