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One or more keywords matched the following items that are connected to Strauss, Kevin
Item TypeName
Concept Kruppel-Like Transcription Factors
Concept Tandem Mass Spectrometry
Concept Piperazines
Concept Tooth Abnormalities
Concept Hyperhomocysteinemia
Concept Osteochondrodysplasias
Concept Disease Models, Animal
Concept Fibroblasts
Concept Maryland
Concept DNA Methylation
Concept Apoptosis
Concept Ki-67 Antigen
Concept Protein Transport
Concept Necrosis
Concept Sequence Analysis, DNA
Concept Spastic Paraplegia, Hereditary
Concept Brain Diseases, Metabolic, Inborn
Concept Methionine
Concept Transforming Growth Factor beta
Concept Survival Rate
Concept Health Services Accessibility
Concept Blood-Brain Barrier
Concept Kaplan-Meier Estimate
Concept Genetic Association Studies
Concept Caspase 2
Concept Evoked Potentials, Auditory, Brain Stem
Concept Methylenetetrahydrofolate Reductase (NADPH2)
Concept Vasoconstriction
Concept Food, Formulated
Concept Pedigree
Concept Humans
Concept Autoimmune Diseases
Concept Body Weights and Measures
Concept Sequence Analysis, RNA
Concept Prosencephalon
Concept Ursodeoxycholic Acid
Concept Bone Diseases
Concept Progesterone Reductase
Concept Mitochondria
Concept Brain
Concept Flow Cytometry
Concept Aged, 80 and over
Concept Amino Acids, Branched-Chain
Concept Magnetic Resonance Spectroscopy
Concept Glutamic Acid
Concept Hernia, Hiatal
Concept HeLa Cells
Concept Heterozygote
Concept Hip Dislocation, Congenital
Concept Genetic Therapy
Concept Cell Nucleus
Concept Magnetic Resonance Imaging
Concept Age of Onset
Concept Spinal Fusion
Concept Yeasts
Concept Hair
Concept Microcephaly
Concept Bone and Bones
Concept Nephrosis
Concept Gyrus Cinguli
Concept Brain Diseases, Metabolic
Concept PC12 Cells
Concept Imidazoles
Concept Polymorphism, Single Nucleotide
Concept Telomere
Concept Microscopy, Electron, Transmission
Concept Creatine
Concept Ubiquitination
Concept Cadherins
Concept Protestantism
Concept Organogenesis
Concept Hereditary Sensory and Autonomic Neuropathies
Concept Ribonucleoproteins
Concept Sensitivity and Specificity
Concept Axons
Concept Homocystinuria
Concept Genetics, Population
Concept Cell Survival
Concept Gonadal Dysgenesis
Concept Survival of Motor Neuron 2 Protein
Concept Registries
Concept Dependovirus
Concept Treatment Outcome
Concept Depressive Disorder, Major
Concept Cytarabine
Concept Glycine N-Methyltransferase
Concept Golgi Apparatus
Concept Betaine
Concept Lissencephaly
Concept Bone Marrow Transplantation
Concept Genomics
Concept Sudden Infant Death
Concept Mannitol
Concept Healthcare Disparities
Concept Arginine
Concept Liver Function Tests
Concept Ketone Oxidoreductases
Concept Depression
Concept Genetic Testing
Concept Amino Acids
Concept Amino Acid Substitution
Concept Genomic Imprinting
Concept Open Reading Frames
Concept Erythrocytes
Concept Glutarates
Concept Wisconsin
Concept Aged
Concept Dendritic Cells
Concept Genes
Concept Ellis-Van Creveld Syndrome
Concept Magnetic Resonance Angiography
Concept Genes, RAG-1
Concept Amino Acid Sequence
Concept Algorithms
Concept Corpus Callosum
Concept Neurogenesis
Concept Saline Solution, Hypertonic
Concept Mice, Knockout
Concept Cohort Studies
Concept DNA, Mitochondrial
Concept Cholesterol, LDL
Concept Hearing Loss, Central
Concept Impulsive Behavior
Concept Adrenal Hyperplasia, Congenital
Concept Acute Disease
Concept Chemical and Drug Induced Liver Injury
Concept Isoleucine
Concept DNA Copy Number Variations
Concept Blotting, Western
Concept Blood Volume
Concept Injections, Spinal
Concept Radiography
Concept Cardiac Surgical Procedures
Concept Nephrotic Syndrome
Concept Arkansas
Concept Genetics, Medical
Concept Heart Defects, Congenital
Concept Genetic Predisposition to Disease
Concept Malformations of Cortical Development
Concept Endoribonucleases
Concept Pathology, Molecular
Concept Biomarkers
Concept Membrane Microdomains
Concept AMP-Activated Protein Kinases
Concept Mitosis
Concept Clinical Protocols
Concept Infusions, Intravenous
Concept Chromatography, Liquid
Concept Musculoskeletal Abnormalities
Concept Parkinsonian Disorders
Concept Anemia, Hemolytic
Concept Cysteine Endopeptidases
Concept Immunoprecipitation
Concept Dystonia
Concept Homozygote
Concept Chromosomes, Human, Pair 7
Concept Mice
Concept Cell Differentiation
Concept Propionic Acidemia
Concept Clinical Trials as Topic
Concept Alanine
Concept Genetic Variation
Concept Epilepsy
Concept Nucleosomes
Concept Charcot-Marie-Tooth Disease
Concept Survival of Motor Neuron 1 Protein
Concept Encephalitis
Concept Echocardiography
Concept Gene Expression Regulation, Developmental
Concept Electroencephalography
Concept Haplotypes
Concept Serum Albumin
Concept Conserved Sequence
Concept Octamer Transcription Factor-3
Concept Aspartic Acid
Concept Tryptophan
Concept Behavior, Animal
Concept Myasthenic Syndromes, Congenital
Concept Exons
Concept Furosemide
Concept Mutagenesis, Insertional
Concept Mice, Inbred C57BL
Concept Dietary Proteins
Concept Lysine
Concept COP-Coated Vesicles
Concept Kartagener Syndrome
Concept Retrospective Studies
Concept Gene Expression Regulation
Concept Psychomotor Agitation
Concept Computational Biology
Concept Cell Movement
Concept Cholestasis, Intrahepatic
Concept Laminin
Concept Mutation
Concept Neonatal Screening
Concept Dwarfism
Concept Cell Separation
Concept S-Adenosylhomocysteine
Concept T-Lymphocytes
Concept Glomerulosclerosis, Focal Segmental
Concept Reflex, Stretch
Concept Crigler-Najjar Syndrome
Concept Antigens, CD
Concept Homocysteine
Concept Dyskeratosis Congenita
Concept Signal Transduction
Concept DNA Mutational Analysis
Concept Bile Acids and Salts
Concept Linkage Disequilibrium
Concept Adenine Nucleotide Translocator 1
Concept Severity of Illness Index
Concept Attention
Concept Cell Proliferation
Concept Pilot Projects
Concept Spinal Cord
Concept Vitamin B 12 Deficiency
Concept Hyperlipoproteinemia Type II
Concept Genetic Diseases, Inborn
Concept Brazil
Concept Growth and Development
Concept Membrane Transport Proteins
Concept Sweetening Agents
Concept Fibrinogen
Concept Protein Structure, Tertiary
Concept Lymphocytes
Concept ATP-Dependent Proteases
Concept Longitudinal Studies
Concept Consanguinity
Concept Active Transport, Cell Nucleus
Concept Proto-Oncogene Proteins c-myc
Concept Valine
Concept Autoantibodies
Concept Parents
Concept Fatal Outcome
Concept Leucine
Concept Catalytic Domain
Concept Amino Acid Metabolism, Inborn Errors
Concept Alu Elements
Concept Cell Cycle
Concept Positron-Emission Tomography
Concept Health Care Costs
Concept Hirschsprung Disease
Concept Liver Transplantation
Concept S-Adenosylmethionine
Concept Respiration, Artificial
Concept Thymus Gland
Concept Cystathionine beta-Synthase
Concept Population Surveillance
Concept Atherosclerosis
Concept Molecular Diagnostic Techniques
Concept Lymphocyte Activation
Concept Temporal Lobe
Concept Diffusion Magnetic Resonance Imaging
Concept Cerebrovascular Circulation
Concept Chromosomes, Human, Pair 19
Concept Glycosphingolipids
Concept Maple Syrup Urine Disease
Concept Genome, Human
Concept Hearing Loss, Sensorineural
Concept Histidine
Concept Genotype
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 20
Concept Chromosomes, Human, Pair 5
Concept Graft Rejection
Concept Prevalence
Concept Case-Control Studies
Concept Pennsylvania
Concept Tight Junctions
Concept Eye Abnormalities
Concept Apgar Score
Concept Reproducibility of Results
Concept Antibody Specificity
Concept Respiratory Rate
Concept Sialic Acid Storage Disease
Concept Prospective Studies
Concept Ether-A-Go-Go Potassium Channels
Concept Cross-Sectional Studies
Concept Rats
Concept Chromosome Mapping
Concept Epilepsies, Partial
Concept Apolipoproteins B
Concept Codon, Nonsense
Concept Cost of Illness
Concept Genome-Wide Association Study
Concept Immunization
Concept Spinal Muscular Atrophies of Childhood
Concept Cross-Cultural Comparison
Concept HLA Antigens
Concept Symporters
Concept Embryo, Nonmammalian
Concept Histocompatibility Testing
Concept Guanine Nucleotide Exchange Factors
Concept Tomography, X-Ray Computed
Concept Organic Anion Transporters
Concept G(M3) Ganglioside
Concept Graft Survival
Concept Oligonucleotide Array Sequence Analysis
Concept Middle Aged
Concept Gene Frequency
Concept Heterochromatin
Concept Polymerase Chain Reaction
Concept Adaptor Proteins, Vesicular Transport
Concept United States
Concept Models, Neurological
Concept N-Acetylgalactosaminyltransferases
Concept Usher Syndromes
Concept Corpus Striatum
Concept Long Interspersed Nucleotide Elements
Concept Arterioles
Concept Gene Deletion
Concept Dopamine Plasma Membrane Transport Proteins
Concept Risk Assessment
Concept Genetic Vectors
Concept Putamen
Concept Basal Ganglia Diseases
Concept Mutation, Missense
Concept Risk
Concept Gangliosides
Concept Kernicterus
Concept Risk Factors
Concept Bilirubin
Concept Weight Gain
Concept Young Adult
Concept Craniofacial Abnormalities
Concept CRADD Signaling Adaptor Protein
Concept Base Sequence
Concept Alleles
Concept Abnormalities, Multiple
Concept Genes, Recessive
Concept Follow-Up Studies
Concept Cloning, Molecular
Concept Autopsy
Concept Zebrafish
Concept Diffusion Tensor Imaging
Concept Amyloid beta-Peptides
Concept Siblings
Concept 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Concept Body Composition
Concept Immunohistochemistry
Concept Cleft Palate
Concept Comorbidity
Concept Frameshift Mutation
Concept Cell Line, Tumor
Concept Chromosomes, Human, Pair 2
Concept Catheterization
Concept Immunoblotting
Concept RNA-Binding Proteins
Concept Gene Dosage
Concept Glucose
Concept Deafness
Concept Hair Cells, Auditory
Academic Article Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
Academic Article Diagnosis and treatment of maple syrup disease: a study of 36 patients.
Academic Article Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease.
Academic Article Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Academic Article Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.
Academic Article Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.
Academic Article Type I glutaric aciduria, part 1: natural history of 77 patients.
Academic Article Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.
Academic Article Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.
Academic Article Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
Academic Article Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
Academic Article Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells.
Academic Article Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).
Academic Article Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice.
Academic Article Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Academic Article Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Academic Article Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.
Academic Article Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Academic Article TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Academic Article Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Academic Article Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Academic Article Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
Academic Article Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy.
Academic Article Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.
Academic Article Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Academic Article Type I glutaric aciduria, part 2: a model of acute striatal necrosis.
Academic Article Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
Academic Article Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
Academic Article Glutaric aciduria type 1: a clinician's view of progress.
Academic Article Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.
Academic Article Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.
Academic Article Genetics, medicine, and the Plain people.
Academic Article Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.
Academic Article Classical maple syrup urine disease and brain development: principles of management and formula design.
Academic Article Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
Academic Article A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Academic Article Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases.
Academic Article Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
Academic Article Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.
Academic Article Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx.
Academic Article Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia.
Academic Article Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience.
Academic Article Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
Academic Article Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
Academic Article A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
Academic Article One community's effort to control genetic disease.
Academic Article Biochemical correlates of neuropsychiatric illness in maple syrup urine disease.
Academic Article A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
Academic Article STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice.
Academic Article Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Academic Article CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Academic Article Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.
Academic Article Living related transplantation for MSUD--caution, or a new path forward?
Academic Article Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.
Academic Article Heritability of complex white matter diffusion traits assessed in a population isolate.
Academic Article Living related versus deceased donor liver transplantation for maple syrup urine disease.
Academic Article A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.
Academic Article A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
Academic Article Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.
Academic Article Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
Academic Article Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
Academic Article Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Academic Article Genomic diagnostics within a medically underserved population: efficacy and implications.
Academic Article Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Academic Article Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases.
Academic Article Domino liver transplantation for select metabolic disorders: Expanding the living donor pool.
Academic Article Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives.
Academic Article Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.
Academic Article Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation.
Academic Article Branched-chain a-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Academic Article Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder.
Academic Article Clinical and genetic validity of quantitative bipolarity.
Academic Article De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Academic Article Liver transplant for inherited metabolic disease among siblings.
Academic Article Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Academic Article Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A?>?G (p.Asn536Asp) variant propionic acidemia.
Academic Article Orthopaedic manifestations of glutaric acidemia Type 1.
Academic Article AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.
Academic Article Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine Disease.
Academic Article Long-term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience.
Academic Article Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder.
Academic Article Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.
Academic Article Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.
Academic Article APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
Academic Article Gangliosides and hearing.
Concept Autism Spectrum Disorder
Concept Erlotinib Hydrochloride
Concept Loss of Function Mutation
Concept Catheters
Concept HEK293 Cells
Concept Haploinsufficiency
Concept High-Throughput Nucleotide Sequencing
Concept Carotid Intima-Media Thickness
Concept Exome
Concept Telomere Homeostasis
Concept Stereocilia
Concept End Stage Liver Disease
Concept Megalencephaly
Concept Agenesis of Corpus Callosum
Concept Primary Cell Culture
Concept Amish
Concept RNA, Long Noncoding
Concept Proteolysis
Concept Wnt Signaling Pathway
Concept Pulse Wave Analysis
Concept Apc7 Subunit, Anaphase-Promoting Complex-Cyclosome
Concept White Matter
Concept Gray Matter
Academic Article Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
Academic Article Disease burden and management of Crigler-Najjar syndrome: Report of a world registry.
Academic Article Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Academic Article Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy.
Academic Article Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.
Academic Article Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.
Academic Article Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy.
Academic Article Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria.
Academic Article Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery.
Academic Article WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Academic Article Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.
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