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Humoral deficiency in three paediatric patients with genetic diseases." Allergol Immunopathol (Madr). 2016;44(3):257-62. Abstract
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Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited." Am. J. Med. Genet. A. 2016;170(5):1333-8. Abstract
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Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis." J Clin Res Pediatr Endocrinol. 2016;8(1):105-6.
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KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation." Development. 2016;143(5):810-21. Abstract
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Body proportions in children with Kabuki syndrome." Am. J. Med. Genet. A. 2016;170(3):610-4. Abstract
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Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome." Am. J. Med. Genet. A. 2016;170(3):801-3.
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Bronchus Associated Lymphoid Tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency." Am. J. Respir. Crit. Care Med.. 2016.
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De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review." Am. J. Med. Genet. A. 2016;170(6):1613-21. Abstract
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Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome." J. Allergy Clin. Immunol.. 2016;137(1):179-87.e10. Abstract
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Unusual Endoscopic Findings in Children: Esophageal and Gastric Polyps: Three Cases Report." Medicine (Baltimore). 2016;95(3):e2539. Abstract
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Epigenetic control of the immune system: a lesson from Kabuki syndrome." Immunol. Res.. 2016;64(2):345-59. Abstract
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Kabuki Syndrome with Cleft Palate." Archives of Plastic Surgery. 2016;43(5):474.
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Growth Hormone Stimulation Tests in Children with Kabuki Syndrome." Hormone Research in Paediatrics. 2016;86(5):319-324.
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Growth pattern in Kabuki syndrome with a KMT2D mutation." American Journal of Medical Genetics Part A. 2016;170(12):3172-3179.
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Kabuki syndrome as a cause of non-immune fetal hydrops/ascites." American Journal of Medical Genetics Part A. 2016;170(12):3333-3337.
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Typical facial gestalt in X-linked Kabuki syndrome." American Journal of Medical Genetics Part A. 2016;170(12):3363-3364.
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An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity." American Journal of Medical Genetics Part A. 2016;170(12):3282-3288.
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What Is New in Genetics of Congenital Heart Defects?" Frontiers in Pediatrics. 2016;4952140A825658359945621359321121513093155A167A958171004290642879352219638418918158A33104424142481478096159323578138(381).
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Enhancer deregulation in cancer and other diseases." BioEssays. 2016;38(10):1003-1015.
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Pilomatricoma Associated with Kabuki Syndrome." Pediatric Dermatology. 2016.
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A novel KMT2D mutation resulting in Kabuki syndrome: A case report." Molecular Medicine Reports. 2016.
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