Zobrazeno 1 - 6
of 6
pro vyhledávání: '"B A Libdeh"'
Autor:
M A, Shahrour, O, Staretz-Chacham, D, Dayan, J, Stephen, A, Weech, N, Damseh, H, Pri Chen, S, Edvardson, S, Mazaheri, A, Saada, E, Hershkovitz, A, Shaag, M, Huizing, B, Abu-Libdeh, W A, Gahl, A, Azem, Y, Anikster, T, Vilboux, O, Elpeleg, M C, Malicdan
Publikováno v:
Clin Genet
Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser, in the TIMM50 gene, was reported in an abstract form, in three sibs who suffered from intractable ep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4e35ef0a59434712d2f8ba37fdc166c6
https://pubmed.ncbi.nlm.nih.gov/27573165
https://pubmed.ncbi.nlm.nih.gov/27573165
Publikováno v:
Scandinavian Journal of Rheumatology. 37:370-374
The aim of our study was to determine the prevalence of Mediterranean fever gene (MEFV) mutations among Palestinian patients with Behcet's disease (BD).We screened 42 BD patients from the West Bank and Jerusalem for most of the MEFV mutations known t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f3e0077b09ef2318c8e5f3a240865d7
https://doi.org/10.1080/03009740801998788
https://doi.org/10.1080/03009740801998788
Autor:
L. De Gioia, Ernst Christensen, Patricia I. Dickson, B Abu-Libdeh, Massimo Zeviani, R M Jack, M Owaidha, L Cindro-Heberle, Alberto Burlina, Elena Papaleo, Piero Rinaldo, Fabio Forlani, Eleonora Lamantea, Egill Briem, Valeria Tiranti, Rossana Mineri
Publikováno v:
Journal of Medical Genetics. 43:340-346
Mutations in ETHE1, a gene located at chromosome 19q13, have recently been identified in patients affected by ethylmalonic encephalopathy (EE). EE is a devastating infantile metabolic disorder, characterised by widespread lesions in the brain, hyperl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e49050c89154158d0d56672f97e7553
https://doi.org/10.1136/jmg.2005.036210
https://doi.org/10.1136/jmg.2005.036210
Autor:
Galina Pizov, B A Libdeh, Yakov Fellig, C Levy, Ilana Ariel, Avraham Hochberg, Maher A. Sughayer, Mark L. Tykocinski, N. de Groot, Tatiana Birman, D Podeh, Suhail Ayesh
Publikováno v:
Molecular Pathology. 53:320-323
Aims—To investigate the expression of the imprinted oncofetal H19 gene in human bladder carcinoma and to examine the possibility of using it as a tumour marker, similar to other oncofetal gene products. Methods—In situ hybridisation for H19 RNA w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb5ebf1532b10d534e7903c2d9836653
https://doi.org/10.1136/mp.53.6.320
https://doi.org/10.1136/mp.53.6.320
Publikováno v:
Annals of Tropical Paediatrics. 11:217-223
Fifty-four children from the Jerusalem area were studied prospectively following scorpion envenoming. Their ages ranged from 11 months to 10 years. Severe symptoms (convulsions, brain oedema, shock, respiratory distress and myocarditis) were encounte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2302cd3cd22ae10daeb0100dd9229956
https://doi.org/10.1080/02724936.1991.11747506
https://doi.org/10.1080/02724936.1991.11747506
Publikováno v:
Annals of Tropical Paediatrics. 11:155-161
Accidental kerosene ingestion continues to cause morbidity and mortality in third world countries, where kerosene is still used for cooking, heating and cleaning. In this prospective study, 78 children aged from 10 months to 5 years were managed at M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940c816cd42be42d38f67f167784555c
https://doi.org/10.1080/02724936.1991.11747495
https://doi.org/10.1080/02724936.1991.11747495