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Strauss, Kevin
One or more keywords matched the following items that are connected to Strauss, Kevin
Item TypeName
Concept Isaacs Syndrome
Concept Syndrome
Concept Ellis-Van Creveld Syndrome
Concept Nephrotic Syndrome
Concept Myasthenic Syndromes, Congenital
Concept Kartagener Syndrome
Concept Crigler-Najjar Syndrome
Concept Immunologic Deficiency Syndromes
Concept Malabsorption Syndromes
Concept Usher Syndromes
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 Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.
Academic Article Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Academic Article Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.
Academic Article Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
Academic Article Hepatic Parenchymal Injury in Crigler-Najjar Type I.
Academic Article Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
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 Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia.
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 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 Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Academic Article Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
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 APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
Academic Article Disease burden and management of Crigler-Najjar syndrome: Report of a world registry.
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