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Maha S. Zaki

National Research Centre

56H指数
371论文数
1.1W被引数
收录论文 164
发表时间
A Middle East collaborative for undiagnosed diseases中东未诊断疾病合作组织
err2026-09-18
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PREAI
errOmer S. Alkhnbashi; Hamad Ali; Almundher Al-Maawali; Naif A. M. Almontashiri; Uğur Özbek; Maha S. Zaki; Mouhammed Ali Ajlouny; Issa Abu-Dayyeh; Rami Abdel-Rahim Mahfouz; Abdullah M. Baghfar; Khalaf Hussein Gargary; Ali M. Batarfi; Barrak Alahmad; Abdullah Alibrahim; Dana Marafi; Hind Alsharhan; Salman Al Sabah; Oktay I. Kaplan; Fatma Al Jasmi; Majid Alfadhel; Bruno Reversade; Hilal A. Lashuel; Khalid Fakhro; Fowzan S. Alkuraya; Fahd Al-Mulla; Alawi Alsheikh-Ali; Ahmad Abou Tayoun
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Phenotypic and genetic characterization of 64 Egyptian children with neuronal ceroid lipofuscinosis64例患有神经元蜡样脂褐质沉积症的埃及儿童的表型和遗传特征
err2026-07-08
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PREAI
errElsayed Abdelkreem; Abdelrahim A. Sadek; Mohammed A. Aladawy; Ziad N. Rezk; Abeer Salamah; Karima Rafat; Rofaida M. Magdy; Mahmoud Y. Issa; Ali Farrag El Hadad; Hasnaa M. Elbendary; Tarek Mohamed M. Mansour; Ali Helmi Bakri; Mohamed S. Abdel-Hamid; Maha S. Zaki
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The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI将基因检测整合到生殖医学中的重要性:一项调查考虑ICSI的夫妇中人类不孕症的常染色体显性病因的回顾性观察研究
err2026-06-24
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PREAI
errSara H. El-Dessouky; Wessam E. Sharaf-Eldin; Islam F. Soliman; Mona M. Aboulghar; Ahmed Abou El-Serour; Ashraf Ali; Sameh Senousy; Lova Matsa; Mohamed Maher; Dalia S. Zolfokar; Mohamed A. Youssef; Hatem A. Mousa; Maha M. Eid; Maha S. Zaki; Ebtesam M. Abdalla
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COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathyCOXFA4L2上调在COXFA4相关 Leigh样脑病中维持残余细胞色素c氧化酶活性
err2026-05-30
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errOAAI
errMicol Falabella; Sandra Lopez Calcerrada; Jana Aref; Jiaze Gao; William L. Macken; Chiara Pizzamiglio; Renata Kabiljo; Anna Lucia Francavilla; Pauline Gaignard; Antoine Pouzet; Jonathan Levy; Giulia Barcia; Jamie K. Leighton; Efstathia Chronopoulou; Germaine Pierre; Riza Köksal Özgül; Ali Dursun; Rebecca Halligan; Helen Mundy; Javeria Raza Alvi; Tipu Sultan; William James Craigen; Lisa Emrick; Jill A. Rosenfeld; Gehad Elmakkawy; JiHye Kim; Joseph J. Gleeson; Aboulfazl Rad; Gabriela Oprea; Maqbool Hussain; Khalil Ur Rehman; Sadia Riaz; Robert W. Taylor; Vincent Procaccio; Maha S. Zaki; Erika Fernandez-Vizarra; Ciro Leonardo Pierri; Michael G. Hanna; Henry Houlden; Reza Maroofian; Cristina Ugalde; Jan-Willem Taanman; Robert D. S. Pitceathly
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiessnRNA基因的系统分析揭示了显性和隐性发育性和癫痫性脑病中常见的RNU2-2变异
err2026-03-30
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errOAAI
errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian Cohort
err2026-01-14
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PREAI
errAsmaa F. Abdel Aleem; Nagia Fahmy; Maha S. Zaki; Karima Rafat; Ekram M. Fateen; Heba A. Hassan; Mona L. Esswai
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Neurodevelopmental Disease-causing Variants in Choline Kinase CHKA Gene Couple Phosphatidylcholine Synthesis to Oxidative Stress Damage and Disease Etiology神经发育性疾病致病变异在胆碱激酶CHKA基因中,将磷脂酰胆碱合成与氧化应激损伤及疾病病因相耦合。
err2025-11-25
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errOAAI
errMahtab Tavasoli; Mariam Alkandari; Gabriel Dorighello; Michael McPhee; Neale D. Ridgway; Kathy Isaac; Stanislav Sokolenko; Reza Maroofian; Anju Shukla; Maha S. Zaki; Henry Houlden; Christopher R. McMaster
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A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders表型类脑器官图谱及生物样本库,用于神经发育障碍研究
err2025-11-03
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PREAI
errLu Wang; Yuji Nakamura; Junhao Li; David Sievert; Yang Liu; Toan Nguyen; Prudhvi Sai Jetti; Ethan Thai; Rachel Yibei Zhou; Jiaming Weng; Naomi Meave; Manya Yadavilli; Robyn Howarth; Kevin Camey; Niyati Banka; Charlotte Owusu-Hammond; Chelsea Barrows; Stephen F. Kingsmore; Maha S. Zaki; Eran Mukamel; Joseph G. Gleeson
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CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathiesCEP76在中心体-纤毛界面上的功能障碍会导致一系列纤毛病。
err2025-10-17
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PREAI
errKamal Khan; Erika Tavares; Katherine Bishara; Aysegul Ozanturk; Leila Qebibo; Stephan Frangakis; Daniel G. Calame; Isabelle Meunier; Béatrice Bocquet; Rafal Ploski; Mohammad Ayman Al Khateeb; Dana Marafi; Luke Mansard; Lena Damaj; Richard A. Lewis; Farid Ullah; Thomas Arbogast; Jackson P. Ogden; Madeleine Harion; Marjolaine Willems; Maha S. Zaki; Tobias Bartolomaeus; Anne-Françoise Roux; James R. Lupski; Malgorzata Rydzanicz; Rami Abou Jamra; Francis Ramond; Elise Heon; Lydie Burglen; Erica E. Davis
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Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal MovementsGOT2缺乏症的全面基因型、表型及生化表征:一种伴有癫痫和异常运动的进行性神经发育障碍
err2025-09-23
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PREAI
errHannah M. German; Maha S. Zaki; Muhammad A. Usmani; Irem Karagoz; Stephanie Efthymiou; Mohamed S. Abdel-Hamid; Haya Abdelhafez Arabiyat; Amama Ghaffar; Mohsin Shahzad; Hans van Bokhoven; Zubair M. Ahmed; Omid Yaghini; Neda Hosseini; Maede Majidinezhad; Shahryar Alavi; Marjolein Bosma; Melissa H. Broeks; Dilşad Türdoğan; Mohnish Suri; Laiz Laura de Godoy; Nanda M. Verhoeven-Duif; Sheikh Riazuddin; Joseph G. Gleeson; Cesar Alves; Judith J.M. Jans; Saima Riazuddin; Henry Houlden; Reza Maroofian
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A clinical and genotype-phenotype analysis of MACF1 variantsMACF1变异的临床与基因型-表型分析
err2025-09-08
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PREAI
errJordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
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PIGC-related encephalopathy: Lessons learned from 18 new probandsPIGC相关的脑病:从18例新先证者中获得的经验教训
err2025-09-01
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PREAI
errBayat, Allan; Borroto, Maria Carla; Salian, Smrithi; Zaki, Maha S.; Benkerroum, Hind; Elbendary, Hasnaa M.; Nguyen, Thi Tuyet Mai; Sadek, Abdelrahim A.; Carli, Diana; Brusco, Alfredo; Ferrero, Giovanni Battista; Tartaglia, Marco; Hay, Eleanor; Krey, Ilona; A. Jamra, Rami; Bartolomaeus, Tobias; Knaus, Alexej; Gleeson, Joseph G.; Houlden, Henry; Dominik, Natalia; Jackson, Adam; Douzgou Houge, Sofia; Banka, Siddharth; Mohammadi-asl, Javad; Hajjari, Mohammadreza; Azizimalamiri, Reza; Nourbakhsh, Pardis; Neissi, Mostafa; Scardamaglia, Annarita; Li, Dianfan; Kinoshita, Taroh; Maroofian, Reza; Murakami, Yoshiko; Campeau, Philippe M.
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An iPSC-derived neuronal model reveals manganese’s role in neuronal endocytosis, calcium flux and mitochondrial bioenergeticsiPSC来源的神经元模型揭示了锰在神经元内吞作用、钙离子流和线粒体生物能量学中的作用
err2025-08-06
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errOAAI
errDimitri Budinger; Sharmin Alhaque; Ramón González-Méndez; Chris Dadswell; Katy Barwick; Arianna Ferrini; Charlotte Roth; Conor J. McCann; Karin Tuschl; Fatma Al Jasmi; Maha S. Zaki; Julien H. Park; Russell C. Dale; Shekeeb Mohammad; John Christodoulou; Dale Moulding; Michael R. Duchen; Serena Barral; Manju A. Kurian
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Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar AtaxiaANK3功能缺失导致一种伴小脑共济失调的隐性神经发育障碍
err2025-08-04
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errOAAI
errReza Maroofian PhD; Giulia Spoto MD; Dalila Moualek MD; Maha S. Zaki MD, PhD; Asthik Biswas MD; Felice D'Arco MD; Sajjad Biglari PhD; Pooneh Nikuei MD; Joseph G. Gleeson MD; Meriem Tazir MD; Lamia Ali Pacha MD; Henry Houlden MD, PhD
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Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathyRitscher-Schinzel综合征可被表征为一种内体再循环障碍症。
err2025-07-02
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PREAI
errKohji Kato; Yosuke Nishio; Kirsty J. McMillan; Aljazi Al-Maraghi; Hester Y. Kroes; Mohamed S. Abdel-Hamid; Emma Jones; Shrestha Shaw; Aya Yoshida; Shiomi Otsuji; Yuka Murofushi; Waleed Aamer; Ajaz A. Bhat; Jehan AlRayahi; Ammira S. Al-Shabeeb Akil; Elbay Aliyev; Ellen van Binsbergen; Etienne J. Janssen; Kazi Mahnaz Mehrin; Hisashi Oishi; Ryosuke Kobayashi; Takuro Horii; Izuho Hatada; Akihiko Saito; Mitsuharu Hattori; Yoshihiko Kawano; Philip A. Lewis; Kate J. Heesom; Takeshi Takarada; Kazunobu Sawamoto; Masaki Matsushita; Tomoo Ogi; Rebeka Butkovic; Chris Danson; Kevin A. Wilkinson; Khalid A. Fakhro; Maha S. Zaki; Shinji Saitoh; Peter J. Cullen
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HPDL Variant Type Correlates With Clinical Disease Onset and SeverityHPDL变异类型与临床疾病发病及严重程度相关。
err2025-05-14
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errEun Hye Lee; Olivia Kim-Mcmanus; Jennifer H. Yang; Richard Haas; Maha S. Zaki; Ghada M. H. Abdel-Salam; Yuji Nakamura; Mohamed S. Abdel-Hamind
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Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing分析拷贝数变异是外显子测序中的一个重要考量。
err2025-04-29
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PREAI
errAsmaa K. Amin; Sara H. El-Dessouky; Marwa Abd Elmaksoud; Amira Nabil; Mona M. Aboulghar; Sameh M. Senousy; Nagham M. Elbagoury; Asmaa F. Abdel-Aleem; Mona L. Essawi; Heba A. El-Awady; Engy A. Ashaat; Mahmoud Y. Issa; Khoushoua Alaadin; Lova S. Matsa; Noha M. Issa; Maha S. Zaki; Maha Mohamed Eid; Wessam E. Sharaf-Eldin; Ebtesam Abdalla
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The contribution of de novo coding mutations to meningomyelocele新生编码突变的贡献对脊膜膨出的影响
errNATURE
IF48.5
err2025-03-26
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errOAAI
errHa, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng loi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A.; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B.; Benoit, Beatrice; Pous, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E.; Finnell, Richard H.; Le, Joan T.; Meltzer, Hal S.; Araujo, Camila; Machado, Helio R.; Stevenson, Roger E.; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M.; Medina-Bereciartu, Jose Ramon; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I.; Capra, Valeria; Noureldeen, Mahmoud M.; Salem, Aida M. S.; Issa, Mahmoud Y.; Zaki, Maha S.; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R.; Kingsmore, Stephen F.; Murray, Stephen A.; Gee, Heon Yung; Miller, W. Todd; Tolias, Kimberley F.; Wallingford, John B.; Kim, Sangwoo; Spina Bifida Sequencing Consortium, Joan T.; Koch, Allison E. Ashley; Lupo, Philip J.; Magana, Tony; Kolvenbach, Caroline M.; Shril, Shirlee; Takahashi, Yukitoshi; Salimi-Dafsari, Hormos; Hanak, Brian; Kara, Bulent; Gunes, Ayfer Sakarya; Gonda, David D.; Kirmani, Salman; Tkemaladze, Tinatin
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