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Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. Am J Hum Genet 2017;100(6):865-884.
. Withdrawal Assessment Tool-1 Monitoring in PICU: A Multicenter Study on Iatrogenic Withdrawal Syndrome. Pediatr Crit Care Med 2017;18(2):e86-e91.
. A young goalkeeper with buttock pain and fever. BMJ 2017;357:j2400.
. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. Br J Haematol 2018;183(2):276-288.
. Anti-transglutaminase 6 Antibody Development in Children With Celiac Disease Correlates With Duration of Gluten Exposure. J Pediatr Gastroenterol Nutr 2018;66(1):64-68.
. Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?. Eur J Med Genet 2018;61(10):581-584.
. A Child with Diminished Linear Growth and Waddling Gait. J Pediatr 2018;201:297-297.e1.
. De novo unbalanced translocations have a complex history/aetiology. Hum Genet 2018;137(10):817-829.
. De novo unbalanced translocations have a complex history/aetiology. Hum Genet 2018;137(10):817-829.
. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Genome Biol 2018;19(1):87.
. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Genome Biol 2018;19(1):87.
. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Genome Biol 2018;19(1):87.
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