Genetics: the state of the art in Connecticut

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Pediatrics·2001

Glucose transporter type 1 deficiency: a study of two cases with video-EEG.

European journal of pediatrics·1999

Development of guidelines for treatment of children with phenylketonuria: report of a meeting at the National Institute of Child Health and Human Development held August 15, 1995, National Institutes of Health, Bethesda, Maryland.

Pediatrics·1999

Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors.

Pediatrics·1999

Tandem spectrometry in newborn screening.

Current opinion in pediatrics·1998

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

Journal of inherited metabolic disease·1997

Incidence of Hepatitis C Virus and Other Bloodborne Virus Infections Among Nonurban Residents of Fairfield and New Haven Counties, Connecticut Who Inject Drugs.

Connecticut medicine·2021

Calf Muscle Herniation Presenting Twelve Month After Dog Bite Injuries: A Case Report.

Connecticut medicine·2018

Paraneoplastic Demyelinating Neuropathy, a Multifactorial Disease and Approach to Management.

Connecticut medicine·2018

Snow-Shoveling-Induced Takotsubo Cardiomyopathy.

Connecticut medicine·2018

Culturosity: Fostering Cultural Awareness Among Faculty and Residents in a Community Teaching Hospital.

Connecticut medicine·2018

A Study of Self-Regulated Learning of Child Neurology for Medical Students.

Connecticut medicine·2018

Allele-specific expression modulates the immunological and cis-regulatory landscape of Parkinson's Disease.

Computers in biology and medicine·2026

Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort.

The British journal of dermatology·2026

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Journal of human genetics·2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human mutation·2026

Multi-omics Mendelian Randomization Prioritizes Neutrophil Extracellular Trap-related Genes Associated with Atrial Fibrillation Risk.

Endocrine, metabolic & immune disorders drug targets·2026

Developmental and cellular vulnerabilities underlie genetic architecture of schizophrenia.

Molecular psychiatry·2026

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Genetics: the state of the art in Connecticut

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Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Glucose transporter type 1 deficiency: a study of two cases with video-EEG.

Development of guidelines for treatment of children with phenylketonuria: report of a meeting at the National Institute of Child Health and Human Development held August 15, 1995, National Institutes of Health, Bethesda, Maryland.

Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors.

Tandem spectrometry in newborn screening.

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

Incidence of Hepatitis C Virus and Other Bloodborne Virus Infections Among Nonurban Residents of Fairfield and New Haven Counties, Connecticut Who Inject Drugs.

Calf Muscle Herniation Presenting Twelve Month After Dog Bite Injuries: A Case Report.

Paraneoplastic Demyelinating Neuropathy, a Multifactorial Disease and Approach to Management.

Snow-Shoveling-Induced Takotsubo Cardiomyopathy.

Culturosity: Fostering Cultural Awareness Among Faculty and Residents in a Community Teaching Hospital.

A Study of Self-Regulated Learning of Child Neurology for Medical Students.

Allele-specific expression modulates the immunological and cis-regulatory landscape of Parkinson's Disease.

Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort.

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Multi-omics Mendelian Randomization Prioritizes Neutrophil Extracellular Trap-related Genes Associated with Atrial Fibrillation Risk.

Developmental and cellular vulnerabilities underlie genetic architecture of schizophrenia.

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Genetics: the state of the art in Connecticut

Related Concept Videos

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