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Journal of Medical Genetics, ISSN 0022-2593, 08/2018, Volume 55, Issue 8, pp. 515 - 521
Journal Article
Alcoholism: Clinical and Experimental Research, ISSN 0145-6008, 10/2012, Volume 36, Issue 10, pp. 1811 - 1819
Background Most children who are exposed to large quantities of alcohol in utero do not develop fetal alcohol syndrome (FAS). Population‐based prospective data... 
Pregnancy | Neurodevelopment | Alcohol | Fetal Alcohol Spectrum Disorders | Growth Restriction | Growth restriction | Fetal alcohol spectrum disorders | DIAGNOSIS | RISK-FACTORS | SPECTRUM DISORDERS | BINGE-DRINKING | RATS | SUBSTANCE ABUSE | IDENTIFICATION | ATTENTION-DEFICIT HYPERACTIVITY | FETAL | Nervous System Malformations - chemically induced | Prevalence | Prospective Studies | Birth Weight - drug effects | Follow-Up Studies | Prenatal Exposure Delayed Effects - epidemiology | Fetal Alcohol Spectrum Disorders - diagnosis | Humans | Birth Weight - physiology | Child, Preschool | Infant | Male | Muscular Atrophy - chemically induced | Prenatal Exposure Delayed Effects - diagnosis | Young Adult | Fetal Alcohol Spectrum Disorders - epidemiology | Facies | Abnormalities, Multiple - epidemiology | Frontal Lobe - growth & development | Muscular Atrophy - diagnosis | Female | Craniofacial Abnormalities | Child | Infant, Newborn | Muscular Atrophy - epidemiology | Abnormalities, Multiple - chemically induced | Alcohol Drinking - adverse effects | Nervous System Malformations - epidemiology | Alcohol Drinking - epidemiology | Abnormalities, Multiple - diagnosis | Frontal Lobe - drug effects | Adolescent | Nervous System Malformations - diagnosis | Frontal Lobe - abnormalities | Prenatal Exposure Delayed Effects - chemically induced | Cohort Studies | Fetal alcohol syndrome | Pregnant women | Growth | Analysis | Central nervous system | Effect of alcohol on | Fetus | Drinking of alcoholic beverages | Beverages | Prevalence studies (Epidemiology) | Alcohol use
Journal Article
Journal Article
Revista médica de Chile, ISSN 0034-9887, 01/2016, Volume 144, Issue 1, pp. 83 - 93
Journal Article
Genetics and Molecular Biology, ISSN 1415-4757, 01/2015, Volume 38, Issue 1, pp. 30 - 36
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1),... 
Cerebrotendinous xanthomatosis | Mutation | Splicing | Exon skipping | mutation | Cerebrotendinous Xanthomatosis | exon skipping | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | BILE-ACID SYNTHESIS | splicing | MUTATIONS | Human and Medical Genetics
Journal Article
Revista Medica de Chile, ISSN 0034-9887, 2016, Volume 144, Issue 1, pp. 83 - 93
Journal Article
Revista médica de Chile, ISSN 0034-9887, 01/2016, Volume 144, Issue 1, pp. 83 - 93
Journal Article
REVISTA MEDICA DE CHILE, ISSN 0034-9887, 01/2016, Volume 144, Issue 1, pp. 83 - 93
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2007, Volume 36, Issue 6, pp. 421 - 423
The likelihood of coexistence in the same patient of myasthenia gravis and myotonic dystrophy has been estimated at 1 in 40 million. The case of a patient in... 
Pediatrics | Neurology | PEDIATRICS | PATIENT | REPEAT | CLINICAL NEUROLOGY | CTG | Myasthenia Gravis - complications | Myotonic Dystrophy - complications | Myotonin-Protein Kinase | Pedigree | Humans | Adolescent | Protein-Serine-Threonine Kinases - genetics | Myotonic Dystrophy - genetics | Female
Journal Article
Revista chilena de pediatría, ISSN 0370-4106, 06/2012, Volume 83, Issue 3, pp. 258 - 261
Las transaminasas que comúnmente se utilizan en clínica, glutámico oxalacética (GOT) y glutámico pirúvica (GPT) son producidas en varios tejidos del organismo... 
PEDIATRICS
Journal Article
Revista chilena de pediatría, ISSN 0370-4106, 06/2012, Volume 83, Issue 3, pp. 258 - 261
Journal Article
Genetics and Molecular Biology, ISSN 1678-4685, 03/2015, Volume 38, Issue 1, pp. 30 - 36
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1),... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
Revista Chilena de Pediatria, ISSN 0370-4106, 06/2012, Volume 83, Issue 3, pp. 258 - 261
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 2004, Volume 144, Issue 3, pp. 338 - 343
Journal Article