about
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionA recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.The gene for glycogen-storage disease type 1b maps to chromosome 11q23.Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutationCharacterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim ArabChildhood obesityCalmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain FunctionMutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence.Parathyroid development and the role of tubulin chaperone E.Thyroglossal duct carcinoma in children: case presentation and review of the literature.Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadismNerve growth factor-tyrosine kinase A pathway is involved in thermoregulation and adaptation to stress: studies on patients with hereditary sensory and autonomic neuropathy type IV.Total oxidant-scavenging capacities of plasma from glycogen storage disease type Ia patients as measured by cyclic voltammetry, FRAP and luminescence techniques.Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency.Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen.Once versus twice daily injections of growth hormone in children with idiopathic short stature.Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.CT findings in neonatal hypothermia.The influence of diet and/or exercise and parental compliance on health-related quality of life in obese children.Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.Increase of serum lipoprotein (a) levels during growth hormone therapy in normal short children.Chromosomal microdeletions and genes' functions: a cluster of chromosomal microdeletions and the deleted genes' functions.The childhood component of the ICP model is appropriate for growth analysis of short Israeli children.Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency.Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.Increase in the incidence of type 1 diabetes in Israeli children following the Second Lebanon WarTMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndromeLipoamide Dehydrogenase Deficiency Due to a Novel Mutation in the Interface DomainAdrenal insufficiency after achalasia in the triple-A syndromePrenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP)Differences in cord serum retinol concentrations by ethnic origin in the Negev (southern Israel)Prenatal ultrasonic diagnosis of nonhypertrophic pyloric stenosis associated with intestinal malrotationA novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Eli Hershkovitz
@ast
Eli Hershkovitz
@en
Eli Hershkovitz
@es
Eli Hershkovitz
@nl
Eli Hershkovitz
@sl
type
label
Eli Hershkovitz
@ast
Eli Hershkovitz
@en
Eli Hershkovitz
@es
Eli Hershkovitz
@nl
Eli Hershkovitz
@sl
prefLabel
Eli Hershkovitz
@ast
Eli Hershkovitz
@en
Eli Hershkovitz
@es
Eli Hershkovitz
@nl
Eli Hershkovitz
@sl
P1053
F-1922-2012
P106
P21
P31
P496
0000-0003-1624-1960