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BMJ Journals
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Journal of Medical Genetics
CLINICAL
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CLINICAL
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
L I
Al-Gazali
,
L
Sztriha
,
J
Punnose
,
W
Shather
,
M
Nork
Journal of Medical Genetics
Feb 1999,
36
(2)
161-166;
DOI:
10.1136/jmg.36.2.161
Dilemmas in counselling females with the fragile X syndrome
Bert B A
de Vries
,
Hanneke M A
van den Boer-van den Berg
,
Martinus F
Niermeijer
,
Aad
Tibben
Journal of Medical Genetics
Feb 1999,
36
(2)
167-170;
DOI:
10.1136/jmg.36.2.167
Polymorphisms in PTEN in breast cancer families
Bryan T
Carroll
,
Fergus J
Couch
,
Timothy R
Rebbeck
,
Barbara L
Weber
Journal of Medical Genetics
Feb 1999,
36
(2)
94-96;
DOI:
10.1136/jmg.36.2.94
A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer
Nicola J
Froggatt
,
Jane
Green
,
Cecilia
Brassett
,
D Gareth R
Evans
,
D Timothy
Bishop
,
Richard
Kolodner
,
Eamonn R
Maher
Journal of Medical Genetics
Feb 1999,
36
(2)
97-102;
DOI:
10.1136/jmg.36.2.97
Spinal muscular atrophy: untangling the knot?
Ivan
Biros
,
Susan
Forrest
Journal of Medical Genetics
Jan 1999,
36
(1)
1-8;
DOI:
10.1136/jmg.36.1.1
Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
Yvonne L
Wallis
,
Dion G
Morton
,
Carole M
McKeown
,
Fiona
Macdonald
Journal of Medical Genetics
Jan 1999,
36
(1)
14-20;
DOI:
10.1136/jmg.36.1.14
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)
Peining
Li
,
Amy B
Bellows
,
Jerry N
Thompson
Journal of Medical Genetics
Jan 1999,
36
(1)
21-27;
DOI:
10.1136/jmg.36.1.21
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
Susanna
Bunge
,
Astrid
Knigge
,
Cordula
Steglich
,
Wim J
Kleijer
,
Otto P
van Diggelen
,
Michael
Beck
,
Andreas
Gal
Journal of Medical Genetics
Jan 1999,
36
(1)
28-32;
DOI:
10.1136/jmg.36.1.28
Cystic fibrosis carrier frequencies in populations of African origin
Carolyn
Padoa
,
Andrea
Goldman
,
Trefor
Jenkins
,
Michele
Ramsay
Journal of Medical Genetics
Jan 1999,
36
(1)
41-44;
DOI:
10.1136/jmg.36.1.41
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism
Clare M
Conn
,
Jean
Cozzi
,
Joyce C
Harper
,
Robert M L
Winston
,
Joy D A
Delhanty
Journal of Medical Genetics
Jan 1999,
36
(1)
45-50;
DOI:
10.1136/jmg.36.1.45
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CLINICAL
Cardiovascular medicine
Arrhythmias
(33)
Cardiomyopathy
(95)
Congenital heart disease
(93)
Hypertension
(63)
Ischaemic heart disease
(48)
Valvar diseases
(32)
Venous thromboembolism
(4)
Dermatology
(272)
Diagnostics
Clinical diagnostic tests
(399)
Surgical diagnostic tests
(120)
Drugs and medicines
Endocrinology
Adrenal disorders
(9)
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
Critical appraisal literature
Gastroenterology
Infection (gastroenterology)
(2)
Inflammatory bowel disease
(17)
Liver disease
(56)
Neurogastroenterology
(24)
Oesophagus
(32)
Pancreas and biliary tract
(124)
Pancreatitis
(14)
Portal hypertension
(2)
Small intestine
Coeliac disease
(15)
Stomach and duodenum
(16)
Genetics
Clinical genetics
(289)
Cytogenetics
(26)
Genetic screening / counselling
(1075)
Molecular genetics
(1454)
Haematology (incl blood transfusion)
(8)
Immunology (including allergy)
(732)
Infectious diseases
Bone and joint infections
(1)
Drugs: infectious diseases
(45)
Emerging infectious diseases
Bird flu
Foodborne infections
(2)
Hepatitis and other GI infections
(9)
Influenza
Meningitis
(3)
Nosocomial infections
Otitis
(13)
Pneumonia (infectious disease)
(4)
TB and other respiratory infections
(25)
Travel medicine
(4)
Tropical medicine (infectious diseases)
(7)
Urinary tract infections
(1)
Vaccination / immunisation
(4)
Neurology
Cerebral palsy
(5)
Cranial nerves
Dementia
(35)
Drugs: CNS (not psychiatric)
Epilepsy and seizures
(236)
Headache (including migraine)
(8)
Hydrocephalus
(19)
Infection (neurology)
Motor neurone disease
(22)
Movement disorders (other than Parkinsons)
(54)
Multiple sclerosis
(25)
Muscle disease
(176)
Neuroimaging
Neurological injury
Neuromuscular disease
(301)
Neurooncology
(89)
Pain (neurology)
Parkinson's disease
(22)
Peripheral nerve disease
(106)
Sleep disorders (neurology)
Spinal cord
Stroke
Trauma CNS / PNS
Variant Creutzfeld-Jakob Disease
Nutrition and metabolism
Obesity (nutrition)
(74)
Obstetrics and gynaecology
Reproductive medicine
(586)
Oncology
Breast cancer
(276)
Cancer: dermatological
(50)
CNS cancer
(53)
Colon cancer
(147)
Endocrine cancer
(65)
Gastric cancer
Gene therapy
(3)
Head and neck cancer
(7)
Hepatic cancer
(9)
Lung cancer (oncology)
(16)
Oesophageal cancer
(6)
Paediatric oncology
(140)
Prevention
(6)
Prostate cancer
(29)
Screening (oncology)
(268)
Urological cancer
(79)
Ophthalmology
Eye Diseases
(351)
Glaucoma
(22)
Hereditary eye disease
(103)
Neuroophthalmology
Visual development
(9)
Psychiatry
Memory disorders (psychiatry)
(80)
Psychotic disorders (incl schizophrenia)
(33)
Rehabilitation medicine
Disability
Other rehabilitative therapies
Physiotherapy
Respiratory medicine
Asthma
(25)
Cystic fibrosis
(44)
Interstitial lung disease
(11)
Pulmonary emphysema
(3)
Pulmonary hypertension
(7)
Rheumatology
Connective tissue disease
(113)
Osteoarthritis
(13)
Osteoporosis
(19)
Rheumatoid arthritis
(18)
Systemic lupus erythematosus
(8)
Vascularitis
(3)
Surgery
(120)
NON-CLINICAL
Epidemiology
(722)
Ethics
(232)
Medical humanities
Special collections
Editor's choice
(125)
Guidelines, Recommendations and Consensus Statements
JMG Online mutation reports
(169)
Open access
(324)
Press releases
(5)