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Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 793 - 796
Journal Article
Journal Article
Seizure: European Journal of Epilepsy, ISSN 1059-1311, 03/2018, Volume 56, pp. 1 - 3
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 2010, Volume 30, Issue 10, pp. 970 - 976
OBJECTIVE: Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated... 
Perinatal | Barth syndrome | Hydrops | Neonatal | Fetal | GENE-MUTATIONS | neonatal | hydrops | 3-METHYLGLUTACONIC ACIDURIA | G4.5 GENE | fetal | ACUTE METABOLIC DECOMPENSATION | MASS-SPECTROMETRY | OBSTETRICS & GYNECOLOGY | LEFT-VENTRICULAR NONCOMPACTION | CARDIOSKELETAL MYOPATHY | CARDIAC TRANSPLANTATION | perinatal | LYMPHOBLAST MITOCHONDRIA | GENETICS & HEREDITY | TAZ GENE | Barth Syndrome - epidemiology | Cardiomyopathy, Dilated - pathology | Isolated Noncompaction of the Ventricular Myocardium - genetics | Humans | Isolated Noncompaction of the Ventricular Myocardium - epidemiology | Male | Stillbirth - genetics | Isolated Noncompaction of the Ventricular Myocardium - pathology | Fetal Diseases - genetics | Barth Syndrome - pathology | Endocardial Fibroelastosis - genetics | Fetal Diseases - epidemiology | Endocardial Fibroelastosis - epidemiology | Female | Cardiolipins - blood | Cardiomyopathy, Dilated - genetics | Chromosomes, Human, X - genetics | Cardiomyopathy, Dilated - epidemiology | Lysophospholipids - blood | Biomarkers - blood | Transcription Factors - genetics | Sequence Analysis, DNA | Barth Syndrome - genetics | Pedigree | Fetal Death - epidemiology | Fetal Diseases - pathology | Fetal Death - genetics | Sex Factors | Stillbirth - epidemiology | United Kingdom - epidemiology | Cohort Studies | Endocardial Fibroelastosis - pathology | Heart | Edema | Neonates | Growth rate | Cardiomyopathy | Fetuses | X chromosome | Infants | Hypoglycemia | aciduria | Stress | Mitochondria | Prenatal diagnosis | Dilated cardiomyopathy | Children | Ventricle | Electron transport | Lactic acidosis | Neutropenia | Index Medicus | Original Paper
Journal Article
Current Oncology, ISSN 1198-0052, 08/2018, Volume 25, Issue 4, pp. 262 - 274
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2013, Volume 50, pp. 309 - 323
BACKGROUND: Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, pp. 793 - 796
Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2011, Volume 43, pp. 729 - 731
Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2010, Volume 18, pp. 872 - 880
Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more... 
Journal Article
Journal of Medical Genetics, ISSN 1468-6244, 01/2004, Volume 41, Issue 1, pp. 52 - 59
  [...]this classification belies a much greater clinical spectrum in which characteristics such as radiographic features, age of onset, degree of lower limb... 
Proteins | Genotype & phenotype | Scholarships & fellowships | Collagen | Extracellular matrix | Arthritis | Mutation | Grants | Deoxyribonucleic acid--DNA
Journal Article
Sarcoma, ISSN 1357-714X, 09/2005, Volume 9, Issue 3, pp. 151 - 156
Well differentiated liposarcoma (atypical lipomatous tumour) is a low grade tumour, with no metastatic potential unless dedifferentiation supervenes. When... 
genetic | retinoblastoma | Liposarcoma | lipoma | Genetic | Lipoma | Retinoblastoma
Journal Article
Journal Article
Gastroenterology, ISSN 0016-5085, 1978, Volume 75, Issue 2, pp. 240 - 243
We examined 66 patients with pain of possible esophageal origin for sensitivity to intraesophageal infusions of coffee, orange juice, spicy tomato drink, or... 
Food - adverse effects | Esophagitis, Peptic - etiology | Humans | Middle Aged | Esophagitis, Peptic - diagnosis | Male | Fruit - adverse effects | Heartburn - etiology | Adult | Female | Aged | Coffee - adverse effects | Vegetables - adverse effects | Esophagitis, Peptic - complications | Hydrogen-Ion Concentration
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 11/2004, Volume 151, Issue 5, pp. 953 - 960
Journal Article
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