Child With Congenital Generalized Lipodystrophy Type 4 for Electrophysiology Study and Catheter Ablation: Anesthetic Challenges von Al Aamri, Is'haq, Nagathan, Swaroopa Deepak, Al-Abri, Ismail Abdullah, Al Murshedi, Fathiya Mohammed, Maddali, Madan Mohan

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Reduction of Pulmonary Arterial Blood Flow as a Possible Mechanism for Bronchospasm During Cardiopulmonary Bypass von Krichevskiy, Lev A.

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Expanding the genetic heterogeneity of intellectual disability von Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes von Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, 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, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Al-Kindy, Adila, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, 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., 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, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.

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Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities von Alrakaf, Laila, Al‐Owain, Mohammed A., Busehail, Maryam, Alotaibi, Maha A., Monies, Dorota, Aldhalaan, Hesham M., Alhashem, Amal, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair A., Murshedi, Fathiya Al, Ani, Nadia Al, Al‐Maawali, Almundher, Ibrahim, Niema A., Abdulwahab, Firdous M., Alsagob, Maysoon, Hashem, Mais O., Ramadan, Wafaa, Abouelhoda, Mohamed, Meyer, Brian F., Kaya, Namik, Maddirevula, Sateesh, Alkuraya, Fowzan S.

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder von Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.

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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia von Tábara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund R S, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L

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Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort von Habeb, Abdelhadi M., Deeb, Asma, Johnson, Matthew, Abdullah, Mohammed, Abdulrasoul, Majidah, Al-Awneh, Hussain, Al-Maghamsi, Mohammed S.F., Al-Murshedi, Fathiya, Al-Saif, Ramlah, Al-Sinani, Siham, Ramadan, Dina, Tfayli, Hala, Flanagan, Sarah E., Ellard, Sian

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Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study von Al-Tamemi, Salem, Al-Zadjali, Shoaib, Bruwer, Zandre, Naseem, Shafiq-Ur-Rehman, Al-Siyabi, Nabila, ALRawahi, Mohammed, Alkharusi, Khalsa, Al-Thihli, Khalid, Al-Murshedi, Fathiya, AlSayegh, Abeer, Al-Maawali, Almundher, Dennison, David

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases von Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan

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Correction to: Expanding the genetic heterogeneity of intellectual disability von Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.

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6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects von Almannai, Mohammed, Felemban, Rana, Saleh, Mohammed A., Faqeih, Eissa A., Alasmari, Ali, AlHashem, Amal, Mohamed, Sarar, Sunbul, Rawda, Al-Murshedi, Fathiya, AlThihli, Khalid, Eyaid, Wafaa, Ali, Rehab, Ben-Omran, Tawfeg, Blau, Nenad, El-Hattab, Ayman W., Alfadhel, Majid

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6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects von Almannai, Mohammed, Felemban, Rana, Saleh, Mohammed A, Faqeih, Eissa A, Alasmari, Ali, AlHashem, Amal, Mohamed, Sarar, Sunbul, Rawda, Al-Murshedi, Fathiya, AlThihli, Khalid, Eyaid, Wafaa, Ali, Rehab, Ben-Omran, Tawfeg, Blau, Nenad, El-Hattab, Ayman W, Alfadhel, Majid

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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia von Tábara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund RS, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L

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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia (vol 145, pg 3095, 2022) von Tabara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund RS, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L

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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia von Tábara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund RS, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L

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