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Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Eur J Med Genet 2010;53(5):322-4.
. Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. Mol Med Rep 2015;12(4):6128-32.
. What is the quality of the maternal near-miss case reviews in WHO European Region? Cross-sectional study in Armenia, Georgia, Latvia, Republic of Moldova and Uzbekistan. BMJ Open 2018;8(4):e017696.
. Whole-body MRI reveals high incidence of osteonecrosis in children treated for Hodgkin lymphoma. Br J Haematol 2017;176(4):637-642.
. Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. Am J Hum Genet 2017;100(6):865-884.
. Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. Am J Hum Genet 2017;100(6):865-884.
. Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. Am J Hum Genet 2017;100(6):865-884.
. Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. Am J Hum Genet 2017;100(6):865-884.
. X-ray fluorescence elemental mapping and microscopy to follow hepatic disposition of a Gd-based magnetic resonance imaging contrast agent. Clin Exp Pharmacol Physiol 2011;38(12):834-45.
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