Genetic screening / counselling

Papillorenal syndrome: a systemic diagnosis not to be missed on funduscopy
Benjamin Ng, Samantha De Silva, Mandeep Bindra

BMJ Case Reports CP Jul 2021, 14 (7) e241708; DOI: 10.1136/bcr-2021-241708
A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy
Sandra Ganchinho Lucas, Inês Vieira Santos, Filipe Jorge Pencas Alfaiate, Ireneia Lino

BMJ Case Reports CP Jul 2021, 14 (7) e242341; DOI: 10.1136/bcr-2021-242341
Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia
Arjun Verma, Nishant Banait, Pradeep Suryawanshi, Reema Garegrat

BMJ Case Reports CP Jul 2021, 14 (7) e240397; DOI: 10.1136/bcr-2020-240397
Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure
Jiwan Shriram Kinkar, Patel Zeeshan Jameel, Banshi Lal Kumawat, Priyanka Kalbhor

BMJ Case Reports CP Jun 2021, 14 (6) e241767; DOI: 10.1136/bcr-2021-241767
Unexpected presentation of acute porphyria
Chiun Khang Kiew, Adeline Serena Ee Ling Lam

BMJ Case Reports CP Jun 2021, 14 (6) e241580; DOI: 10.1136/bcr-2021-241580
Cardiac fibroma with cardiac arrest: a rare clinical presentation of Gorlin syndrome in an 8-month-old infant
Mohammad Baidoun, Mohamed Elgendy, James Loker

BMJ Case Reports CP Jun 2021, 14 (6) e241519; DOI: 10.1136/bcr-2020-241519
JAK 2 positive myeloproliferative neoplasm presenting as stroke, recurrent TIA and isolated third nerve palsy
Paul Bolaji, Saugata Das, Nasar Ahmad

BMJ Case Reports CP Jun 2021, 14 (6) e242270; DOI: 10.1136/bcr-2021-242270
Lithium-induced ECG modifications: navigating from acute coronary syndrome to Brugada syndrome
Léonard Diserens, Alessandra Pia Porretta, Catalina Trana, David Meier

BMJ Case Reports CP Jun 2021, 14 (6) e241555; DOI: 10.1136/bcr-2021-241555
Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect
Vivekananda Bhat, Dhanya Lakshmi Narayanan, Anju Shukla

BMJ Case Reports CP Jun 2021, 14 (6) e239755; DOI: 10.1136/bcr-2020-239755
Poland’s syndrome mimicking traumatic chest injury
May Honey Ohn, Khin Maung Ohn

BMJ Case Reports CP May 2021, 14 (5) e241408; DOI: 10.1136/bcr-2020-241408

Pages

CLINICAL
- Anaesthesia (121)
- Cardiovascular medicine (621)
- Complementary medicine (4)
- Dentistry and oral medicine (125)
- Dermatology (310)
- Diagnostics
  - Clinical diagnostic tests (35)
  - Radiology (diagnostics) (103)
  - Surgical diagnostic tests (21)
- Diagnostics
- Drugs and medicines (1120)
- Ear, nose and throat/otolaryngology (294)
- Emergency medicine
  - Disaster response
  - Poisoning (31)
  - Resuscitation (44)
  - Trauma (109)
- Emergency medicine (311)
- Endocrinology
  - Adrenal disorders (85)
  - Calcium and bone (62)
  - Diabetes (84)
  - Drugs: endocrine system (17)
  - Lipid disorders (17)
  - Metabolic disorders (58)
  - Pituitary disorders (37)
  - Thyroid disease (78)
- Endocrinology (417)
- Evidence based practice
  - Changing physician behavior
  - Effectiveness of care
  - Guidelines
- Gastroenterology (614)
- Gastroenterology
  - Drugs: gastrointestinal system (32)
  - Endoscopy (113)
  - GI bleeding (68)
  - Infection (gastroenterology) (71)
  - Inflammatory bowel disease (45)
  - Liver disease (125)
  - Neurogastroenterology
  - Oesophagus (38)
  - Pancreas and biliary tract (67)
  - Pancreatitis (48)
  - Portal hypertension (11)
  - Small intestine (57)
  - Stomach and duodenum (63)
- General practice / family medicine (144)
- Genetics
  - Clinical genetics
  - Cytogenetics
  - Genetic screening / counselling (52)
  - Molecular genetics
- Genetics (166)
- Geriatric medicine
  - Elder abuse
  - End of life decisions (geriatric medicine) (1)
  - Long term care (15)
  - Psychogeriatrics
- Geriatric medicine (47)
- Haematology (incl blood transfusion) (326)
- HIV/AIDS (49)
- Immunology (including allergy) (54)
- Infectious diseases (845)
- Intensive care
  - Adult intensive care (197)
  - Mechanical ventilation (18)
  - Neonatal intensive care (54)
  - Paediatric intensive care (39)
- Intensive care (348)
- Neurology
  - Brain stem / cerebellum (57)
  - Cerebral palsy (5)
  - Clinical neurophysiology (24)
  - Coma and raised intracranial pressure (22)
  - Cranial nerves (69)
  - Dementia (7)
  - Drugs: CNS (not psychiatric) (23)
  - Epilepsy and seizures (75)
  - Headache (including migraine) (9)
  - Hydrocephalus (12)
  - Infection (neurology) (100)
  - Motor neurone disease (8)
  - Movement disorders (other than Parkinsons) (40)
  - Multiple sclerosis (10)
  - Muscle disease (32)
  - Neuroimaging (230)
  - Neurological injury (48)
  - Neuromuscular disease (42)
  - Neurooncology (67)
  - Neuroophthalmology (8)
  - Pain (neurology) (33)
  - Parkinson's disease (4)
  - Peripheral nerve disease (57)
  - Sleep disorders (neurology) (4)
  - Spinal cord (69)
  - Stroke (149)
  - Trauma CNS / PNS (26)
  - Variant Creutzfeld-Jakob Disease (2)
- Neurology (975)
- Nursing (24)
- Nutrition and metabolism
  - Childhood nutrition (4)
  - Diet (17)
  - Malnutrition (15)
  - Obesity (nutrition) (12)
  - Vitamins and supplements (27)
- Nutrition and metabolism (74)
- Obstetrics and gynaecology (341)
- Oncology (879)
- Ophthalmology (447)
- Orthopaedics (227)
- Paediatrics
  - Adolescent health
  - Bilirubin disorders (5)
  - Child abuse (5)
  - Child and adolescent psychiatry (paedatrics) (7)
  - Child health
  - Childhood nutrition (paediatrics) (4)
  - Congenital disorders (174)
  - Developmental paediatrics (4)
  - Failure to thrive (14)
  - Infant health (25)
  - Infant nutrition (including breastfeeding) (3)
  - Materno-fetal medicine (51)
  - Neonatal and paediatric intensive care (55)
  - Neonatal health (56)
  - SIDS
- Paediatrics (497)
- Palliative care
  - End of life decisions (palliative care) (9)
  - Hospice
  - Pain (palliative care) (5)
- Palliative care (29)
- Pathology
  - Chemical pathology
  - Cytopathology
  - Histopathology
  - Inflammation
  - Microbiology
  - Microscopy
  - Molecular biology
  - Morbid anatomy / surgical pathology
  - Neuropathology
  - Virology
- Pathology (337)
- Pharmacology and therapeutics
  - Drug misuse (including addiction) (26)
  - Medicines regulation
  - Toxicology (36)
  - Unwanted effects / adverse reactions (195)
- Pharmacology and therapeutics (310)
- Prison medicine
- Psychiatry
  - Adjustment disorders
  - Alcohol-related disorders (2)
  - Anxiety disorders (including OCD and PTSD) (9)
  - Child and adolescent psychiatry (7)
  - Delirium (13)
  - Drugs misuse (including addiction) (18)
  - Drugs: psychiatry (19)
  - Eating disorders (5)
  - Impulse control disorders (4)
  - Memory disorders (psychiatry) (19)
  - Mood disorders (including depression) (21)
  - Personality disorders (1)
  - Psychiatry of old age (5)
  - Psychotherapy (10)
  - Psychotic disorders (incl schizophrenia) (25)
  - Sexual and gender disorders (2)
  - Sleep disorders (1)
  - Somatoform disorders (4)
  - Suicide (psychiatry) (4)
- Psychiatry (147)
- Radiology (508)
- Rehabilitation medicine
  - Continuing medical education
  - Disability (10)
  - Other rehabilitative therapies
  - Physiotherapy (24)
- Rehabilitation medicine (53)
- Renal medicine
  - Acute renal failure (75)
  - Chronic renal failure (28)
  - Dialysis (37)
  - Fluid electrolyte and acid-base disturbances (51)
  - Nephrotic syndrome (18)
  - Proteinurea (20)
  - Renal transplantation (25)
- Renal medicine (225)
- Respiratory medicine (385)
- Rheumatology
  - Ankylosing spondylitis (2)
  - Biological agents (16)
  - Connective tissue disease (62)
  - Degenerative joint disease (5)
  - Drugs: musculoskeletal and joint diseases (18)
  - Fibromyalgia (2)
  - Musculoskeletal syndromes (45)
  - Osteoarthritis (9)
  - Osteoporosis (6)
  - Rheumatoid arthritis (26)
  - Sjogren's syndrome (3)
  - Systemic lupus erythematosus (37)
  - Vascularitis (109)
- Rheumatology (350)
- Sexual health (64)
- Sports and exercise medicine (77)
- Surgery
  - Breast surgery (42)
  - Cardiothoracic surgery (124)
  - Gastrointestinal surgery (293)
  - General surgery (317)
  - Neurosurgery (139)
  - Oral and maxillofacial surgery (92)
  - Orthopaedic and trauma surgery (141)
  - Otolaryngology / ENT (168)
  - Plastic and reconstructive surgery (108)
  - Surgical oncology (147)
  - Transplantation (38)
  - Urological surgery (113)
  - Vascular surgery (116)
- Surgery (1603)
- Urology (172)
NON-CLINICAL
- Communication
- Epidemiology
  - Clinical trials (epidemiology)
  - Epidemiologic studies
  - Population trends
  - Screening (epidemiology)
  - Survey techniques
  - Therapeutic trials
  - Time-to-event methods
- Ethics
  - Artificial and donated transplantation
  - Assisted dying
  - Bioethics
  - Clinical ethics
  - Codes of professional ethics
  - Competing interests (ethics)
  - Confidentiality
  - Drug issues
  - End of life decisions (ethics)
  - Ethics of abortion
  - Ethics of reproduction
  - Experiments in vivo
  - Informed consent
  - Research and publication ethics
  - Sexuality / gender
- Ethics (11)
- Ethnic studies (2)
- Health economics (5)
- Health informatics
  - Information management
  - Internet
  - IT
  - Telemedicine
- Health policy
- Health service research
- Journalology
- Legal and forensic medicine
- Medical careers
  - Choosing / changing career
  - Combining life and work
  - Communication
  - Continuous professional development
  - Flexible training
  - Getting and changing jobs
  - Getting and changing jobs (including job descriptions and contracts)
  - Leaving medicine
  - Medical careers
  - Organise and prepare your CV
  - Organise working abroad
  - Pay, working conditions, and health
  - Personal development
  - Portfolio development
  - Prepare for appraisal
  - Prepare for interview
  - Professional conduct and regulation
  - Professional regulation and standards
  - Retirement
- Medical education
  - History taking and the physical examination
  - Postgraduate
  - Undergraduate
- Medical education (65)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (127)
- Occupational and environmental medicine (90)
- Patients
- Public health
  - Abuse (child, partner, elder)
  - Air pollution
  - Alcohol
  - Drug misuse
  - Environmental issues
  - Health education
  - Health of indigenous peoples
  - Health promotion
  - Homicide
  - Housing and health
  - Human rights
  - Injury
  - Obesity (public health) (4)
  - Screening (public health)
  - Sexual health (public health)
  - Smoking
  - Social conditions and disease
  - Suicide (public health)
  - Urban health
  - Vaccination programs
  - Violence (other)
  - Violence against women
- Public health (38)
- Smoking and tobacco (13)
- Sociology (1)
- Statistics and research methods
  - Comparative effectiveness research
  - Qualitative research
  - Quantitative research
- Statistics and research methods (1)
Special collections

Log in using your username and password

Main menu

Log in using your username and password

You are here

Genetic screening / counselling

Pages