Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia von Abukhaled, Musaad, Alrakaf, Laila, Aldhalaan, Hesham, Al Yamani, Suad

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Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII von Kaya, Namik, Aldhalaan, Hesham, Al-Younes, Banan, Colak, Dilek, Shuaib, Taghreed, Al-Mohaileb, Fahad, Al-Sugair, Abdulaziz, Nester, Michael, Al-Yamani, Suad, Al-Bakheet, Albandary, Al-Hashmi, Nadia, Al-Sayed, Moeen, Meyer, Brian, Jungbluth, Heinz, Al-Owain, Mohammed

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Autozygome and high throughput confirmation of disease genes candidacy von 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.

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Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis von Wakil, Salma M, Murad, Hatem N, Baz, Batoul M, Hagos, Samiya T, Al-Amr, Rana A, Al-Yamani, Suad A, Al-Wadaee, Salem M, Meyer, Brian F, Bohlega, Saeed A

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Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep in Saudi Arabia: Electroclinical, etiologic, genetic, and outcome multicenter study von Alsini, Hanin, Alghamdi, Abdulaziz, Alshafi, Shatha, Hundallah, Khalid, Almehmadi, Sameer, Alsowat, Daad, Al-Yamani, Suad, Almuzaini, Hanin, Alwadie, Ali, Al-Otaibi, Ali, Jad, Lamyaa, Almadhi, Asma, Bashiri, Fahad, Kentab, Amal, Hamad, Muddathir H, Baarmah, Duaa, Alrifaie, Mohammed, Almuqbel, Mohammed, Baradie, Raidah Al, Mir, Ali, Jan, Mohammed, Muthaffar, Osama, Aljabri, Mohammed, Ali, Elsayed, Saeed, Mohammed, Matar, Abeer, Tabarki, Brahim

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Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia von Abukhaled, Musaad, Alrakaf, Laila, Aldhalaan, Hesham, Al Yamani, Suad

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Phenotypical Spectrum of Cerebellar Ataxic Associated With a Novel Mutation the CA8 Gene, Encoding Carbonic Anhydrase (CA) VIII von KAYA, Namik, ALDHALAAN, Hesham, AL-HASHMI, Nadia, AL-SAYED, Moeen, MEYER, Brian, JUNGBLUTH, Heinz, AL-OWAIN, Mohammed, AL-YOUNES, Banan, COLAK, Dilek, SHUAIB, Taghreed, AL-MOHAILEB, Fahad, AL-SUGAIR, Abdulaziz, NESTER, Michael, AL-YAMANI, Suad, AL-BAKHEET, Albandary

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population von Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Jaafar, Amal, Albar, Ranad, Akilan, Asma, Tayeb, Hamsa, Tahir, Asma, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Alsaleem, Khalid, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alshareef, Turki, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Alkuraya, Fowzan S.

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population von Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Aldhalaan, Hisham, Kurdi, Wesam, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, Jaafar, Amal, Albar, Ranad, Tayeb, Hamsa, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Khaled, Musad Abu, Almugbel, Maisoon, Badawi, Manal, Sulaiman, Raashida, Algoufi, Talal, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Nahrir, Shapar, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Alsaud, Bandar, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alsabban, Essam, Alshareef, Turki, Awartani, Khalid, Banjar, Hanaa, Alsahan, Nada, Aldekhail, Wajeeh, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Altalhi, Abdulhadi, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, AlBalwi, Mohammed, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.

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