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Annals of Neurology, ISSN 0364-5134, 2012, Volume 72, Issue 4, pp. 550 - 558
Journal Article
Journal Article
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 10/2017, Volume 76, Issue 10, pp. 1648 - 1656
Journal Article
Nature medicine, ISSN 1078-8956, 2014, Volume 20, Issue 9, pp. 992 - 1000
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 2912 - 2922
The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a... 
KMT2D gene | Kabuki syndrome | KDM6A gene | congenital heart defect | HORMONE DEFICIENCY | MENTAL-RETARDATION | NIIKAWA-KUROKI-SYNDROME | TURNERS-SYNDROME | SYNDROME GENES KMT2D | MAKE-UP-SYNDROME | PHENOTYPIC SPECTRUM | CARDIOVASCULAR MALFORMATIONS | GENETICS & HEREDITY | MUTATIONS | ADAMS-OLIVER-SYNDROME | Aortic Valve Stenosis - genetics | Vestibular Diseases - complications | Aortic Valve - abnormalities | Face - abnormalities | Humans | Male | Heart Septal Defects, Ventricular - physiopathology | Heart Septal Defects, Atrial - physiopathology | Histone Demethylases - genetics | Aortic Coarctation - physiopathology | Heart Defects, Congenital - genetics | Aortic Coarctation - complications | Female | Heart Septal Defects, Atrial - genetics | Vestibular Diseases - physiopathology | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Heart Valve Diseases - physiopathology | Hematologic Diseases - complications | Heart Septal Defects, Ventricular - genetics | Aortic Valve Stenosis - physiopathology | Aortic Valve - physiopathology | DNA-Binding Proteins - genetics | Abnormalities, Multiple - physiopathology | Face - physiopathology | Aortic Valve Stenosis - complications | Heart Defects, Congenital - complications | Hematologic Diseases - physiopathology | Heart Valve Diseases - genetics | Hematologic Diseases - genetics | Aortic Coarctation - genetics | Heart Defects, Congenital - physiopathology | Vestibular Diseases - genetics | Heart | Congenital heart disease | Genetic disorders | Coronary heart disease | Echocardiography | Congenital defects | Aortic arch | Aorta | Ventricle | Health risk assessment | Aortic valve | Defects
Journal Article
JOURNAL OF RHEUMATOLOGY, ISSN 0315-162X, 05/2019, Volume 46, Issue 5, pp. 523 - 526
Objective. An upregulation of type I interferon (IFN) stimulated genes [IFN score (IS)] was described in patients with adenosine deaminase 2 deficiency... 
DISEASE BIOMARKER | INTERFERON | MUTATIONS | RHEUMATOLOGY | ADA2 DEFICIENCY | ADENOSINE-DEAMINASE 2
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 01/2016, Volume 126, Issue 1, pp. 239 - 239
In this paper, the authors have described a homozygous missense variant (c.602C>T, p.S201F) in POPDC1, identified by wholeexome sequencing, in a family of 4... 
Journal Article