未登录 分享 收藏
High-throughput evidence generation to support tentative gene-disease relationship from a cohort enriched for autozygosity and founder effect 高通量证据生成以支持来自富集自交亲和奠基者效应队列的候选基因-疾病关系 Bakur, Khadijah; Alhaddad, Bader; Balubaid, Ali; Makki, Syed; Mohamed, Sarar; Al Mutairi, Fuad; Alswaid, Abdulrahman; Al Ghamdi, Malak; Alanzi, Talal; Eyaid, Wafaa; Almuqbil, Mohammed A.; Mahnashi, Mohammed A.; Al-Otaibi, Maha; Awaji, Ali; Bubshait, Dalal K.; Alshuaibi, Walaa; Altassan, Ruqaiah; Gosadi, Ghadah; Almardawi, Elham; Alshenqiti, Abduljabbar; Al Faifi, Abdullah; Bin Abbas, Bassam; Al-Muhaizea, Mohammad A.; AlZaidan, Hamad; Al-Owain, Mohammed; Busehail, Maryam; Al Balushi, Aaisha; Abadel, Basma Ali; Al Shehhi, Maryam; Al Tenaiji, Amal; Al-Nawfal, Abdullah; Aljack, Moayed; AlBadawi, Ahmed; Hamid, Halima; Al Shalan, Maha; Alotaibi, Modhi; Alathel, Hala; Algaeed, Fahad; Musambil, Mohthash; Naji, Hamzah; Alhefdhi, Shatha; Alrabee, Hadeel; Al Harbi, Maha; Hakami, Fahad; Abothnain, Manal; Kari, Jameela A.; Shalaby, Mohamed A.; Almajhad, Nabil; Baarma, Hanan; Tabarki, Brahim; Al Masseri, Zainab; Sulaiman, Raashda A.; Ababneh, Faroug; Abukhaled, Musaad; Bashaikh, Afnan; AlGarni, Abdulaziz Mohammed; Alghamdi, Khalid A.; Alsowat, Daad; Alfarsi, Anar; Habhab, Wisam; AlAali, Wajeih; Tulbah, Maha I.; AlTaifi, Hatoon Ahmed; Almubayedh, Sondos; Alsalamah, Abrar K.; Alqassmi, Amal; Abdullah, Sameer; Al Tala, Saeed; Howsawi, Yousef; Alhumaidi, Suzan Suliman; Shok, Ahmed Abkar; Alwadei, Ali H.; Shagrani, Mohammad; Alkuraya, Hisham; Alshaya, Wael; Abumansour, Iman Sabri; Mushiba, Aziza M.; Algethami, Albandari; Assiri, Asma; Ba-Abbad, Rola; Alaskar, Ahmed S.; Almoallem, Basamat; Al Mahroos, Marwa; Alanazi, Rola; Alanezi, Ahmad A.; Albert-Brotons, Dimpna C.; Alhashem, Amal; Alatawi, Mona; Ben-Omran, Tawfeg; Alsagheir, Afaf; Kaya, Namik; Maddirevula, Sateesh; Baalawi, Wail; Alfadhel, Majid; AlAbdi, Lama; Alkuraya, Fowzan S. 分享 收藏
分享 收藏
POLG-related disorders: Clinical and molecular Spectrum in the Saudi population POLG相关疾病：沙特人群的临床与分子谱 Al Mutairi, Fuad; Joueidi, Faisal; Al Mutairi, Ziyad A.; Alshalan, Maha; Eyaid, Wafaa; Mushiba, Aziza M.; AlGhamdi, Malak; Tabarki, Brahim; AlGhamdi, Abdulaziz; AlTassan, Ruqaiah; Alzaidan, Hamad; Sharif, Abubakar; Aldhalaan, Hesham; Umair, Muhammad; Alfadhel, Majid 分享 收藏
分享 收藏
分享 收藏
分享 收藏
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature FBXO22缺乏定义了一种具有生长受限和多系统异常的累及多系统的综合征，其特征是具有独特的表观遗传标志。 Ramakrishna, NB; Sahari, UB; Johmura, Y; Ali, NA; Alghamdi, M; Bauer, P; Khan, S; Ordoñez, N; Ferreira, M; Basto, JP; Alkuraya, FS; Faqeih, EA; Mori, M; Almontashiri, NAM; Al Shamsi, A; Elghazali, G; Abu Subieh, H; Al Ojaimi, M; El-Hattab, AW; Al-Kindi, SAS; Alhashmi, N; Alhabshan, F; Al Saman, A; Tfayli, H; Arabi, M; Khalifeh, S; Taylor, A; Alfadhel, M; Jain, R; Sinha, S; Shenbagam, S; Ramachandran, R; Altunoglu, U; Jacob, A; Thalange, N; El Bejjani, M; Perrin, A; Shin, JW; Al-Maawali, A; Al-Shidhani, A; Al-Futaisi, A; Rabea, F; Chekroun, I; Almarri, MA; Ohta, T; Nakanishi, M; Alsheikh-Ali, A; Ali, FR; Bertoli-Avella, AM; Reversade, B; Abou Tayoun, A 分享 收藏
CIROZ is dispensable in ancestral vertebrates but essential for left in humans Szenker-Ravi, Emmanuelle; Ott, Tim; Yusof, Amirah; Chopra, Maya; Khatoo, Muznah; Pak, Beatrice; Goh, Wei Xuan; Beckers, Anja; Brady, Angela F.; Ewans, Lisa J.; Djaziri, Nabila; Almontashiri, Naif A. M.; Alghamdi, Malak Ali; Alharby, Essa; Dasouki, Majed; Romo, Lindsay; Tan, Wen-Hann; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Giordano, Jessica L.; Alkelai, Anna; Wapner, Ronald J.; Stals, Karen; Alfadhel, Majid; Alswaid, Abdulrahman Faiz; Bogusch, Susanne; Schafer-Kosulya, Anna; Vogel, Sebastian; Vick, Philipp; Schweickert, Axel; Wakeling, Matthew; Bellaing, Anne Moreau de; Alshamsi, Aisha M.; Sanlaville, Damien; Mbarek, Hamdi; Saad, Chadi; Ellard, Sian; Eisenhaber, Frank; Tripolszki, Kornelia; Beetz, Christian; Bauer, Peter; Gossler, Achim; Eisenhaber, Birgit; Blum, Martin; Bouvagnet, Patrice; Bertoli-Avella, Aida; Amiel, Jeanne; Gordon, Christopher T.; Reversade, Bruno 分享 收藏
分享 收藏
分享 收藏
分享 收藏
Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features 双等位基因HMGXB4功能丧失变体导致智力障碍，发育迟缓和畸形特征 Al Mutairi, Fuad; Joueidi, Faisal; Alshalan, Maha; Aloyouni, Essra; Ballow, Mariam; Aldrees, Mohammed; Al Abdulrahman, Abdulkareem; Al Tuwaijri, Abeer; Abbas, Safdar; Umair, Muhammad; Alfadhel, Majid 分享 收藏
Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene 从SCL19A3基因中携带纯合致病性错义变体的生物素-硫胺素反应性基底神经节疾病 (BTBGD) 的沙特患者中衍生出两个iPSC系 (KAIMRCi004-A，KAIMRCi004-B) Alowaysi, Maryam; Baadhaim, Moayad; Al-Shehri, Mohammad; Alzahrani, Hajar; Badkok, Amani; Attas, Hanouf; Zakri, Samer; Alameer, Seham; Malibari, Dalal; Hosawi, Manal; Daghestani, Mustafa; Al-Ghamdi, Khalid; Muharraq, Mohammed; Zia, Asima; Tegne, Jesper; Alfadhel, Majid; Aboalola, Doaa; Alsayegh, Khaled 分享 收藏
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia Saleh, Mohammed M.; Hamhom, Abdulrahim M.; Al-Otaibi, Ali; Alghamdi, Malak; Housawi, Yousef; Aljadhai, Yaser I.; Alameer, Seham; Almannai, Mohammed; Jad, Lamyaa A.; Alwadei, Ali H.; Tabassum, Sadia; Alsaman, Abdulaziz; Alasmari, Ali; Al Mutairi, Fuad; Althiyab, Hamad; Bashiri, Fahad A.; Alhumaidi, Suzan; Alfadhel, Majid; Mink, Jonathan W.; Alhashim, Aqeela; Faqeih, Eissa A. 分享 收藏
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa Al Yaarubi, Saif; Alsagheir, Afaf; Al Shidhani, Azza; Alzelaye, Somaya; Alghazir, Nadia; Brema, Imad; Alsaffar, Hussain; Al Dubayee, Mohammed; Alshahrani, Awad; Abdelmeguid, Yasmine; Omar, Omneya M.; Attia, Najya; Al Amiri, Elham; Al Jubeh, Jamal; Algethami, Albandari; Alkhayyat, Haya; Haleem, Azad; Al Yahyaei, Mouza; Khochtali, Ines; Babli, Saleha; Nugud, Ahmed; Thalange, Nandu; Albalushi, Sarah; Hergli, Nadia; Deeb, Asma; Alfadhel, Majid 分享 收藏
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Cali, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Zand, Farhad Khadivi; Toosi, Mehran Beiraghi; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Alkuraya, Fowzan S.; Jepson, James E. C.; Houlden, Henry 分享 收藏
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease Husain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio 分享 收藏
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023) Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad 分享 收藏
.png){kind=icon}
.png){kind=icon}
.png)
HUMAN CELL.png)
OAAI
.png){kind=icon}
分享.png){kind=icon}
收藏