You are here
- Home
- topic
- BMJ Case Reports CP
- CLINICAL
- Genetics
Genetics
- Congenital dysfibrinogenaemia presented with preterm premature rupture of the membranes and vaginal bleedingZaker I Schwabkey, Farrell C Sheehan, Courtney Bellomo, Mihir RavalBMJ Case Reports CP Sep 2020, 13 (9) e235961; DOI: 10.1136/bcr-2020-235961
- Primary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: a rare scenarioAbhishek Goyal, Bishav Mohan, Kavita Saggar, Gurpreet Singh WanderBMJ Case Reports CP Sep 2020, 13 (9) e235650; DOI: 10.1136/bcr-2020-235650
- Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?Dilanka L De Silva, Ingrid WinshipBMJ Case Reports CP Sep 2020, 13 (9) e236435; DOI: 10.1136/bcr-2020-236435
- Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndromeMargarita E Polyak, Anna Shestak, Dmitriy Podolyak, Elena ZaklyazminskayaBMJ Case Reports CP Aug 2020, 13 (8) e235703; DOI: 10.1136/bcr-2020-235703
- Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathyAdil Ahmed Khan, Chaithanya Reddy, Arushi Gahlot Saini, Sameer VyasBMJ Case Reports CP Aug 2020, 13 (8) e235468; DOI: 10.1136/bcr-2020-235468
- Cancer within the family tree: risks, diagnosis and treatment of juvenile polyposis syndromeKyler Kozacek, Ryan Luzano Santos, Michael Abdo, Pedro A ManibusanBMJ Case Reports CP Aug 2020, 13 (8) e236845; DOI: 10.1136/bcr-2020-236845
- CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficultyCheuk Lam Lau, Yuet Yee Chee, Brian Hon Yin Chung, Ming Sum Rosanna WongBMJ Case Reports CP Jul 2020, 13 (7) e233037; DOI: 10.1136/bcr-2019-233037
- Neurofibromatosis-associated pulmonary hypertension: an ominous duoSónia Gomes Coelho, Maria José LoureiroBMJ Case Reports CP Jul 2020, 13 (7) e234976; DOI: 10.1136/bcr-2020-234976
- Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boyBinh T Le, Cuong M Duong, Tien Q Nguyen, Chi-Bao BuiBMJ Case Reports CP Jul 2020, 13 (7) e233872; DOI: 10.1136/bcr-2019-233872
- Lynch syndrome-associated colorectal cancer in a 16-year-old girl due to a de novo MSH2 mutationKristin Zajo, Susan I Colace, Danielle Mouhlas, Steven H ErdmanBMJ Case Reports CP Jul 2020, 13 (7) e233935; DOI: 10.1136/bcr-2019-233935
Pages
- CLINICAL
- Anaesthesia (216)
- Cardiovascular medicine (1016)
- Dermatology (562)
- Diagnostics
- Radiology (diagnostics) (146)
- Drugs and medicines (1782)
- Emergency medicine
- Poisoning (49)
- Resuscitation (57)
- Trauma (160)
- Emergency medicine (487)
- Endocrinology
- Adrenal disorders (118)
- Calcium and bone (97)
- Diabetes (127)
- Lipid disorders (26)
- Metabolic disorders (89)
- Pituitary disorders (57)
- Thyroid disease (118)
- Endocrinology (679)
- Evidence based practice
- Gastroenterology (936)
- Gastroenterology
- Endoscopy (165)
- GI bleeding (99)
- Liver disease (186)
- Oesophagus (55)
- Pancreatitis (61)
- Portal hypertension (16)
- Small intestine (76)
- Stomach and duodenum (85)
- Genetics
- Genetics (301)
- Geriatric medicine
- Long term care (18)
- Geriatric medicine (67)
- HIV/AIDS (80)
- Infectious diseases (1361)
- Intensive care
- Adult intensive care (301)
- Intensive care (569)
- Neurology
- Cerebral palsy (6)
- Cranial nerves (107)
- Dementia (7)
- Epilepsy and seizures (116)
- Hydrocephalus (22)
- Infection (neurology) (166)
- Multiple sclerosis (19)
- Muscle disease (40)
- Neuroimaging (396)
- Neurological injury (71)
- Neurooncology (116)
- Pain (neurology) (47)
- Spinal cord (105)
- Stroke (239)
- Trauma CNS / PNS (40)
- Neurology (1651)
- Nursing (36)
- Nutrition and metabolism
- Diet (21)
- Malnutrition (24)
- Obesity (nutrition) (17)
- Nutrition and metabolism (119)
- Oncology (1507)
- Ophthalmology (785)
- Orthopaedics (391)
- Paediatrics
- Child abuse (6)
- Congenital disorders (280)
- Failure to thrive (19)
- Infant health (32)
- Neonatal health (93)
- Paediatrics (941)
- Palliative care
- Palliative care (38)
- Pathology
- Pathology (577)
- Pharmacology and therapeutics
- Toxicology (56)
- Prison medicine (1)
- Psychiatry
- Delirium (17)
- Drugs: psychiatry (29)
- Eating disorders (7)
- Psychotherapy (14)
- Sleep disorders (2)
- Psychiatry (227)
- Radiology (896)
- Rehabilitation medicine
- Disability (17)
- Physiotherapy (41)
- Renal medicine
- Acute renal failure (107)
- Dialysis (61)
- Nephrotic syndrome (29)
- Proteinurea (29)
- Renal medicine (380)
- Respiratory medicine (632)
- Rheumatology
- Biological agents (37)
- Fibromyalgia (2)
- Osteoarthritis (13)
- Osteoporosis (11)
- Rheumatoid arthritis (40)
- Vascularitis (161)
- Rheumatology (589)
- Sexual health (102)
- Surgery
- Breast surgery (69)
- Cardiothoracic surgery (205)
- Gastrointestinal surgery (432)
- General surgery (457)
- Neurosurgery (204)
- Otolaryngology / ENT (246)
- Surgical oncology (230)
- Transplantation (61)
- Urological surgery (183)
- Vascular surgery (192)
- Surgery (2650)
- Urology (280)
- NON-CLINICAL
- Epidemiology
- Ethics
- Ethics (16)
- Ethnic studies (2)
- Health economics (7)
- Health informatics
- Medical careers
- Medical education
- Medical education (108)
- Medical management
- Medical management (208)
- Public health
- Public health (68)
- Smoking and tobacco (16)
- Sociology (1)
- Statistics and research methods
- Special collections
- BMJ Series
- Case Reports
- Global health (75)
- Images in... (2287)
- Learning from errors (76)
- New disease (44)
- Rare disease (2596)
- COVID-19 (558)
- Editor's choice (66)
- Endgames
- Open access (847)
- Original research articles