You are here
- Home
- uniparental sisomy
uniparental sisomy
- Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delayKit San Yeung, Matthew Sai Pong Ho, So Lun Lee, Anita Sik Yau Kan, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Po Lam So, Rolph Pfundt, Christian R Marshall, Stephen W Scherer, Sanaa Choufani, Rosanna Weksberg, Brian Hon-Yin ChungJournal of Medical Genetics Dec 2018, 55 (12) 847-852; DOI: 10.1136/jmedgenet-2018-105328
- CLINICAL
- Cardiovascular medicine
- Arrhythmias (33)
- Cardiomyopathy (95)
- Hypertension (63)
- Valvar diseases (32)
- Dermatology (272)
- Diagnostics
- Endocrinology
- Calcium and bone (344)
- Diabetes (113)
- Drugs: endocrine system (125)
- Lipid disorders (34)
- Metabolic disorders (386)
- Pituitary disorders (13)
- Thyroid disease (24)
- Evidence based practice
- Gastroenterology
- Liver disease (56)
- Oesophagus (32)
- Pancreatitis (14)
- Small intestine
- Coeliac disease (15)
- Stomach and duodenum (16)
- Genetics
- Clinical genetics (289)
- Cytogenetics (26)
- Molecular genetics (1454)
- Infectious diseases
- Emerging infectious diseases
- Meningitis (3)
- Otitis (13)
- Travel medicine (4)
- Neurology
- Cerebral palsy (5)
- Dementia (35)
- Epilepsy and seizures (236)
- Hydrocephalus (19)
- Multiple sclerosis (25)
- Muscle disease (176)
- Neuromuscular disease (301)
- Neurooncology (89)
- Parkinson's disease (22)
- Peripheral nerve disease (106)
- Nutrition and metabolism
- Obesity (nutrition) (74)
- Obstetrics and gynaecology
- Reproductive medicine (586)
- Oncology
- Breast cancer (276)
- CNS cancer (53)
- Colon cancer (147)
- Endocrine cancer (65)
- Gene therapy (3)
- Hepatic cancer (9)
- Paediatric oncology (140)
- Prevention (6)
- Prostate cancer (29)
- Screening (oncology) (268)
- Urological cancer (79)
- Ophthalmology
- Eye Diseases (351)
- Glaucoma (22)
- Hereditary eye disease (103)
- Psychiatry
- Rehabilitation medicine
- Respiratory medicine
- Asthma (25)
- Cystic fibrosis (44)
- Rheumatology
- Osteoarthritis (13)
- Osteoporosis (19)
- Rheumatoid arthritis (18)
- Vascularitis (3)
- Surgery (120)
- NON-CLINICAL
- Epidemiology (722)
- Ethics (232)
- Special collections
- Editor's choice (125)
- Open access (324)
- Press releases (5)