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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
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In: ISSN: 1098-3600 ; Genetics in Medicine ; https://hal-amu.archives-ouvertes.fr/hal-01932796 ; Genetics in Medicine, Nature Publishing Group, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩ ; https://www.nature.com/articles/s41436-018-0339-3 (2019)
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Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
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Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
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Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
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Towards controlled terminology for reporting germline cancer susceptibility variants: An ENIGMA report
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
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Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
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Further clinical and molecular delineation of the 15q24 microdeletion syndrome
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Further clinical and molecular delineation of the 15q24 microdeletion syndrome
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