Neudle.com: genetic diagnosis prenatal

Differential
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abscess, intracerebral

acetazolamide

acetylcholinesterase

acid maltase deficiency

acid maltase deficiency, adult

acoustic neurinoma

acoustic neurinoma, bilateral

adrenoleukodystrophy, adult onset

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

advances in neurology

agenesis of corpus callosum

Aicardi-Goutieres syndrome

algorithm

alpha glucosidase

alpha-fetoprotein

alveolar hypoventilation

anterior horn cell disease

anticonvulsants

anticonvulsants, absorption

anticonvulsants, bioavailability

anticonvulsants, blood level determination of

anticonvulsants, compliance

anticonvulsants, subtherapeutic

anticonvulsants, teratogenicity of

anticonvulsants, untoward effects of

arteriovenous malformation

arteriovenous malformation, pulmonary

arthralgia

arylsulfatase B

ascites

aspartate aminotransferase

attention deficit disorder with hyperactivity

atypical

audiogram

auditory evoked brainstem potentials

autism

Babinski sign

baldness

basal ganglia, calcification of

bone marrow transplantation

brachial neuritis

brachial neuritis, acute

brachial neuritis, bilateral

brachial plexus neuropathy

brachial plexus neuropathy, bilateral

brachial plexus neuropathy, familial

brachial plexus neuropathy, recurrent

calcification, intracranial

cardiac surgery, hypothermia and circulatory arrest for

cardiac surgery, neurologic complications with

CAT scan, indications for

cataracts

cataracts, congenital

Central America

central nervous system, infection of

cerebellar ataxia, children

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral cortical atrophy

cerebral embolism

cerebral infarction

cerebral palsy

cerebral palsy, risk factors

cerebral palsy, work up

cerebro hepato renal syndrome

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, protein of

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, infancy and childhood

cerebrovascular accident, intrauterine

cerebrovascular accident, multiple

cerebrovascular accident, neonatal

cerebrovascular accident, recurrent

cerebrovascular disease

ceruloplasmin, serum

cesarean section

Charcot-Marie-Tooth

chilbran skin lesions

children

chorea

choroid plexus

choroid plexus, abnormality of

choroid plexus, cyst

chromosomal abnormality

chronic graft versus host disease

cleft lip

Clinical Pathologic Conference(C.P.C.)

congenital birth defects

congenital heart disease

congenital infection, viral

congenital malformation

congenital malformation, dilantin therapy causing

congenital malformation, non CNS

congestive heart failure

consanguinity

constipation

contractures, joint

controversies in neurology

copper metabolism, abnormal

cornea, abnormal

cornea, opacification in infancy-causes of

cornea, opacity of

corneal dystrophy

corpus callosum, atrophy of

counselling

creatine phosphokinase(CPK)elevated

cry, abnormal

cry, weak

cultured skin fibroblasts

cyanosis

cyst, porencephalic

deafness

degenerative diseases of CNS

dementia

dementia, childhood

demyelinating disease

dentate nuclei, lesion of

depression

developmental abnormality of brain

developmental disability

developmental evaluation

developmental milestones

developmental retardation

diagnostic criteria

diaphragmatic paralysis

diet

differential diagnosis

digits, abnormal

dilantin

dilantin, toxicity

disability, neurological

dissociated sensory loss

distal muscle weakness

dysarthria-clumsy hand syndrome

electrocardiogram, abnormal

electroencephalogram, abnormalities of

electroencephalogram, monitoring, continuous

electromyogram

electron microscopy

embolism, paradoxical

employment

encephalocele

encephalopathy

encephalopathy, neonatal

epidemiology of neurology

epileptic encephalopathy

extracorporeal membrane oxygenation

Fabry's disease

facial appearance, abnormal

facial expression abnormality

facial weakness

facial weakness, bilateral

failure to thrive

familial

fasciculation

fatty acid, elevated plasma content

fistula, arterio-venous

fistula, arterio-venous, dural

fistula, arterio-venous, dural, spinal

flavivirus

flow study, carotid artery

folic acid

fragile-X syndrome

fragile-X syndrome, carrier

gastrointestinal bleeding

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

glucocerebrosidase

glycogen storage disease

glycoprotein

granular osmiphilic material

gray matter

grimacing

growth hormone deficiency

growth retardation

Guillain Barre syndrome

hemiplegia, congenital

hemorrhage, intracranial, newborn

hemorrhage, periventricular

hepatic encephalopathy

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), presymptomatic

hepatomegaly

hepatosplenomegaly

hereditary hemorrhagic telangiectasia(HHT)

human T-lymphotropic virus type I(HTLV-I)

Huntington's chorea

Huntington's chorea, genetic counselling

Huntington's chorea, presymptomatic detection of

hydrocephalus

hydrocephalus, congenital

hydrocephalus, fetal

hydrocephalus, intrauterine

hyperactivity

hypercapnia

hyperphagia

hyperpyrexia, CNS disorder causing

hypopigmentation of skin

hypothyroidism, congenital

hypoxic-ischemic leukoencephalopathy

imbalance

immunohistochemistry

in situ hybridization

inborn errors of metabolism

inborn errors of metabolism, screening

infant, evaluation of

infection

infection, recurrent

intellectual deficit

intellectual deterioration

intelligence quotient

intelligence testing in children

interferon alpha

internet

intracranial hemorrhage

intrauterine

intrauterine growth retardation

intrauterine infection

intrauterine infection, viral

intrauterine infection, viral of CNS

intraventricular hemorrhage

Kayser-Fleischer ring

klippel feil syndrome

Krabbe's disease

kyphoscoliosis, neurologic causes of

lamotrigine

learning disability

learning disability, in children

leg weakness, bilateral

lipid storage disorder of CNS

Lisch nodules

lissencephaly

liver disease

liver function enzymes

lysosomal storage disease

lysosomes, abnoral

macrocephaly

malformation, CNS, congenital

malformation, vascular, cerebral

medical-legal aspects of neurology

meningocele

mental retardation

mental retardation, familial

metabolic disorder, primary

metachromatic leukodystrophy

microcephaly

micrognathia

migraine

Miller-Dieker syndrome

misdiagnosis

mitral valve prolapse

molecular genetics

molybdenum cofactor deficiency

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, fetal

MRI, indications for

MRI, intrauterine

mucopolysaccharidoses

multiple sclerosis, misdiagnosis

muscle atrophy, focal

muscle atrophy, progressive

muscle biopsy

muscle diseases, characteristics of

muscle hypertrophy

muscle pain

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, Becker

muscular dystrophy, cardiovascular changes with

muscular dystrophy, classification

muscular dystrophy, congenital

muscular dystrophy, Duchenne

muscular dystrophy, Duchenne, carrier

muscular dystrophy, Duchenne, neonatal screening

muscular dystrophy, facioscapulohumeral

muscular dystrophy, limb-girdle

myelomeningocele

myelopathy

myelopathy, chronic progressive

myotonia dystrophica, classification

myotonia dystrophica, type 2

nasal bridge, wide

nausea and vomiting

neonatal epilepsy syndromes

neonatal epileptic encephalopathy

neoplasm, primary of CNS

nerve conduction studies

neurologic disease, diagnoses of

neurologic evaluation

neurologic examination

neurologic practice

neurologic signs

neuronal ceroid-lipofuscinosis

neuronal migration disorder

neuropathology

neuropathy

neuropathy, hereditary peripheral

neuropathy, peripheral

neurosis

newborn, evaluation of

nystagmus, hereditary

nystagmus, periodic

obesity

obstetric neurologic injuries

oculopharyngeal muscular dystrophy

ornithine transcarbamylase deficiency

parasitic infection, CNS

paresthesias

Parkinsonism syndrome

paroxysmal neurologic deficits

partruition

pathology

patient information and support

penicillamine

percussion induced muscle contraction

periventricular leukomalacia

pleocytosis of cerebrospinal fluid

polymerase chain reaction

polyneuropathy, chronic inflammatory demyelinating

Pompe's disease of glycogen storage

post hemorrhagic hydrocephalus

postoperative neurologic complications

Prader-Labhart-Willi syndrome

pramipexole

precipitating factors

pregnancy, anticonvulsants during

pregnancy, neurologic complications in

premature infant

premature infant, problems in

prenatal

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

prognosis

progressive neurologic disorder

proteinuria

proximal muscle atrophy

proximal myotonic myopathy

pruritus

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

psychosis

ptosis

puerperium

pyramidal tract dysfunction

restless leg syndrome

retinal degeneration

retinal hamartoma

reversible neurologic disorder

scoliosis, neurologic association with

screaming

screening

seizure

seizure, complications following

seizure, diagnosis of

seizure, treatment of

seizure, treatment of, monotherapy

skin, lesions in neurologic disorders

slit lamp examination

SMN1 gene

South America

Southern immunoblot test

speech disorder

speech disorder, childhood

sphingolipodoses

spina bifida

spinal cord

spinal cord, compression of

spinal cord, lesion of

spinal cord, vascular malformation of

spinal muscular atrophy

spinal muscular atrophy, classification

splenomegaly

spongy degeneration of brain

startle reaction

stem cell transplantation

strabismus

subarachnoid fluid collection, benign

subarachnoid hemorrhage

subdural hematoma

subdural hematoma, neonates and infants

subependymal nodules

suck, poor

sudden infant death syndrome

temporalis muscle wasting

temporalis muscle weakness

temporomandibular joint, dislocation

testicular enlargement

thrombocytopenia

thyroxine

tissue plasminogen activator, intravenous

titinopathy

tongue, enlarged

tongue, fasciculations of

tongue, protrusion of

tongue, weakness

toxoplasmosis, CNS

toxoplasmosis, congenital

trauma

treatment of neurologic disorder

tremor

tremulousness

trichopoliodystrophy

trientine dihydrochloride

trinucleotide repeats

tuberous sclerosis, screening for

twins

ultrasonography

ultrasonography, head

ultrasonography, head, fetus-neonate

umbilical-cord blood transplantation

undiagnosed

urea-cycle enzymopathies

uric acid, low

urine test for metabolic disorders

vertigo, episodic

very long chain fatty acids

vitamin supplementation

walking, difficulty with

weakness

weakness, congenital

weakness, progressive

weakness, proximal

weight loss

Werdnig-Hoffman disease

Western immunoblot test

x-linked hydrocephalus

x-linked mental retardation

Zika virus infection

zinc

Showing articles 1400 to 1450 of 2198 << Previous Next >>

Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
Ann Neurol 31:663-668, Ryan,S.G.,et al, 1992

Wernicke's Encephalopathy and Central Pontine Myelinolysis Associated with Hyperemesis Gravidarum
BMJ 305:517-518, Bergin,P.S.&Harvey,P., 1992

Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 1992

The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
Ann Neurol 32:207-214, Rowland,L.P., 1992

Wilson's Disease:Current Status
Am J Med 92:643-654, Yarze,J.C.,et al, 1992

CNS Complications of Cocaine Abuse:Prevalence, Pathophysiology, and Neuroradiology
AJR 159:137-147, Brown,E.,et al, 1992

Presymptomatic Testing for Huntington's Disease in the United Kingdom
BMJ 304:1593-1596, Tyler,A.,et al, 1992

New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992

Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992

Reversed Cerebral Asymmetry in Women with Breast Cancer
Lancet 339:523-524, Sandson,T.A.,et al, 1992

Progressive Language Disorder Due to Lobar Atrophy
Ann Neurol 31:174-183, Snowden,J.S.,et al, 1992

Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
Arch Neurol 49:170-173, Malik,S.,et al, 1992

Clinicopath Conf
Pick's Diseae, Case 6-1992, NEJM 326:397-405992., , 1992

Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
JAMA 267:1226-1231, Glenn,G.M.,et al, 1992

Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992

MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992

Postpartum Dissecting Aneurysm of the Basilar Artery
Stroke 23:114-116, Van de Kelft,E.,et al, 1992

A Study of Twins and Stroke
Stroke 23:221-223, Brass,L.M.,et al, 1992

Delayed Diagnosis of Juvenile Myoclonic Epilepsy
JNNP 55:497-499, Grunewald,R.A.,et al, 1992

Serial Changes of Cerebral Glucose Metab & Caudate Size in Persons at Risk for Huntington's Dis
Arch Neurol 49:1161-1167, Grafton,S.T.,et al, 1992

Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
Brain 115:979-989, Harding,A.E.,et al, 1992

Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Magnetic Resonance Imaging of the Brain in Congenital Rubella Virus and Cytomegalovirus Infections
Neuroradiology 33:239-242, Sugita,K.,et al, 1991

Maternal Cocaine Abuse:The Spectrum of Radiologic Abnormalities in the Neonatal CNS
AJR 157:1105-1110, Heier,L.A.,et al, 1991

Familial Association of Intracranial Aneurysms and Cervical Artery Dissections
Stroke 22:1426-1430, Schievink,W.I.,et al, 1991

Cerebral Haemorrhage and Berry Aneurysm:Evidence from a Family for a Pattern of Autosomal Dominant Inheritance
JNNP 54:838-840, Shinton,R.,et al, 1991

Conjugal Multiple Sclerosis:A Clinical and Laboratory Study
Neurol 41:1320-1321, Finelli,P.F., 1991

Cervical Dystonia:Clinical Findings and Associated Movement Disorders
Neurol 41:1088-1091, Jankovic,J.,et al, 1991

Oral Anticoagulant Drugs
NEJM 324:1865-1875, Hirsh,J., 1991

Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
NEJM 324:1091-1097, Hsiao,K.,et al, 1991

The First Report of Cluster Headache in Identical Twins
Neurol 41:761, Couturier,E.G.M.,et al, 1991

Estrogens, Progestins, and Headache
Neurol 41:786-793, Silberstein,S.D.&Merriam,G.R., 1991

Genetic Predisposition to Iatrogenic Creutzfeldt-Jakob Disease
Lancet 337:1441-1442, Collinge,J.,et al, 1991

Prevalence and Incidence of Becker Muscular Dystrophy
Lancet 337:1022-1024, Bushby,K.M.D.,et al, 1991

Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
Lancet 337:1311-1313, Hammans,S.R.,et al, 1991

Autosomal Recessive Distal Dystrophy
Neurol 41:1365-1370, Barohn,R.J.,et al, 1991

Welander's Distal Myopathy:Clinical Neurophysiol & Muscle Biopsy Obser in Young & Middle Aged Adults with Early Symptoms
JNNP 54:494-498, Borg,K., 1991

Parental Sex Effect in Familial Amyotrophic Lateral Sclerosis
Neurol 41:1292-1294, Leone,M., 1991

Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
NEJM 324:1381-1384, 1430-14321991., Siddique,T.,et al, 1991

Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991

Brain Tumors
NEJM 324:1471-1476, 1555-15641991., Black,P.McL., 1991

The Phenotype of the X-Linked Dystonia-Parkinsonism Syndrome, An Assessment of 42 Cases in the Philippines
Medicine 70:179-187, Lee,J.V.,et al, 1991

Preclinical Detection of Parkinson's Disease
Neurology Suppl 2, 41:5-921991., Koller,W.C.&Langston,J.W., 1991

MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991

Globoid Cell Leukodystrophy:A Family with Both Late-Infantile and Adult Type
Neurol 41:1382-1384, Verdru,P.,et al, 1991

Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
NEJM 324:1318-1325, Charnas,L.R.,et al, 1991

Use of CT, MRI, & Localized 1H MR Spectroscopy in Canavan's Disease:A Case Report
Ann Neurol 30:106-110, Marks,H.G.,et al, 1991

Neonatal Opiate Abstinence Syndrome in Term and Preterm Infants
J Pediatr 118:933-937, Doberczak,T.M.,et al, 1991

Showing articles 1400 to 1450 of 2198 << Previous Next >>