Resultats de la cerca - Seidahmed, Mohammed Zain
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Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report per Seidahmed, Mohammed Zain, Salih, Mustafa A., Abdulbasit, Omer B., Samadi, Abdulmohsen, Al Hussien, Khalid, Miqdad, Abeer M., Biary, Maha S., Alazami, Anas M., Alorainy, Ibrahim A., Kabiraj, Mohammad M., Shaheen, Ranad, Alkuraya, Fowzan S.
Publicat 2016Text -
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Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice per Shaheen, Ranad, Anazi, Shams, Ben-Omran, Tawfeg, Seidahmed, Mohammed Zain, Caddle, L. Brianna, Palmer, Kristina, Ali, Rehab, Alshidi, Tarfa, Hagos, Samya, Goodwin, Leslie, Hashem, Mais, Wakil, Salma M., Abouelhoda, Mohamed, Colak, Dilek, Murray, Stephen A., Alkuraya, Fowzan S.
Publicat 2016Text -
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Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans per Shaheen, Ranad, Shamseldin, Hanan E., Loucks, Catrina M., Seidahmed, Mohammed Zain, Ansari, Shinu, Ibrahim Khalil, Mohamed, Al-Yacoub, Nadya, Davis, Erica E., Mola, Natalie A., Szymanska, Katarzyna, Herridge, Warren, Chudley, Albert E., Chodirker, Bernard N., Schwartzentruber, Jeremy, Majewski, Jacek, Katsanis, Nicholas, Poizat, Coralie, Johnson, Colin A., Parboosingh, Jillian, Boycott, Kym M., Innes, A. Micheil, Alkuraya, Fowzan S.
Publicat 2014Text -
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Characterizing the morbid genome of ciliopathies per Shaheen, Ranad, Szymanska, Katarzyna, Basu, Basudha, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Al Hashem, Amal, Derar, Nada, Alsharif, Hadeel, Aldahmesh, Mohammed A., Alazami, Anas M., Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous M., Sonbul, Rawda, Alkuraya, Hisham, Alnemer, Maha, Al Tala, Saeed, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed Zain, Meriki, Neama, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa A., Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare V., Parry, David A., Al Tassan, Nada, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Halees, Anason, Johnson, Colin A., Alkuraya, Fowzan S.
Publicat 2016Text -
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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy per Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.
Publicat 2016Text -
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Genomic and phenotypic delineation of congenital microcephaly per Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel, Basma, Patel, Nisha, Al-Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Hamad, Muddathir, Tabarki, Brahim, Alwadei, Ali H., Alhazzani, Fahad, Bashiri, Fahad A., Kentab, Amal, Şahintürk, Serdar, Sherr, Elliott, Fregeau, Brieana, Sogati, Samira, Alshahwan, Saad Ali M., Alkhalifi, Salwa, Alhumaidi, Zainab, Temtamy, Samia, Aglan, Mona, Otaify, Ghada, Girisha, Katta M., Tulbah, Maha, Seidahmed, Mohammed Zain, Salih, Mustafa A., Abouelhoda, Mohamed, Momin, Afaque A., Saffar, Muna Al, Partlow, Jennifer N., Arold, Stefan T., Faqeih, Eissa, Walsh, Christopher, Alkuraya, Fowzan S.
Publicat 2018Text -
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Autozygome and high throughput confirmation of disease genes candidacy per Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Khashab, Heba Y., Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota, Alkuraya, Fowzan S.
Publicat 2018Text -
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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism per Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel MA, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin AM, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S
Publicat 2017Text -
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes per Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Alhashem, Amal, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Khan, Sameena, Al-Kindy, Adila, Alnemer, Maha, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Tulbah, Maha, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Alsonbul, Abdullah, Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Subhani, Shazia, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.
Publicat 2017Text