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4 Resultados para Busca Geral

Ordenado por: Ordenado por: RelevânciaOr hit Enter to replace sort method

Refinado por: Nome da Publicação: American Journal Of Human Genetics

Result Number	Material Type	Record Details and Options
1	Material Type: Artigo	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. American journal of human genetics, 2019-06, Vol.104 (6), p.1202-1209 [Periódico revisado por pares] United States: Elsevier Inc Texto completo disponível Exibir Online Detalhes Resenhas & Tags Mais Opções Nº de Citações Citações Citado por
2	Material Type: Artigo	Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy Burns, David T. ; Donkervoort, Sandra ; Müller, Juliane S. ; Knierim, Ellen ; Bharucha-Goebel, Diana ; Faqeih, Eissa Ali ; Bell, Stephanie K. ; AlFaifi, Abdullah Y. ; Monies, Dorota ; Millan, Francisca ; Retterer, Kyle ; Dyack, Sarah ; MacKay, Sara ; Morales-Gonzalez, Susanne ; Giunta, Michele ; Munro, Benjamin ; Hudson, Gavin ; Scavina, Mena ; Baker, Laura ; Massini, Tara C. ; Lek, Monkol ; Hu, Ying ; Ezzo, Daniel ; AlKuraya, Fowzan S. ; Kang, Peter B. ; Griffin, Helen ; Foley, A. Reghan ; Schuelke, Markus ; Horvath, Rita ; Bönnemann, Carsten G. American journal of human genetics, 2018-05, Vol.102 (5), p.858-873 [Periódico revisado por pares] United States: Elsevier Inc Texto completo disponível Exibir Online Detalhes Resenhas & Tags Mais Opções Nº de Citações Citações Citado por
3	Material Type: Artigo	Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population 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. American journal of human genetics, 2019-06, Vol.104 (6), p.1182-1201 [Periódico revisado por pares] United States: Elsevier Inc Texto completo disponível Exibir Online Detalhes Resenhas & Tags Mais Opções Nº de Citações Citações Citado por
4	Material Type: Artigo	Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population 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. American journal of human genetics, 2019-10, Vol.105 (4), p.879-879 [Periódico revisado por pares] United States: Elsevier Inc Texto completo disponível Exibir Online Detalhes Resenhas & Tags Mais Opções Nº de Citações Citações Citado por