日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

RSF1基因的新生杂合变异是导致综合征性神经发育障碍的原因。

Jost, Céline; Busa, Tiffany; Wegner, Daniel; Shinawi, Marwan; Schaefer, Elise; Piton, Amélie; Schluth-Bolard, Caroline; Charles, Perrine; Keren, Boris; Mayerhanser, Katharina; Brunet, Theresa; Schatz, Ulrich; Neil, Jennifer E; Walsh, Christopher A; Sisco, Kathleen; J Paul, Alexander; Lee, Chung; Dykzeul, Natalie; Bonner, Devon; Bernstein, Jonathan A; Sutcliffe, Erin; Wentzensen, Ingrid M; Froehlich, Catherine; Liebler, Kaleigh; Galvin Parton, Patricia; Weiss-Burns, Jody; Sagnol, Chloé; Delanne, Julian; Racine, Caroline; Thauvin-Robinet, Christel; Safraou, Hana; Tran Mau-Them, Frédéric; Duffourd, Yannis; Bruel, Ange-Line; Faivre, Laurence

Estimating Future Demand for Dental Prostheses and Workforce Needs in a Dental Care Setting: The Saudi Experience

预测未来牙科修复体需求和牙科护理机构的人力需求:沙特阿拉伯的经验

Basunbul, Ghadeer; Katib, Ahmed; Almabadi, Afaf A; Shinawi, Lana A

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature

I型唾液酸沉积症:如何缓解致残性肌阵挛性癫痫发作?——一项包含8例病例的多中心分析及文献回顾

Gburek-Augustat, Janina; Lee, I-Chun; Rubino, Marica; Topçu, Vehap; Chavez-Castillo, Melissa; Tu, Shao Ching; Shinawi, Marwan; Alfradique-Dunham, Isabel; Valtcheva, Manouela; Adarmes-Gómez, Astrid; Macias-Garcia, Daniel; Laura Muñoz-Delgado, Laura; Jesús, Silvia; Mir, Pablo; Merkenschlager, Andreas; Coppola, Antonietta

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

通过基因组测序在疑似罕见病患者中鉴定出多种分子诊断

Malhotra, Alka; Thorpe, Erin; Coffey, Alison J; Rajkumar, Revathi; Adjeman, Josephine; Naa Adjeley Adjetey, Naomi Dianne; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C; Kawome, Martina; Lumaka, Aimé; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; McCarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M; Pena Salguero, Hildegard; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vanderver, Adeline; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J; Perry, Denise L; Kesari, Akanchha

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

与 SLC17A5 组织特异性嵌合相关的非典型游离唾液酸贮积症

Shinawi Marwan, Wegner Daniel J, Paul Alexander J, Buchser William, Schmidt Robert, Sharma Jaiprakash, Sardiello Marco, Sisco Kathleen, Manwaring Linda, Reynolds Margaret, Fulton Robert, Fronick Catrina, Shaver Andrew, Huang Tina Y, Carroll Ashley, Roessler Kyria, Halpern Aaron L, Dickson Patricia I, Wambach Jennifer A

Parkinson's Disease Database in the Middle East, North Africa, and South Asia Countries

中东、北非和南亚国家帕金森病数据库

Khalil, Hanan; Shraim, Mujahed; Jaradat, Bayan; Ibrahim, Riham Hussein; Kamel, Walaa A; Khan, Shazma; Aldughmi, Mayis; Amer, Hanan; Al-Qassabi, Ahmed; Al-Sharman, Alham; Habib, Ahsan; Alakkas, Aljoharah; Salari, Mehri; El-Jaafary, Shaimaa I; Siddiqui, Junaid; Aldaajani, Zakiyah; Al-Shorafat, Duha M; Elsalem, Khalid; Alhamid, Asma; Mohammad, Tareq M; Alkahtani, Malak Nasser; Alrumaihi, Najd Khalid; AlHawiti, Fatimah; Albadrani, Malak Ruwaished; Bajwa, Iman Zaynab; Khrisat, Ayah; Dahshan, Ahmed; Sabbah, Asmaa; Abd Algaber, Nesma Mounir; Shehata, Hatem Samir; Abdo, Sarah Sherif; Elaidy, Shaimaa A; Ghonimi, Nesma A M; Nasri, Amina; Mrad, Yasmine; Abida, Youssef Abida; Gouider, Riadh; Khalifa Al Hinai, Mahmood; Alhosni, Badriya Masoud; Farghal, Mohammed; Shinawi, Heba; Alsinaidi, Omar; Al Sariri, Shatha; Ahmed, Junaid; Bullo, Naeemullah; Younis, Rida; Sirajul Haque, A B S M; Anwar, Nayeem; Ghosh, Ranjit Kumar; Chowdhury, Jahirul Hoque; Nayeem, Abu; Kafil Uddin, Mohammad; Khalil, Mohammad Ibrahim; Islam, Md Rashedul; Ragab, Salma Mohamed; Farid, Mahmoud; Jamali, Fatima; Sherin, Akhtar; Bokhari, Wajeeha; Adnan, Sohail; Hassan, Aly; Nisa, Qamar Un; Hashmat, Irfan; Fatmi, Warda; Bajwa, Jawad A

Atypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and Genotype

IARS1相关疾病的非典型表现:扩展表型和基因型

Wongkittichote, Parith; Jonatzke, Kira E; Hyde, Benjamin T; Peterson, Lance W; He, Mai; McKinstry, Robert C; Antonellis, Anthony; Shinawi, Marwan

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

临床基因组测序对全球疑似罕见遗传疾病人群的影响

Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C; Campo, Miguel Del; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M; Urraca, Nora; Bosfield, Kerri; Brown, Chester W; Lydigsen, Holly; Mroczkowski, Henry J; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Peña; Lumaka, Aimé; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S; Perry, Denise L; Belmont, John; Taft, Ryan J

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3基因功能缺失变异导致综合征性神经发育障碍

Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B; Madden, Jill A; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger; Necpál, Ján; Jech, Robert; Winkelmann, Juliane; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F; Lerner-Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P A; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B; Mayr, Johannes A; Feichtinger, René G; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N; Klee, Eric W; Grand, Katheryn; Sanchez-Lara, Pedro A; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E; Tartaglia, Marco; Küry, Sébastien; Wang, Tianyun

Computed tomography benefits and cost in hemodynamically stable patients with blunt abdominal trauma at an Egyptian University Hospital

埃及某大学医院对血流动力学稳定的钝性腹部创伤患者进行计算机断层扫描的益处和成本分析

Abdel Hamid, Mohamed A; Abd-erRazik, Mohammad A; Nagy, Mostafa; El-Shinawi, Mohamed; Hirshon, Jon M; El-Setouhy, Maged