Skip to main content
Subscribe
Log In
More
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?
Basket
Search
More
Search for this keyword
Advanced search
Latest content
Current issue
Archive
Authors
About
Search for this keyword
Advanced search
Close
More
Main menu
Latest content
Current issue
Archive
Authors
About
Subscribe
Log in
More
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?
BMJ Journals
You are here
Home
topic
Journal of Medical Genetics
CLINICAL
Diagnostics
Clinical diagnostic tests
Email alerts
Clinical diagnostic tests
Xp;Yp translocation inherited from the father in an
SRY
,
RBM
, and
TSPY
positive true hermaphrodite with oligozoospermia
LUCJUSZ
JAKUBOWSKI
,
ANNA
JEZIOROWSKA
,
MARIA
CONSTANTINOU
,
ZOFIA
HELSZER
,
ANNETTE
BAUMSTARK
,
WALTHER
VOGEL
,
DIANA
MIKIEWICZ-SYGULA
,
BOGDAN
KAULZEWSKI
Journal of Medical Genetics
Oct 2000,
37
(10)
e28;
DOI:
10.1136/jmg.37.10.e28
Partial tetrasomy 21 in a male infant
ANNE M
SLAVOTINEK
,
XIAO-NING
CHEN
,
ANN
JACKSON
,
LORRAINE
GAUNT
,
ALASTAIR
CAMPBELL
,
JILL
CLAYTON-SMITH
,
JULIE R
KORENBERG
Journal of Medical Genetics
Oct 2000,
37
(10)
e30;
DOI:
10.1136/jmg.37.10.e30
Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity
D
BARALLE
,
A M
DEARLOVE
,
R
BEACH
,
C
FFRENCH-CONSTANT
,
E
REID
Journal of Medical Genetics
Oct 2000,
37
(10)
e31;
DOI:
10.1136/jmg.37.10.e31
Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in
MSH2
and
MLH1
Sapna
Syngal
,
Edward A
Fox
,
Charis
Eng
,
Richard D
Kolodner
,
Judy E
Garber
Journal of Medical Genetics
Sep 2000,
37
(9)
641-645;
DOI:
10.1136/jmg.37.9.641
A novel mutation in the thiamine responsive megaloblastic anaemia gene
SLC19A2
in a patient with deficiency of respiratory chain complex I
Curt
Scharfe
,
Michael
Hauschild
,
Thomas
Klopstock
,
Antoon J M
Janssen
,
Peter H
Heidemann
,
Thomas
Meitinger
,
Michaela
Jaksch
Journal of Medical Genetics
Sep 2000,
37
(9)
669-673;
DOI:
10.1136/jmg.37.9.669
Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy
LEON G
D'CRUZ
,
CHRISTINA
BABOONIAN
,
HAZEL E
PHILLIMORE
,
ROHAN
TAYLOR
,
PERRY M
ELLIOTT
,
AMANDA
VARNAVA
,
FERGUS
DAVISON
,
WILLIAM J
MCKENNA
,
NICHOLAS D
CARTER
Journal of Medical Genetics
Sep 2000,
37
(9)
e18;
DOI:
10.1136/jmg.37.9.e18
Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay
KENJIRO
KOSAKI
,
RIKA
KOSAKI
,
WENDY P
ROBINSON
,
WILLIAM J
CRAIGEN
,
LISA G
SHAFFER
,
SEIJI
SATO
,
NOBUTAKE
MATSUO
Journal of Medical Genetics
Sep 2000,
37
(9)
e19;
DOI:
10.1136/jmg.37.9.e19
Deletion (2)(p14p15) in a child with severe neurodevelopmental delay
ISAM M
AMIR
,
KHALIL I
AL-TAWIL
,
MUNEEF M
AL-HATHAL
Journal of Medical Genetics
Sep 2000,
37
(9)
e21;
DOI:
10.1136/jmg.37.9.e21
Proximal 10q trisomy: a new case with anal atresia
F W F
LAM
,
W K
CHAN
,
S T S
LAM
,
W P
CHU
,
N S
KWONG
Journal of Medical Genetics
Sep 2000,
37
(9)
e24;
DOI:
10.1136/jmg.37.9.e24
Achondroplasia and nail-patella syndrome: the compound phenotype
M J
WRIGHT
,
M C
AIN
,
M V
CLOUGH
,
G A
BELLUS
,
O
HURKO
,
I
MCINTOSH
Journal of Medical Genetics
Sep 2000,
37
(9)
e25;
DOI:
10.1136/jmg.37.9.e25
Pages
« first
‹ previous
…
28
29
30
31
32
33
34
35
36
next ›
last »
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)