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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 10 of 10 1 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature Piard, Juliette,; Hawkes, Lara; Milh, Mathieu... 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) BASE Show details 2 Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report Spurdle, Amanda B; Greville-Heygate, Stephanie; Antoniou, Antonis C. - : BMJ Publishing Group Ltd, 2019 BASE Show details 3 Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report Spurdle, Amanda B.; Greville-Heygate, Stephanie; Antoniou, Antonis. - 2019 BASE Show details 4 Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. Spurdle, Amanda B; Greville-Heygate, Stephanie; Antoniou, Antonis. - : BMJ, 2019. : J Med Genet, 2019 BASE Show details 5 Towards controlled terminology for reporting germline cancer susceptibility variants: An ENIGMA report Spurdle, Amanda B.; Greville-Heygate, Stephanie; Antoniou, Antonis C.. - : BMJ Group, 2019 BASE Show details 6 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature Piard, Juliette; Hawkes, Lara; Milh, Mathieu. - : Nature Publishing Group US, 2018 BASE Show details 7 Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain Laskowski, Roman A.; Tyagi, Nidhi; Johnson, Diana. - : Oxford University Press, 2016 BASE Show details 8 The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant Koolen, David A; Pfundt, Rolph; Linda, Katrin. - : Nature Publishing Group, 2016 BASE Show details 9 Further clinical and molecular delineation of the 15q24 microdeletion syndrome Mefford, Heather C; Rosenfeld, Jill A; Shur, Natasha. - : British Medical Journal Publishing Group, 2012 BASE Show details 10 Further clinical and molecular delineation of the 15q24 microdeletion syndrome Mefford, Heather C; Rosenfeld, Jill A; Shur, Natasha. - : British Medical Journal Publishing Group, 2011 BASE Show details

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