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Journal of Medical Genetics|January 11, 2025
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendationsMédéric Jeanne, Nathalie Ronce, Solène Remizé, et al.
Physical Review Letters|August 9, 2003
Cross-section measurement of charged-pion photoproduction from hydrogen and deuteriumL Y Zhu, J Arrington, T Averett, et al.
NPJ Genomic Medicine|December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
NPJ Genomic Medicine|July 10, 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 1, 2019
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsHenri Margot, Guilaine Boursier, Claire Duflos, et al.
Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2020
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variantsLi Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, et al.
Physical Review Letters|March 24, 2005
Measurement of the 3He(e,e'p)pn reaction at high missing energies and momentaF Benmokhtar, M M Rvachev, E Penel-Nottaris, et al.
Physical Review Letters|August 11, 2005
Quasielastic 3He(e,e'p)2H reaction at Q2 = 1.5 GeV2 for recoil momenta up to 1 GeV/cM M Rvachev, F Benmokhtar, E Penel-Nottaris, et al.
Physical Review Letters|February 3, 2004
Precision measurement of the neutron spin asymmetryA(n)(1) and spin-flavor decomposition in the valence quark regionX Zheng, K Aniol, D S Armstrong, et al.
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