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pro vyhledávání: '"B Z, Garty"'
Akademický článek
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Autor:
M, Weisz Hubshman, L, Basel-Vanagaite, A, Krauss, O, Konen, Y, Levy, B Z, Garty, P, Smirin-Yosef, I, Maya, I, Lagovsky, E, Taub, D, Marom, D, Gaash, K, Shichrur, S, Avigad, L, Hayman-Manzur, A, Villa, C, Sobacchi, M, Shohat, I, Yaniv, J, Stein
Publikováno v:
Clinical genetics. 91(6)
Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7da016941a01d950f5fb3871a54c7e57
https://pubmed.ncbi.nlm.nih.gov/27808398
https://pubmed.ncbi.nlm.nih.gov/27808398
Publikováno v:
Journal of Medical Genetics. 31:853-857
Neurofibromatosis type 1 (NF1) (von Recklinghausen's disease) is one of the most common human autosomal dominant disorders. In a survey of 374440 17 year old Jewish recruits for military service, 390 cases of NF1 were discovered, with a prevalence of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d8f317cc989a5fa9638a41ccedbe494
https://doi.org/10.1136/jmg.31.11.853
https://doi.org/10.1136/jmg.31.11.853
Autor:
Lester Baker, Steven D. Douglas, Charles A. Stanley, B. Z. Garty, Laurie E. Kilpatrick, Helen M. Korchak
Publikováno v:
European Journal of Pediatrics. 152:39-43
Patients with glycogen storage disease (GSD) type 1b, in contrast to patients with GSD 1a, are susceptible to recurrent bacterial infections suggesting defective phagocytic function. We have demonstrated a selective defect in respiratory burst activi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9d17e992a7df96511717c73036d3c83
https://doi.org/10.1007/bf02072086
https://doi.org/10.1007/bf02072086
Autor:
V, Hoffer, O, Scheuerman, N, Marcus, Y, Levy, N, Segal, I, Lagovsky, Y, Monselise, B Z, Garty
Publikováno v:
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology. 22(2)
Little is known about the courses, causes, and clinical features of anaphylaxis in children outside the USA and Europe. Our objective was to evaluate the events of anaphylaxis in children admitted to the Schneider Children's Medical Center of Israel,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66c400b8cf1f1302f48f0cb310415fab
https://pubmed.ncbi.nlm.nih.gov/20536784
https://pubmed.ncbi.nlm.nih.gov/20536784
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Menachem Sadeh, Tally Lerman-Sagie, Andreea Nissenkorn, L. Blieden, Dorit Lev, Varda Barash, Esther Leshinsky-Silver, B. Z. Garty, A. Zeharia
Publikováno v:
Pediatric cardiology. 25(5)
To determine the clinical manifestations and interfamilial variability of patients diagnosed with a mitochondrial cardiomyopathy, we reviewed the charts of 14 patients with cardiomyopathy out of 59 patients with mitochondrial disorders who attended t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0f215da068c441df4da0cad3e9dd8a
https://pubmed.ncbi.nlm.nih.gov/15185043
https://pubmed.ncbi.nlm.nih.gov/15185043
Publikováno v:
Clinical Diagnostic Laboratory Immunology. 1:667-669
The concentrations in cord blood of total immunoglobulin G (IgG) and the four subclasses of IgG were measured in 34 fetuses at a mean gestational age of 25 weeks (range, 18 to 35 weeks). The blood samples were obtained by percutaneous umbilical blood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09ec1861e1c5e8eb600e6bb05d5fa337
https://doi.org/10.1128/cdli.1.6.667-669.1994
https://doi.org/10.1128/cdli.1.6.667-669.1994
Publikováno v:
Annales de medecine interne. 151(7)
The last several decades have witnessed major advances in the understanding and management of constrictive pericarditis. The aim of the present study was to compare the diagnosis, treatment and outcome of constrictive pericarditis of 40 years ago to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6647497bc1facb3c00fd8225b218f40f
https://pubmed.ncbi.nlm.nih.gov/11139651
https://pubmed.ncbi.nlm.nih.gov/11139651
Publikováno v:
Harefuah. 138(5)
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a group of autosomal dominant diseases with variable penetration, characterized by vascular malformations. Recently hereditary hemorrhagic telangiectasia has been found to be a phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::444129f8794404be198813570998fa10
https://pubmed.ncbi.nlm.nih.gov/10883134
https://pubmed.ncbi.nlm.nih.gov/10883134