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收藏Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology序列变异解释的标准和指南: 美国医学遗传学和基因组学学院和分子病理学协会的联合共识建议
Richards, Sue; Aziz, Nazneen; Bale, Sherri; Bick, David; Das, Soma; Gastier-Foster, Julie; Grody, Wayne W.; Hegde, Madhuri; Lyon, Elaine; Spector, Elaine; Voelkerding, Karl; Rehm, Heidi L.
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收藏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; Chedrawi, Aziza; Aldhalaan, Hisham; Kurdi, Wesam; Khan, Sameena; Rahbeeni, Zuhair; Alotaibi, Maha; Goljan, Ewa; Elbardisy, Hadeel; ElKalioby, Mohamed; Shah, Zeeshan; Alruwaili, Hibah; 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; Abu Khaled, Musad; Alsaleem, Khalid; Almugbel, Maisoon; Badawi, Manal; Bashiri, Fahad; Bohlega, Saeed; Sulaiman, Raashida; Tous, Ehab; Ahmed, Syed; Algoufi, Talal; Al-Mousa, Hamoud; Alaki, Emadia; Alhumaidi, Susan; Althagafi, Malak; 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; Abosoudah, Ibraheem; Alashwal, Abdullah; 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; Al Mutairi, Fuad; Alsaleh, Mona; Alsonbul, Abdullah; Alzelaye, Somaya; Bahzad, Shakir; Bin Manee, Abdulaziz; Jarrad, Ola; Meriki, Neama; Albeirouti, Bassem; Alqasmi, Amal; AlBalwi, Mohammed; Makhseed, Nawal; Hassan, Saeed; Salih, Isam; Salih, Mustafa A.; Shaheen, Marwan; Sermin, Saadeh; Shahrukh, Shamsad; Hashmi, Shahrukh; Shawli, Ayman; Tajuddin, Ameen; Tamim, Abdullah; Alnahari, Ahmed; Ghemlas, Ibrahim; Hussein, Maged; Wali, Sami; Murad, Hatem; Meyer, Brian F.; Alkuraya, Fowzan S.
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Christine M. Korsgaard
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收藏Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype
Brabbing-Goldstein, D.; Kozlova, D.; Bazak, L.; Basel-Salmon, L.; Gilboa, Y.; Marciano-Levi, I.; Zahra, J.; Kanengisser-Pines, B.; Botvinik, A.; Kurolap, A.; Birnbaum, R.; Yaron, Y.
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