Search Results - "Hershkovitz, E"

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  1. 1

    Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities by Hazan, G, Hershkovitz, E, Staretz-Chacham, O

    Published in Orphanet journal of rare diseases (25-11-2020)
    “…Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most…”
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  2. 2

    Pulmonary involvement in Niemann-Pick C type 1 by Staretz-Chacham, Orna, Aviram, M., Morag, I., Goldbart, A., Hershkovitz, E.

    Published in European journal of pediatrics (01-11-2018)
    “…Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular…”
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  3. 3

    Adrenal function following ACTH therapy for infantile spasms: A retrospective study by Bistritzer, J., Noyman, I., Hazan, G., Hershkovitz, E., Haim, A.

    Published in Clinical neurology and neurosurgery (01-08-2020)
    “…•ACTH is an effective treatment in infantile spasms, but the risk for secondary adrenal insufficiency hasn’t been investigated enough.•In our study we wanted…”
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  4. 4

    4H to 3C Polytypic Transformation in Al+ Implanted SiC During High Temperature Annealing by Kuebler, L., Hershkovitz, E., Kouzminov, D., Gossmann, H.-J., Charnvanichborikarn, S., Hatem, C., Kim, H., Jones, K. S.

    Published in Electronic materials letters (01-05-2024)
    “…Polytypism in SiC has created interest and opportunity for device heterostructures and bandgap engineering in power electronic applications. As each SiC…”
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    Prevalence of Heteroepitaxial Recrystallization in the Low Solvus High Refractory (LSHR) γ–γ′ Superalloy by Lee, Y., Hershkovitz, E., Kim, H., Wertz, K. N., Payton, E. J., Miller, V. M.

    “…Heteroepitaxial recrystallization (HeRX) is a recently discovered recrystallization mechanism that can occur during thermomechanical processing of Ni-base…”
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    TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome by Spiegel, Ronen, Khayat, Morad, Shalev, Stavit A, Horovitz, Yoseph, Mandel, Hanna, Hershkovitz, Eli, Barghuti, Flora, Shaag, Avraham, Saada, Ann, Korman, Stanley H, Elpeleg, Orly, Yatsiv, Ido

    Published in Journal of medical genetics (01-03-2011)
    “…The TMEM70 gene defect was recently identified as a novel cause of autosomal recessive ATP synthase deficiency. Most of the 28 patients with TMEM70 disorder…”
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    Automated identification of RNA conformational motifs: theory and application to the HM LSU 23S rRNA by Hershkovitz, Eli, Tannenbaum, Emmanuel, Howerton, Shelley B., Sheth, Ajay, Tannenbaum, Allen, Williams, Loren Dean

    Published in Nucleic acids research (01-11-2003)
    “…We develop novel methods for recognizing and cataloging conformational states of RNA, and for discovering statistical rules governing those states. We focus on…”
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  11. 11

    Total oxidant-scavenging capacities of plasma from glycogen storage disease type Ia patients as measured by cyclic voltammetry, FRAP and luminescence techniques by Koren, E, Lipkin, J, Klar, A, Hershkovitz, E, Ginsburg, I, Kohen, R

    Published in Journal of inherited metabolic disease (01-10-2009)
    “…It has been suggested that the very low incidence of atherosclerosis in glycogen storage disease type Ia (GSD Ia) subjects might be attributed to elevated…”
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  12. 12

    Statistical analysis of RNA backbone by Hershkovitz, E., Sapiro, G., Tannenbaum, A., Williams, L.D.

    “…Local conformation is an important determinant of RNA catalysis and binding. The analysis of RNA conformation is particularly difficult due to the large number…”
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  13. 13

    Continuous glucose monitoring in children with glycogen storage disease type I by Hershkovitz, E., Rachmel, A., Ben‐Zaken, H., Phillip, M.

    Published in Journal of inherited metabolic disease (01-12-2001)
    “…Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting…”
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    Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review by Hershkovitz, Eli, Parvari, Ruti, Diaz, George A, Gorodischer, Rafael

    “…Hypoparathyroidism, retardation, and dysmorphism (HRD) is a newly recognized genetic syndrome, described in patients of Arab origin. The syndrome consists of…”
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  16. 16

    The childhood component of the ICP model is appropriate for growth analysis of short Israeli children by Limony, Y, Leiberman, E, Hershkovitz, E

    Published in Hormone research (01-01-2004)
    “…To determine whether the childhood component of the infancy-childhood-puberty (ICP) model is appropriate for growth analysis of short Israeli children. From…”
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  17. 17

    The role of carbon capping and Ar pressure on SiC surface degradation during high temperature annealing by Kuebler, L., Hershkovitz, E., Kouzminov, D., Gossmann, H.-J., Charnvanichborikarn, S., Kim, H., Pearton, S.J., Jones, K.S.

    Published in Applied surface science (15-10-2024)
    “…[Display omitted] •SiC surface degradation morphology impacted by the use of a protective carbon cap.•Decreasing Ar pressure to 76 Torr results in severe…”
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  18. 18

    Decreased first phase insulin response in children with congenital insensitivity to pain with anhidrosis by Schreiber, Ruth, Levy, Jacov, Loewenthal, Neta, Pinsk, Vered, Hershkovitz, Eli

    “…Nerve growth factor (NGF) and its receptor tyrosine kinase A (TrkA) participate in endocrine pancreas morphogenesis and insulin secretion in vitro. Mutations…”
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  19. 19

    Micropituitarism and cortical dysplasia: an unknown association of two uncommon CNS disorders by Blinder, G, Corat-Simon, J, Hershkovitz, E

    Published in European radiology (01-01-2001)
    “…We describe a case of two known pathologies of the CNS in an unusual association: the concomitant presentation of the micropituitarism and cortical dysplasia…”
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  20. 20

    Carnitine‐acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient by Galron, D., Birk, O. S., Kazanovitz, A., Moses, S. W., Hershkovitz, E.

    Published in Journal of inherited metabolic disease (01-01-2004)
    “…Carnitine‐acylcarnitine translocase CACT deficiency is a very rare autosomal recessive disease. The neonatal phenotype of CACT deficiency is characterized by…”
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