Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Omar Dabbagh"'
Publikováno v:
Case Reports in Medicine, Vol 2012 (2012)
Streptococcus pneumoniae is a common cause of bacterial meningitis, frequently resulting in severe neurological impairment. A seven-month-old child presenting with Streptococcus pneumoniae meningoencephalitis developed right basal ganglia and hypotha
Externí odkaz:
https://doaj.org/article/88fb4838acce408aa4d16bef09abe4c5
La Ley de Transparencia y la corrupción. Aspectos generales y percepciones de la ciudadanía española
Autor:
Víctor Omar Dabbagh Rollán
Publikováno v:
Aposta, Vol 68, Iss 68, Pp 83-106 (2016)
En los últimos años la transparencia se ha definido como un arma para combatir dos males característicos de las sociedades actuales: en primer lugar la corrupción y, en segundo, la desafección ciudadana hacia las instituciones públicas. De ahí
Externí odkaz:
https://doaj.org/article/634fa58aa3134e4085bda428fc04d1da
Autor:
Hindi Al-Hindi, Dilek Colak, Namik Kaya, Aljouhra AlHargan, Rahaf AlOtaibi, Wafa Alotaibi, Mariam Mahmoud Ali, Omar Dabbagh, Mohammad A. Al-Muhaizea, Ruba Sami, Hanan AlQudairy
Publikováno v:
Genes, Vol 12, Iss 1783, p 1783 (2021)
Genes
Genes
Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dyspha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aabf8f71bdd0b490c5b49684f29b1801
https://www.mdpi.com/2073-4425/12/11/1783
https://www.mdpi.com/2073-4425/12/11/1783
Autor:
Stephanie Efthymiou, Julien Buratti, Farah Bibi, Omar Dabbagh, Perrine Charles, Julia Hoefele, Kristi J. Jones, Enrico Mingardo, Jeshurun C Kalanithy, Matias Wagner, Hessa S. Alsaif, Konrad Platzer, Henry Houlden, Jaya Punetha, Sandra T. Cooper, Jennifer E. Posey, Tikam Chand Dakal, Leigh B. Waddell, Holger Thiele, Elise Valkanas, Davut Pehlivan, Zeynep Coban Akdemir, Beth Hudson, Shahzad Haider, Haktan Bağış Erdem, Jawid M Fatih, Fowzan S. Alkuraya, Solveig Heide, Andreas Ziegler, Michelle Demos, Heiko Reutter, Paul R Mark, Dana Marafi, Vincenzo Salpietro, Steffen Syrbe, Meriel McEntagart, Delphine Héron, Ilaria Guella, Jennifer Burton, James R. Lupski, Natalia Dominik, Daniel G. MacArthur, Tipu Sultan, Wendy K. Chung, Annalisa Vetro, Ender Karaca, George E. Hoganson, Rhonda E. Schnur, Bhanupriya Dhabhai, Sarah A. O'Shea, Tadahiro Mitani, Volkan Okur, Emily C. Oates, Tobias T. Lindenberg, Renzo Guerrini, Benjamin Odermatt, Gabriel C. Dworschak, Öznur Yilmaz, Jill V. Hunter, Shalini N. Jhangiani, Boris Keren, Korbinian M. Riedhammer, Caroline Nava, Stanley Fahn, Reza Maroofian, Roy N. Alcalay
Publikováno v:
Genetics in Medicine
PURPOSE: To investigate the effect of PLXNA1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and to functionally characterize the zebrafish homologs plxna1a and plxna1b during development. METHODS: We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e56db81ddbe17b5bcfd5001ed9ed19
https://pubmed.ncbi.nlm.nih.gov/34054129
https://pubmed.ncbi.nlm.nih.gov/34054129
Autor:
Víctor Omar Dabbagh Rollán
Publikováno v:
Aposta, Vol 79, Iss 79, Pp 164-180 (2018)
Muy frecuentemente a las personas mayores, una vez que llegan a la edad de jubilación, se las aparta de la actividad pública, de tal manera que quedan excluidas de la misma, y este hecho es más evidente en cuanto a participación política se refi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::d7f580c08a6d2c1bdabbff31e1a69176
http://apostadigital.com/revistav3/hemeroteca/dabbagh5.pdf
http://apostadigital.com/revistav3/hemeroteca/dabbagh5.pdf
Autor:
Víctor Omar Dabbagh Rollán
Publikováno v:
Aposta, Vol 75, Iss 75, Pp 196-218 (2017)
Las relaciones familiares son parte esencial de cualquier serie de televisión y cada vez requieren de más espacio en las mismas. Pero estas relaciones no han sido siempre las mismas. Frente a la familia clásica de una pareja heterosexual con dos o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::b263a0648ff2abab9acad3c57bd6d4f1
http://apostadigital.com/revistav3/hemeroteca/dabbagh4.pdf
http://apostadigital.com/revistav3/hemeroteca/dabbagh4.pdf
Autor:
Víctor Omar Dabbagh Rollán
Publikováno v:
Aposta, Vol 71, Iss 71, Pp 259-277 (2016)
La posible independencia de Cataluña ha sido y es un tema con un enorme atractivo para los científicos sociales y los medios de comunicación, pero en los últimos años ha recibido una especial atención por el impulso que los partidos independent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::100414beeabb266fd9e3e3fb38a9a567
http://apostadigital.com/revistav3/hemeroteca/dabbagh3.pdf
http://apostadigital.com/revistav3/hemeroteca/dabbagh3.pdf
Autor:
Seham Alameer, Mariam Almureikhi, Zuhair Rahbeeni, Mohamed Abouelhoda, Ameera Balobaid, Menasria Samira, Majid Alfadhel, Dalal K. Bubshait, Bashair Hamza Alabbasi, Mohammed Zain Seidahmed, Aziza Chedrawi, Dorota Monies, Hessa S. Alsaif, Hanan E. Shamseldin, Nisha Patel, Brahim Tabarki, Niema Ibrahim, Mohammad M. Al-Qattan, Suad Al Yamani, Hamad Al-Zaidan, Amal Y. Kentab, Iram Alluhaydan, Husam R. Kayyali, Maha Alotaibi, Abdulla Al Jasser, Maha Faden, Saeed Al Tala, Ewa Goljan, Firdous Abdulwahab, Brian F. Meyer, Suzan Alhomaidi, Ibrahim Almogarri, Mais Hashem, Wesam Kurdi, Heba Y. El Khashab, Sateesh Maddirevula, Amal Alhashem, Saad AlShahwan, Ranad Shaheen, Alya Qari, Mustafa A. Salih, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Fatema Alzahrani, Mohammed Al-Owain, Mohammad A. Al Muhaizea, Hana Akleh, Omar Dabbagh
Publikováno v:
Genetics in Medicine
Purpose Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb3524b768d420e369794467cab5605e
https://pubmed.ncbi.nlm.nih.gov/30237576
https://pubmed.ncbi.nlm.nih.gov/30237576
Autor:
Hesham Aldhalaan, Hana Akleh, Saeed Bohlega, Imaduddin Kanaan, Fathiya Al-Murshedi, Sarar Mohamed, Mohammed AlQuaiz, Mohammad Shagrani, Fahad A. Bashiri, Fowzan S. Alkuraya, Banan Al-Younes, Saif Alshahrani, Maha Alotaibi, Saeed Hassan, Amal Alqassmi, Farrukh Sheikh, Fahad I. Alsohaibani, Edward Cupler, Saad AlShahwan, Majid Alfadhel, Dalal K. Bubshait, Aziza Chedrawi, Hamad Al-Mojalli, Adila Al-Kindy, Amal Alhashem, Mohammad A. Al-Muhaizea, Shamshad Gulab, Khalid Alsaleem, Maisoon Almugbel, Dorota Monies, Faisal Abaalkhail, Ahmed S Alenizi, Suad Alyamani, Abeer Al-Saegh, Ayaz Shah, Dyala Jaroudi, Khalid S. Alqadi, Maha Alnemer, Tariq Faquih, Renad Albar, Khalid Al-Thihli, Heba Y. El Khashab, Sulaiman M. Al-Mayouf, Moayad El-Haj, Brian F. Meyer, Hasan Al-Dhekri, Ibraheem F. Abosoudah, Zuhair Rahbeeni, A. Al-Ghonaium, Alya Qari, Asma Akilan, Mohammed Al-Owain, Nabil Moghrabi, Hamoud Al-Mousa, Amira Oshi, Taghreed Shuaib, Maha Faden, M. Al-Sebayel, Maha Tulbah, Ali Al-Mehaidib, Shazia Subhani, Raashda A Sulaiman, Wesam Kurdi, Hisham Alkuraya, Abdulaziz Al-Saman, Abdullah Alshanbary, Saeed Al Tala, Mustafa A. Salih, Wajeeh Aldekhail, Mohamed El-Kalioby, Zeeshan Shah, Mohammed Zain Seidahmed, Zuhair N. Al-Hassnan, Yasser Sabr, Tahani Alqasim, Moeenaldeen Al-Sayed, Abdullah Alsonbul, Hussien Elsiesy, Rand Arnaout, Saad Alsaadoun, Muddathir H. Hamad, Brahim Tabarki, Sami Al-Hajjar, Randa Bassiouni, Maged H. Hussein, Dieter C. Broering, Soher Balkhy, Abdullah Tamim, Mohamed Abouelhoda, Talal Algoufi, Nawal Makhseed, Ewa Goljan, Turki M. Alkharfy, Talal A. Basha, Bandar K. Al Saud, Eissa Faqeih, Hamad Al-Zaidan, Laszlo Szonyi, Husam R. Kayyali, Habiba Sultana, Suzan Alhomadi, Hadeel Elbardisy, Omar Dabbagh, Wafa Eyaid, Fuad Al Mutairi, Sameena Khan, Mohamed Ibrahim Khalil
Publikováno v:
Human Genetics
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78d7400f1ed91704112fd5669cc5c9c8
https://pubmed.ncbi.nlm.nih.gov/28600779
https://pubmed.ncbi.nlm.nih.gov/28600779
Autor:
Sonia, Hasan, Ameera, Balobaid, Alessandro, Grottesi, Omar, Dabbagh, Marta, Cenciarini, Rifaat, Rawashdeh, Afaf, Al-Sagheir, Cecilia, Bove, Lara, Macchioni, Mauro, Pessia, Mohammed, Al-Owain, Maria Cristina, D'Adamo
Publikováno v:
Journal of neurophysiology. 118(4)
We present and characterize a novel mutation in KCNJ10. Unlike previously reported EAST/SeSAME patients, our patient was heterozygous, and contrary to previous studies, mimicking the heterozygous state by coexpression resulted in loss of channel func
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::92943f45fa237103d7ef1ed3b8a0a5c2
https://pubmed.ncbi.nlm.nih.gov/28747464
https://pubmed.ncbi.nlm.nih.gov/28747464