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One or more keywords matched the following items that are connected to Strauss, Kevin
Item TypeName
Concept Adolescent
Concept Child, Preschool
Concept Child
Concept Child Development Disorders, Pervasive
Academic Article Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
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 Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells.
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 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 Hepatic Parenchymal Injury in Crigler-Najjar Type I.
Academic Article Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.
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 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 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 Early progenitor cell marker expression distinguishes type II from type I focal cortical dysplasias.
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 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 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 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 Genetic mapping and exome sequencing identify variants associated with five novel diseases.
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 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 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 ?-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
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 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 APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
Academic Article Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
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.
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