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Journal Article
Human Mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1246 - 1261
Journal Article
Journal of Hand Surgery, ISSN 0363-5023, 2016, Volume 41, Issue 7, pp. e207 - e210
Journal Article
Circulation: Cardiovascular Genetics, ISSN 1942-325X, 08/2015, Volume 8, Issue 4, pp. 572 - 581
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 391 - 395
Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J ( ) in two independent... 
HOMEOSTASIS | VARIANTS | KAPPA | DNA | GENETICS & HEREDITY | AUTOSOMAL RECESSIVE INHERITANCE | APLASIA-CUTIS-CONGENITA | SEQUENCING DATA | Limb Deformities, Congenital - genetics | Transcription Factor HES-1 | Receptors, Notch - metabolism | Humans | Male | Receptors, Notch - genetics | Promoter Regions, Genetic - genetics | Chromatin Immunoprecipitation | HEK293 Cells | Polymerase Chain Reaction | Ectodermal Dysplasia - pathology | Female | Electrophoretic Mobility Shift Assay | Scalp Dermatoses - genetics | Immunoglobulin J Recombination Signal Sequence-Binding Protein - genetics | Scalp Dermatoses - congenital | Immunoglobulin J Recombination Signal Sequence-Binding Protein - metabolism | Genetic Predisposition to Disease - genetics | Basic Helix-Loop-Helix Transcription Factors - genetics | Protein Structure, Tertiary - genetics | Scalp Dermatoses - pathology | Mutation - genetics | Homeodomain Proteins - genetics | Pedigree | Ectodermal Dysplasia - genetics | Limb Deformities, Congenital - pathology | Adams-Oliver syndrome | Gene mutations | Causes of | Genetic aspects | Research | Genetic transcription | Binding proteins | Genetic recombination | Proteins | Immunoglobulins | Genetic disorders | Mutation | Genomics | Index Medicus | Limbs | Recombination | Aplasia | Transcription | Scalp | Notch protein | Skin | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2015, Volume 97, Issue 3, pp. 475 - 482
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 | Kabuki syndrome | gene | congenital heart defect | KDM6A | KMT2D gene | KDM6A gene | 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 | Index Medicus
Journal Article
Journal Article
Journal of Nepal Paediatric Society, ISSN 1990-7974, 2015, Volume 35, Issue 2, pp. 168 - 171
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2014, Volume 22, Issue 3, pp. 374 - 378
Journal Article
Journal Article
Journal of the College of Physicians and Surgeons Pakistan, ISSN 1022-386X, 2014, Volume 24, pp. S76 - S77
Journal Article
ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, ISSN 0151-9638, 03/2019, Volume 146, Issue 3, pp. 223 - 225
Adams-Oliver syndrome (AOS) is a congenital condition characterized by congenital aplasia cutis and transverse limb defects. Herein we report a case of an... 
Cutis marmorata telangiectatica congenita | Intra-uterine growth restriction | LIMB DEFECTS | Adams-Oliver syndrome | VARIANT | DERMATOLOGY
Journal Article