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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation frameworkRyan F Webb, Hannah McCurry, Amanda Girod, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingSophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
Frontiers in Public Health|October 12, 2020
Study Protocol: A Cross-Sectional Examination of Socio-Demographic and Ecological Determinants of Nutrition and Disease Across MadagascarChristopher D Golden, Benjamin L Rice, Hervet J Randriamady, et al.
European Journal of Human Genetics : EJHG|February 3, 2019
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)Aline Chassagne, Aurore Pélissier, Françoise Houdayer, et al.
Human Molecular Genetics|September 5, 2001
The mutational spectrum of human malignant autosomal recessive osteopetrosisC Sobacchi, A Frattini, P Orchard, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|March 18, 2025
Pregnancy and birth outcomes in women with multiple sclerosis: Comparison of the RESPONSE study to the general French populationElisabeth Maillart, Fabien Rollot, Emmanuelle Leray, et al.
Physical Review Letters|March 5, 2021
Shape Changes in the Mirror Nuclei ^{70}Kr and ^{70}SeK Wimmer, W Korten, P Doornenbal, et al.
Human Mutation|November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrumSandra Whalen, Delphine Héron, Thierry Gaillon, et al.
Physical Review Letters|July 31, 2025
Reduction in Nuclear Size and Quadrupole Deformation of High-Spin Isomers of ^{127,129}InA R Vernon, C L Binnersley, R F Garcia Ruiz, et al.
Physical Review Letters|November 24, 2018
Evidence for Coexisting Shapes through Lifetime Measurements in ^{98}ZrPurnima Singh, W Korten, T W Hagen, et al.
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