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Journal of Pediatrics, The, ISSN 0022-3476, 2015, Volume 166, Issue 2, pp. 483 - 486
Journal Article
Canadian Journal of Cardiology, ISSN 0828-282X, 2016
Abstract A 16-year-old male with long QT syndrome type 3 (LQT3) was admitted for decompensated heart failure due to dilated cardiomyopathy (DCM). His brother... 
Cardiovascular
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2011, Volume 45, Issue 1, pp. 54 - 56
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 10/2017, Volume 62, Issue 10, pp. 927 - 929
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 172 - 172
Journal Article
Journal Article
PLOS ONE, ISSN 1932-6203, 10/2017, Volume 12, Issue 10, pp. e0186879 - e0186879
Gorlin syndrome is an autosomal dominant inherited syndrome that predisposes a patient to the formation of basal cell carcinomas, odontogenic keratocysts, and... 
SIGNALING PATHWAY | SONIC HEDGEHOG | MULTIDISCIPLINARY SCIENCES | DISEASE | CARCINOMA SYNDROME | RHABDOMYOSARCOMA | HUMAN FIBROBLASTS | MUTATIONS | NEVUS SYNDROME | FAMILY | BETA | Zinc Finger Protein GLI1 - genetics | Bone Morphogenetic Protein 4 - genetics | Humans | Middle Aged | Cells, Cultured | Gene Expression Profiling - methods | Male | Signal Transduction - genetics | Patched-1 Receptor - genetics | Acyltransferases - genetics | Young Adult | Basal Cell Nevus Syndrome - pathology | Cell Differentiation - genetics | Wnt Proteins - genetics | Bone Morphogenetic Protein 6 - genetics | Hedgehog Proteins - genetics | Adult | Basal Cell Nevus Syndrome - genetics | Mutation | Osteogenesis - genetics | Induced Pluripotent Stem Cells - metabolism | Care and treatment | Phosphatases | Analysis | Genes | Physiological aspects | Bone morphogenetic proteins | Basal cell nevus syndrome | Diagnosis | Research | Alkaline phosphatase | Carcinoma | Wnt protein | Pathogenesis | Genomics | Viruses | Biochemistry | Maxillofacial surgery | Proteins | Signal transduction | Gorlin syndrome | Coding | Surgery | Fibroblasts | Biocompatibility | Acetyltransferase | Tumorigenesis | Bone morphogenetic protein 6 | Bone morphogenetic protein 4 | Research & development--R&D | Abnormalities | Gene expression | Patients | Signaling | Osteoblastogenesis | Hedgehog protein | Oral hygiene | Stem cells | Pluripotency | Cancer | Inhibitory postsynaptic potentials | Index Medicus | Research & development | R&D
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 06/2016, Volume 29, Issue 6, pp. 737 - 739
Immunoassays (IAs) are widely used to measure concentration of serum estradiol (E2) despite some limitations including cross-reactivity. Liquid... 
LC-MS/MS | immunoassays | serum estradiol | falsely high value | Falsely high value | Serum estradiol | Immunoassays | PEDIATRICS | ENDOCRINOLOGY & METABOLISM | Estradiol - blood | Immunoassay | Tandem Mass Spectrometry | Teratoma - blood | Humans | Chromatography, Liquid | Female | Luminescent Measurements | Child | Case studies | Teratoma | Diagnosis | Estradiol | Health aspects | Methods
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2009, Volume 17, Issue 10, pp. 1325 - 1335
Journal Article
Cell and Tissue Research, ISSN 0302-766X, 2/2008, Volume 331, Issue 2, pp. 461 - 472
Journal Article