Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Morad, Khayat"'
Autor:
Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg, Ronen Spiegel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. Biallelic pathogenic v
Externí odkaz:
https://doaj.org/article/6ac38c7fa9f14d61b64cd6989fb1fc29
Autor:
Zufit Hexner-Erlichman, Boris Fichtman, Yoav Zehavi, Morad Khayat, Haneen Jabaly-Habib, Lee S. Izhaki-Tavor, Moshe Dessau, Orly Elpeleg, Ronen Spiegel
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Cleft lip and/or cleft palate are a common group of birth defects that further classify into syndromic and non-syndromic forms. The syndromic forms are usually accompanied by additional physical or cognitive abnormalities. Isolated cleft palate syndr
Externí odkaz:
https://doaj.org/article/087cf9bd0d9e459e85e1bb186eac1b0c
Autor:
Tzipora C Falik‐Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter‐Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan‐Hersh, Eugene Vlodavsky, Liat Appl‐Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman‐Deutsch, Orly Avni
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 3, Pp 319-336 (2017)
Abstract Dilated cardiomyopathy (DCM) is a life‐threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4–30 months from four families, were diagnosed with DCM associated with mild skin, tee
Externí odkaz:
https://doaj.org/article/3bda5fe3b264454bbafad929188d4a0f
Autor:
Eran Cohen‐Barak, Hagit Toledano‐Alhadef, Nada Danial‐Farran, Ido Livneh, Banan Mwassi, Maysa Hriesh, Fadia Zagairy, Chen Gafni‐Amsalem, Husam Bashir, Morad Khayat, Nassim Warrour, Osnat Sher, Daphna Marom, Sergey Postovsky, Tal Dujovny, Michael Ziv, Stavit A. Shalev
Publikováno v:
Experimental Dermatology. 31:775-780
Neurofibromatosis 1 (NF1) is caused by germline mutations in the NF1 gene and manifests as proliferation of various tissues, including plexiform neurofibromas. The plexiform neurofibroma phenotype varies from indolent to locally aggressive, suggestin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d53c3f7858140003fb986693027ca7
https://doi.org/10.1111/exd.14514
https://doi.org/10.1111/exd.14514
Autor:
Tamar Koren, Fadia Zagairy, Yasmin Tatour, Hila Belhanes‐Peled, Morad Khayat, Judit Krausz, Nada Danial‐Farran, Michael Ziv, Eran Cohen‐Barak
Publikováno v:
Experimental dermatologyREFERENCES. 31(12)
Inherited epidermolysis bullosa (EB) simplex is a heterogeneous group of skin fragility disorders caused by mutations in genes encoding cell-cell or cell-matrix adhesion proteins. A recently identified, rare subtype of EB simplex is due to bi-allelic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cec560269b44bcfbcb196cf9f0a0dc
https://pubmed.ncbi.nlm.nih.gov/35960249
https://pubmed.ncbi.nlm.nih.gov/35960249
Autor:
Eran Cohen-Barak, Nada Danial-Farran, Helwa Hammad, Ola Aleme, Judith Krauz, Ester Gavish, Morad Khayat, Michael Ziv, Stavit Shalev
Publikováno v:
Acta Dermato-Venereologica, Vol 98, Iss 8, Pp 809-810 (2018)
Externí odkaz:
https://doaj.org/article/bb78a597b2704d39b1bc61dfcfec2228
Autor:
Eran, Cohen-Barak, Nada, Danial-Farran, Elana, Chervinsky, Ola, Alimi-Kasem, Fadia, Zagairy, Ido, Livneh, Bannan, Mawassi, Maysa, Hreish, Morad, Khayat, Alexander, Lossos, Vardiella, Meiner, Nina, Ehilevitch, Karin, Weiss, Stavit, Shalev
Publikováno v:
Journal of medical genetics.
Monogenic neurodegenerative diseases represent a heterogeneous group of disorders caused by mutations in genes involved in various cellular functions including autophagy, which mediates degradation of cytoplasmic contents by their transport into lyso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6171447e2629937ed8c34e6283dc2eb6
https://pubmed.ncbi.nlm.nih.gov/35710109
https://pubmed.ncbi.nlm.nih.gov/35710109
Autor:
Eran Cohen Barak, Morad Khayat, Nada Danial-Farran, Prathamesh T Nadar-Ponniah, Elena Chervinsky, Stavit A. Shalev, Shahar Taiber, Karen B. Avraham
Publikováno v:
Eur J Hum Genet
Since 1999, the COCH gene encoding cochlin, has been linked to the autosomal dominant non-syndromic hearing loss, DFNA9, with or without vestibular abnormalities. The hearing impairment associated with the variants affecting gene function has been at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e70ef2b0ed5b6132f13e65becd45842
https://doi.org/10.1038/s41431-020-00724-6
https://doi.org/10.1038/s41431-020-00724-6
Autor:
Tom Walsh, Silvia Casadei, Ofer Isakov, Mary Claire King, Matthew W. Kelley, Noa Ruhrman-Shahar, Eiríkur Steingrímsson, Maria Birkan, Mor Bordeynik-Cohen, Ronna Hertzano, Nadra Samra, Morad Khayat, Nada Danial-Farran, Naama Zvi, Zippora Brownstein, Moshe Frydman, Elon Pras, Ophir Handzel, Moien Kanaan, Fabio Tadeu Arrojo Martins, Michal Macarov, Noam Shomron, Asgeir O. Arnthorsson, Bella Davidov, Doaa Ali-Naffaa, Michal Sagi, Lara Kamal, Reuven Sharony, Lina Basel-Salmon, Ming K. Lee, Meirav Sokolov, Weise Chang, Ory Madgar, Michael Wolf, Dorit Lev, Karen B. Avraham, Hagit Baris-Feldman, Dror Gilony, Ryan J. Carlson, Hana Poran, Noga Lipschitz, Shahar Taiber, Suleyman Gulsuner, Amal Abu-Rayyan, Stavit Allon-Shalev, Chana Vinkler, Amihood Singer, Amir Peleg, Efrat Sofrin‐Drucker, Mordechai Shohat
Publikováno v:
Clin Genet
Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84df7512b560e32da80d89b20de85d7
https://doi.org/10.1111/cge.13817
https://doi.org/10.1111/cge.13817
Autor:
Amihood Singer, Morad Khayat, Rachel Michaelson-Cohen, Hagit Daum, Lena Sagi-Dain, Keren Tzadikevitch Geffen, Shay Ben-Shachar, Rivka Sukenik Halevy, Michal Feingold-Zadok, Idit Maya
Publikováno v:
Archives of Gynecology and Obstetrics. 303:85-92
To investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with fetal short long bones diagnosed by ultrasound. The study cohort was based on cases of chromosomal mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a3c0131402b0b5926ab940d26230949
https://doi.org/10.1007/s00404-020-05729-6
https://doi.org/10.1007/s00404-020-05729-6