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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 – 2 of 2 1 Skraban-Deardorff syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype Cospain, Auriane; Schaefer, Elise; Faoucher, Marie... In: ISSN: 0009-9163 ; EISSN: 1399-0004 ; Clinical Genetics ; https://hal.archives-ouvertes.fr/hal-03134882 ; Clinical Genetics, Wiley, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩ (2021) BASE Show details 2 Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. Rajakulendran, S; Roberts, J; Koltzenburg, M... In: J Neurol Neurosurg Psychiatry , 84 (11) 1255 - 1257. (2013) (2013) BASE Show details

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