Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

Monies, Dorota ; Vågbø, Cathrine Broberg ; Al-Owain, Mohammad ; Alhomaidi, Suzan ; Alkuraya, Fowzan S.

United States: Elsevier Inc

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A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Monies, Dorota ; Alhindi, Hindi N ; Almuhaizea, Mohamed A ; Abouelhoda, Mohamed ; Alazami, Anas M ; Goljan, Ewa ; Alyounes, Banan ; Jaroudi, Dyala ; AlIssa, Abdulelah ; Alabdulrahman, Khalid ; Subhani, Shazia ; El-Kalioby, Mohamed ; Faquih, Tariq ; Wakil, Salma M ; Altassan, Nada A ; Meyer, Brian F ; Bohlega, Saeed

England: BioMed Central

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

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.

Berlin/Heidelberg: Springer Berlin Heidelberg

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Homogeneity and distinctiveness of Polish paternal lineages revealed by y chromosome microsatellite haplotype analysis

PLOSKI, Rafal ; WOZNIAK, Marcin ; LESSIG, Rüdiger ; JOBLING, Mark A ; ROEWER, Lutz ; KAYSER, Manfred ; PAWLOWSKI, Ryszard ; MONIES, Dorota Marta ; BRANICKI, Wojciech ; KUPIEC, Tomasz ; KLOOSTERMAN, Ate ; DOBOSZ, Tadeusz ; BOSCH, Elena ; NOWAK, Magdalena

Heidelberg: Springer

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Expanding the genetic heterogeneity of intellectual disability

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.

Berlin/Heidelberg: Springer Berlin Heidelberg

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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Monies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, Saeed

England: Elsevier B.V

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Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

Maddirevula, Sateesh ; Shamseldin, Hanan E ; Sirr, Amy ; AlAbdi, Lama ; Lo, Russell S ; Ewida, Nour ; Al-Qahtani, Mashael ; Hashem, Mais ; Abdulwahab, Firdous ; Aboyousef, Omar ; Kaya, Namik ; Monies, Dorota ; Salem, May H ; Al Harbi, Naffaa ; Aldhalaan, Hesham M ; Alzaidan, Hamad ; Almanea, Hadeel M ; Alsalamah, Abrar K ; Al Mutairi, Fuad ; Ismail, Samira ; Abdel-Salam, Ghada M H ; Alhashem, Amal ; Asery, Ali ; Faqeih, Eissa ; AlQassmi, Amal ; Al-Hamoudi, Waleed ; Algoufi, Talal ; Shagrani, Mohammad ; Dudley, Aimée M ; Alkuraya, Fowzan S

Switzerland: Frontiers Media S.A

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

England: BioMed Central

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