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Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Khandelwal KD, Ockeloen CW, Venselaar H, Boulanger C, Brichard B, Sokal E, Pfundt R, Rinne T, van Beusekom E, Bloemen M, Vriend G, Revencu N, Carels CEL, van Bokhoven H, Zhou H. Khandelwal KD, et al. Among authors: sokal e. Am J Med Genet A. 2017 Jul;173(7):1813-1820. doi: 10.1002/ajmg.a.38274. Epub 2017 May 17. Am J Med Genet A. 2017. PMID: 28513979
Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency.
Paganelli M, Stephenne X, Gilis A, Jacquemin E, Henrion Caude A, Girard M, Gonzales E, Revencu N, Reding R, Wanty C, Smets F, Sokal EM. Paganelli M, et al. Among authors: sokal em. J Pediatr Gastroenterol Nutr. 2011 Sep;53(3):350-4. doi: 10.1097/MPG.0b013e3182169433. J Pediatr Gastroenterol Nutr. 2011. PMID: 21865982 No abstract available.
Living donor liver transplantation for hepatic malignancies in children.
Pire A, Tambucci R, De Magnée C, Sokal E, Stephenne X, Scheers I, Zech F, Gurevich M, Brichard B, Reding R. Pire A, et al. Among authors: sokal e. Pediatr Transplant. 2021 Nov;25(7):e14047. doi: 10.1111/petr.14047. Epub 2021 Jun 2. Pediatr Transplant. 2021. PMID: 34076944
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. Jansen JC, et al. Among authors: sokal e. Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833332 Free PMC article.
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C. Maystadt I, et al. Among authors: sokal e. Am J Hum Genet. 2007 Jul;81(1):67-76. doi: 10.1086/518900. Epub 2007 May 16. Am J Hum Genet. 2007. PMID: 17564964 Free PMC article.
427 results