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Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
Surgery|October 9, 2024
Risk factors and outcomes of conversions in robotic and laparoscopic liver resections: A nationwide analysisGabriela Pilz da Cunha, Jasper P Sijberden, Paul Gobardhan, et al.
Annals of Surgery Open : Perspectives of Surgical History, Education, and Clinical Approaches|December 23, 2024
Robotic Versus Laparoscopic Liver Resection: A Nationwide Propensity Score Matched AnalysisGabriela Pilz da Cunha, Jasper P Sijberden, Susan van Dieren, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Plos One|February 17, 2017
Vitamin D and mortality: Individual participant data meta-analysis of standardized 25-hydroxyvitamin D in 26916 individuals from a European consortiumMartin Gaksch, Rolf Jorde, Guri Grimnes, et al.
Brain : a Journal of Neurology|January 25, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaAndrew E Fry, Katherine A Fawcett, Nathanel Zelnik, et al.
American Journal of Human Genetics|November 3, 2018
NFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalyIna Schanze, Jens Bunt, Jonathan W C Lim, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
Journal of the American Society of Nephrology : JASN|December 9, 2016
Genetic Variants Associated with Circulating Parathyroid HormoneCassianne Robinson-Cohen, Pamela L Lutsey, Marcus E Kleber, et al.
Neurology|July 10, 2025
Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations: A Multicenter Patient Data AnalysisPhilipp Dammann, Alejandro N Santos, Laven Mavarani, et al.
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