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المؤلفون: Chen Katz, Junko Oshima, Günter Speit, Thomas Ramezani, Carlos Trujillo, Katrin Rading, Davor Lessel, Christian Kubisch, Peter Nürnberg, Yan Zhu, Petra Schütz, Gudrun Nürnberg, Fuki M. Hisama, Josef Högel, Ivana Lessel, David R. Tong, Carol Prives, George M. Martin, Bhaskar Saha, Mohammad Khalid Alwasiyah, Ingrid Goebel, Matthias Hammerschmidt, Danyi Wu, Holger Thiele
المصدر: Journal of Clinical Investigation. 127:3598-3608
مصطلحات موضوعية: 0301 basic medicine, Premature aging, Mutant, Apoptosis, medicine.disease_cause, 03 medical and health sciences, Germline mutation, Cell Line, Tumor, medicine, Animals, Humans, Germ-Line Mutation, Zebrafish, Werner syndrome, Progeria, Mutation, biology, Aging, Premature, Proto-Oncogene Proteins c-mdm2, General Medicine, Zebrafish Proteins, medicine.disease, Ubiquitin ligase, Cell biology, Disease Models, Animal, 030104 developmental biology, biology.protein, Mdm2, Tumor Suppressor Protein p53, Research Article
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المؤلفون: Adeel G. Chaudhary, Muhammad Imran Naseer, Carlos Trujillo, Mohammad Khalid Alwasiyah, Muhammad Abu-Elmagd, Mohammad Alam Jafri, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Rayan Abdullah Bajammal
المصدر: Genesgenomics. 40(11)
مصطلحات موضوعية: 0301 basic medicine, Developmental Disabilities, Mutation, Missense, Saudi Arabia, Nerve Tissue Proteins, Biology, Biochemistry, 03 medical and health sciences, symbols.namesake, Epilepsy, Exon, 0302 clinical medicine, Genetics, medicine, Missense mutation, Humans, Child, Molecular Biology, Exome sequencing, Sanger sequencing, Genetic heterogeneity, Homozygote, Macrocephaly, Electroencephalography, medicine.disease, Megalencephaly, 030104 developmental biology, Child, Preschool, Mutation (genetic algorithm), symbols, Female, medicine.symptom, 030217 neurology & neurosurgery
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المصدر: Clinical Case Reports
مصطلحات موضوعية: X-linked, Genetics, Case Reports, General Medicine, Biology, Phenotype, X-inactivation, MED12, Mutation (genetic algorithm), Intellectual deficiency, X-Inactivation, Missense mutation, mutation, Large group, X-exome sequencing, Novel mutation, Gene
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المؤلفون: Jerry W. Shay, Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa, Maryam Goudarzi, Albert J. Fornace, Saleh Baeesa, Deema Hussain, Mohammed Bangash, Fahad Alghamdi, Hans-Juergen Schulten, Angel Carracedo, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder S. Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri, Heba Alkhatabi, Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp, Adel M. Abuzenadah, Jim Vaught, Bruce Budowle, Mourad Assidi, Abdelbaset Buhmeida, Leena Merdad, Sudhir Kumar, Sayaka Miura, Karen Gomez, Mahmood Rasool, Ahmed Rebai, Sajjad Karim, Hend F. Nour Eldin, Heba Abusamra, Elham M. Alhathli, Nada Salem, Mohammed H. Al-Qahtani, Hossam Faheem, Ashok Agarwa, Eberhard Nieschlag, Joachim Wistuba, Oliver S. Damm, Mohd A. Beg, Taha A. Abdel-Meguid, Hisham A. Mosli, Osama S. Bajouh, Serdar Coskun, Muhammad Abu-Elmagd, Ashraf Dallol, Sahar Hakamy, Wejdan Al-Qahtani, Asia Al-Harbi, Shireen Hussain, Burak Ozkosem, Rick DuBois, Safia S. Messaoudi, Maryam T. Dandana, Touhami Mahjoub, Wassim Y. Almawi, S. Abdalla, M. Nabil Al-Aama, Asmaa Elzawahry, Tsuyoshi Takahashi, Sachiyo Mimaki, Eisaku Furukawa, Rie Nakatsuka, Isao Kurosaka, Takahiko Nishigaki, Hiromi Nakamura, Satoshi Serada, Tetsuji Naka, Seiichi Hirota, Tatsuhiro Shibata, Katsuya Tsuchihara, Toshirou Nishida, Mamoru Kato, Sajid Mehmood, Naeem Mahmood Ashraf, Awais Asif, Muhammad Bilal, Malik Siddique Mehmood, Aadil Hussain, Qazi Mohammad Sajid Jamal, Mughees Uddin Siddiqui, Mohammad A. Alzohairy, Mohammad A. Al Karaawi, Taoufik Nedjadi, Heba Al-Khattabi, Adel Al-Ammari, Ahmed Al-Sayyad, Hédia Zitouni, Nozha Raguema, Marwa Ben Ali, Wided Malah, Raja Lfalah, Wassim Almawi, Mohammed Elanbari, Andrey Ptitsyn, Sana Mahjoub, Rabeb El Ghali, Bechir Achour, Nidhal Ben Amor, Brahim N’siri, Hamid Morjani, Esam Azhar, Vera Chayeb, Maryam Dendena, Hedia Zitouni, Khedija Zouari-Limayem, Bassem Refaat, Ahmed M. Ashshi, Sarah A. Batwa, Hazem Ramadan, Amal Awad, Ahmed Ateya, Adel Galal Ahmed El-Shemi, Ahmad Ashshi, Mohammed Basalamah, Youjin Na, Chae-Ok Yun, Adel Galal El-Shemi, Osama Kensara, Amr Abdelfattah, Batol Imran Dheeb, Mohammed M. F. Al-Halbosiy, Rghad Kadhim Al lihabi, Basim Mohammed Khashman, Djouhri Laiche, Chaudhary Adeel, Nedjadi Taoufik, Hani Al-Afghani, Maria Łastowska, Haya H. Al-Balool, Harsh Sheth, Emma Mercer, Jonathan M. Coxhead, Chris P. F. Redfern, Heiko Peters, Alastair D. Burt, Mauro Santibanez-Koref, Chris M. Bacon, Louis Chesler, Alistair G. Rust, David J. Adams, Daniel Williamson, Steven C. Clifford, Michael S. Jackson, Mala Singh, Mohmmad Shoab Mansuri, Shahnawaz D. Jadeja, Hima Patel, Yogesh S. Marfatia, Rasheedunnisa Begum, Amal M. Mohamed, Alaa K. Kamel, Nivin A. Helmy, Sayda A. Hammad, Hesham F. Kayed, Marwa I. Shehab, Assad El Gerzawy, Maha M. Ead, Ola M. Ead, Mona Mekkawy, Innas Mazen, Mona El-Ruby, S. M. A. Shahid, J. M. Arif, Mohtashim Lohani, Moumni Imen, Chaouch Leila, Ouragini Houyem, Douzi Kais, Chaouachi Dorra Mellouli Fethi, Bejaoui Mohamed, Abbes Salem, Areeg Faggad, Amanuel T. Gebreslasie, Hani Y. Zaki, Badreldin E. Abdalla, Maha S. AlShammari, Rhaya Al-Ali, Nader Al-Balawi, Mansour Al-Enazi, Ali Al-Muraikhi, Fadi Busaleh, Ali Al-Sahwan, Francis Borgio, Abdulazeez Sayyed, Amein Al-Ali, Sadananda Acharya, Maha S. Zaki, Hala T. El-Bassyouni, Mohammed F. Elshal, Kaleemuddin M., Alia M. Aldahlawi, Omar Saadah, J. Philip McCoy, Adel E. El-Tarras, Nabil S. Awad, Abdulla A. Alharthi, Mohamed M. M. Ibrahim, Haneen S. Alsehli, Abdullah M. Gari, Mohammed M. Abbas, Roaa A. Kadam, Mazen M. Gari, Mohmmed H. Alkaff, Mamdooh A. Gari, Hend F. Nour eldin, Fatima A. Moradi, Omran M. Rashidi, Zuhier A. Awan, Ibrahim Hamza Kaya, Olfat Al-Harazi, Dilek Colak, Nabila A. Alkousi, Takis Athanasopoulos, Afnan O. Bahmaid, Etimad A. Alhwait, Mohammed H. Alkaf, Roaa Kadam, Gauthaman Kalamegam, Elham Alhathli, Salma N. Alsayed, Fawziah H. Aljohani, Samaher M. Habeeb, Rawan A. Almashali, Sulman Basit, Samia M. Ahmed, Rakesh Sharma, Ashok Agarwal, Damayanthi Durairajanayagam, Luna Samanta, Edmund S. Sabanegh, Zhihong Cui, Alaa A. Alboogmi, Nuha A. Alansari, Maha M. Al-Quaiti, Fai T. Ashgan, Afnan Bandah, Hasan S. Jamal, Abdullraheem Rozi, Zeenat Mirza, Ahmad J. Al Sayyad, Hasan M. A. Farsi, Jaudah A. Al-Maghrabi, Reem Alotibi, Alaa Al-Ahmadi, Alaa A. Albogmi, Rasha A. Ebiya, Samia M. Darwish, Metwally M. Montaser, Vladimir B. Bajic, Wafaey Gomaa, Mehenaz Hanbazazh, Mahmoud Al-Ahwal, Saher Hakamy, Ghali Baba, Abdullah Al-Harbi, Ghalia Baba, Hend Nour Eldin, Aisha A. Alyamani, Rawan Gadi, Saadiah M. Alfakeeh, Rubi Ghazala, Shilu Mathew, M. Haroon Hamed, Ishtiaq Qadri, Lobna Mira, Manal Shaabad, Mikhlid H. Almutairi, Angie Ambers, Jennifer Churchill, Jonathan King, Monika Stoljarova, Harrell Gill-King, Muhammad Al-Qatani, Farid Ahmed, Taha Abo Almagd, Muhammad Al-Qahtani, Abdelbaset Buhmaida, Rukhsana Satar, Waseem Ahmad, Nazia Nazam, Mohamad I. Lone, Muhammad I. Naseer, Mohammad S. Jamal, Syed K. Zaidi, Peter N. Pushparaj, Mohammad A. Jafri, Shakeel A. Ansari, Mohammed H. Alqahtani, Hanan Bashier, Abrar Al Qahtani, Amal M. Nour, Adel M. Abu Zenadah, Muhammed Al Qahtani, Muhammad Faheem, Shiny Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani, Hani A. Alhadrami, Ibtessam R. Hussein, Rima S. Bader, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans Schulten, Mohamed Nabil Alama, Mohammad H. Al Qahtani, Mohammad I. Lone, Nazia Nizam, Muhammed H. Al-Qahtani, Eradah Alshihri, Lina Alharbi, Peter Pushparaj Natesan, Fazal Khan, Khalid Hussain Wali Sait, Nisreen Anfinan, Lobna S. Mira, Mohammed H. AlQahtani, Sameera Sogaty, Randa I. Bassiouni, Abdulrahman M. S. Sibiani, Mohiuddin K. Warsi, null Rubi, Kundan Kumar, Ahmad A. T. Naqvi, Faizan Ahmad, Md I. Hassan, Ashraf Ali, Jummanah Jarullah, Abdelbasit Buhmeida, Shahida Khan, Ghufrana Abdussami, Maryam Mahfooz, Mohammad A. Kamal, Ghazi A. Damanhouri, Bushra Jarullah, Mohammad S. S. Jarullah, Osama Bajouh, Abdulah E. A. Mathkoor, Hashim M. A. Alsalmi, Anas M. M. Oun, Ghazi A. Damanhauri, Adeel G. Chudhary, Yousif A. Abutalib, Daniele Merico, Susan Walker, Christian R. Marshall, Mehdi Zarrei, Stephen W. Scherer, Fai Talal Ashgan, Syed Kashif Zaidi, Mohammed M. Jan, Maryam Al-Zahrani, Sahira Lary, Emmanuel Dermitzakis, Abeer A. Al-refai, Mona Saleh, Rehab I. Yassien, Mahmmoud Kamel, Rabab M. Habeb, Najlaa Filimban, Nadia Ghannam, Adel Mohammed Abuzenadah, Fehmida Bibi, Sana Akhtar, Esam I. Azhar, Muhammad Yasir, Muhammad I. Nasser, Asif A. Jiman-Fatani, Ali Sawan, Ruaa A. Lahzah, Asho Ali, Syed A. Hassan, Seyed E. Hasnain, Iftikhar A. Tayubi, Hamza A. Abujabal, Alaa O. Magrabi, Adel Abuzenada, Taha Abduallah Kumosani, Elie Barbour, Manal Shabaad, Adnan Merdad, Kalamegam Gauthaman, Mamdooh Gari, Hani M. A. Aljahdali, Reham Al Nono, Haneen Alsehli, Mohammed Abbas, Mohammed Sarwar Jamal, Shakeel Ansari, Mansour A. Alghamdi, Magdy Shamy, Max Costa, Mamdouh I. Khoder, Najla Kharrat, Sabrine Belmabrouk, Rania Abdelhedi, Riadh Benmarzoug, Mohammed H. Al Qahtani, Ghazi Dhamanhouri, Abdelwahab Noorwali, Mohammad Khalid Alwasiyah, Afnan Bahamaid, Saadiah Alfakeeh, Aisha Alyamani, Ali Mobasheri, Mohammad Sarwar Jamal, Raziuddin Khan, Kanchan Bhatia, Saif Ahmad, Iftikhar AslamTayubi, Manish Tripathi, Syed Asif Hassan, Rahul Shrivastava, Syed Hassan, Hamza A. S. Abujabal, Ishani Shah, Ishfaq A. Sheikh, Ejaz Ahmad, Mohd Rehan, Samera F. AlBasri, Rola F. Turki, Sahar A. F. Hammoudah, Khalid M. AlHarbi, Lama M. El-Attar, Ahmed M. Z. Darwish, Sara M. Ibrahim, Hani Choudhry, Jalaludden Awlia, Imran khan, Sameera Al-basri, Taha Kumosani, Heba M. EL Sayed, Eman A. Hafez, Aisha Hassan Elaimi, Randa Ibrahim Bassiouni, Richard F. Wintle, Vikram Gopalakrishna Pillai, Sujata Sharma, Punit Kaur, Alagiri Srinivasan, Tej P. Singh, Fatima Al-Adwani, Deema Hussein, Mona Al-Sharif, Fahad Al-Ghamdi, Saleh S. Baeesa, Taha Abdullah Kumosani, Faisal A. Al-Allaf, Zainularifeen Abduljaleel, Abdullah Alashwal, Mohiuddin M. Taher, Abdellatif Bouazzaoui, Halah Abalkhail, Faisal A. Ba-Hammam, Mohammad Athar, Khalid HussainWali Sait, Naira Ben Mami, Yosr Z. Haffani, Mouna Medhioub, Lamine Hamzaoui, Ameur Cherif, Msadok Azouz, Mohammed Imran Nasser, Shereen A. Turkistany, Lina M. Al-harbi, Jamal Sabir, Basmah Al-Madoudi, Bayan Al-Aslani, Khulud Al-Harbi, Rwan Al-Jahdali, Hanadi Qudaih, Emad Al Hamzy, Asad M. Ilyas, Youssri Ahmed, Mohammed Alqahtani, Alaa Alamandi, Ohoud Subhi, Nadia Bagatian, Adel Al-Johari, Osman Abdel Al-Hamour, Hosam Al-Aradati, Abdulmonem Al-Mutawa, Faisal Al-Mashat, Mohammad Al-Qahtani, Muhammad W. shah, Esam I Azhar, Saad Al-Masoodi, Emna Khamla, Chaima Jlassi, Ahmed S. Masmoudi, Lassaad Belbahri, Shadi Al-Khayyat, Roba Attas, Atlal Abu-Sanad, Mohammed Abuzinadah, Habib Bouazzi, Carlos Trujillo, Maha Alotaibi, Rami Nassir, Essam H. Jiffri, Ghulam M. Ashraf, Mohammad A. Aziz, Rizwan Ali, Nusaibah Samman, Sathish Periyasamy, Mohammed Aldress, Majed Al Otaibi, Zeyad Al Yousef, Mohamed Boudjelal, Ibrahim AlAbdulkarim, Mohd Suhail, Abid Qureshi, Adil Jamal, Mahmoud Z. El-Readi, Safaa Y. Eid, Michael Wink, Ahmed M. Isa, Lulu Alnuaim, Johara Almutawa, Basim Abu-Rafae, Saleh Alasiri, Saleh Binsaleh, Mohamed H. Alqahtani
المصدر: BMC Genomics. 17
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, Differentially expressed genes, Gene expression, Genetics, Feature selection, Computational biology, Biology, Cluster analysis, Classifier (UML), Biotechnology
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المؤلفون: Mohammad Khalid Alwasiyah, Ali Mobasheri, Francesca M. Trovato, Mohammed H Alqahtani, Annelie Weinberg, Giuseppe Musumeci, Paola Castrogiovanni
المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 16, Iss 9, Pp 20560-20575 (2015)مصطلحات موضوعية: Programmed cell death, chondrocyte death, autophagy, Review, Osteoarthritis, Catalysis, Chondrocyte, lcsh:Chemistry, Inorganic Chemistry, Chondrocytes, osteoarthritis (OA), apoptosis, biomarker, medicine, Animals, Humans, Physical and Theoretical Chemistry, lcsh:QH301-705.5, Molecular Biology, Spectroscopy, business.industry, Cartilage, Organic Chemistry, Autophagy, General Medicine, medicine.disease, Computer Science Applications, medicine.anatomical_structure, lcsh:Biology (General), lcsh:QD1-999, Apoptosis, Immunology, Cancer research, Biomarker (medicine), Signal transduction, business, Biomarkers, Signal Transduction
وصف الملف: text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3d75302d60cbe43fef3838ed1ae2049
https://surrey.eprints-hosting.org/809544/ -
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المؤلفون: Soufiane Bouaziz, Habib Bouazzi, Arnold Munnich, Carlos Trujillo, Mohammad Khalid Alwasiyah
المصدر: Journal of Clinical Case Reports.
مصطلحات موضوعية: Genetics, Sanger sequencing, business.industry, X-linked intellectual disability, medicine.disease, Bioinformatics, X-inactivation, symbols.namesake, Genotype, Mutation (genetic algorithm), Intellectual disability, symbols, Medicine, Missense mutation, business, X chromosome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4f239565efa2b4b2941e1cae32dc8e35
https://doi.org/10.4172/2165-7920.1000656 -
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المصدر: Indian Journal of Medical Research, Vol 143, Iss 1, Pp 43-48 (2016)
The Indian Journal of Medical Researchمصطلحات موضوعية: Male, 0301 basic medicine, X-linked Nuclear Protein, Alpha thalassaemia - ATRX - exome sequencing - intellectual deficiency - novel mutation - X inactivation, Mutation, Missense, lcsh:Medicine, intellectual deficiency, Alpha-thalassemia, Biology, Bioinformatics, General Biochemistry, Genetics and Molecular Biology, X-inactivation, 03 medical and health sciences, symbols.namesake, alpha-Thalassemia, X Chromosome Inactivation, Intellectual Disability, medicine, Humans, Missense mutation, Exome, ATRX, X chromosome, Genetics, Sanger sequencing, Alpha thalassaemia, lcsh:R, DNA Helicases, High-Throughput Nucleotide Sequencing, Nuclear Proteins, General Medicine, medicine.disease, Pedigree, X inactivation, Phenotype, 030104 developmental biology, Mutation (genetic algorithm), Mental Retardation, X-Linked, symbols, Original Article, novel mutation, exome sequencing