Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Maha AlNemer"'
Autor:
Sami Al-Hajjar, Lina Ibrahim, Wesam Kurdi, Maha Tulbah, Maha Alnemer, Mohammed Bin Jabr, Weam Elsaidawi, Abdulaziz Binmanee, Mohanned Ali, Hanifa Bukhari, Leena Altuwaijri, Raneem Allaboon, Reem Alghamdi, Bashayer Saeed, Yasser Adi, Fatima Alhamlan
Publikováno v:
Journal of Infection and Public Health, Vol 15, Iss 12, Pp 1503-1507 (2022)
Background: Understanding the impact of SARS-CoV-2 infection on pregnancy outcomes and of pregnancy on COVID-19 outcomes is critical for ensuring proper prenatal and antenatal care. No similar studies have been published in Saudi Arabia. Methods: We
Externí odkaz:
https://doaj.org/article/d1581bdefd6045f189383c0e0f6b6078
Autor:
Bashayer Saeed, Asma Tulbah, Marwah Bintalib, Edward Bentz De Vol, Samar Almogbel, Mawadah BaAli, Hanifa Bukhari, Meshayel Foudaneel, Jawaher Almutairi, Maram Bin Mahfodh, Maha Tulbah, Maha Alnemer, Wesam Kurdi
Publikováno v:
Journal of Perinatal Medicine.
Objectives Chorioangioma represents a challenge due to the rarity of the condition, paucity of sufficient management guidelines, and controversies regarding the best invasive fetal therapy option; most of the scientific evidence for clinical treatmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d541ce3c4e6066eb4ba214efe505ddd9
https://doi.org/10.1515/jpm-2021-0085
https://doi.org/10.1515/jpm-2021-0085
Autor:
Nada Derar, John A. Sayer, Khushnooda Ramzan, Gawaher Almutairi, Bashayer Saeed, Hanifa Bukhari, Nora Almuhana, Rubina Khan, Laila Alquayt, Maha Tulbah, Rafiullah Rafiullah, Maisoon Almugbel, Saja S Alamri, Dorota Monies, Faiqa Imtiaz, Asma Akilan, Abrar AlKhalifah, Mirna Assoum, Rana Akili, Fahad Hakami, Samia AlDawoud, Wardah AlMubarak, Zuhair Rahbeeni, Afaf Al-Otaibi, Amal AlShammasi, Wesam Kurdi, Samia Hagos, Maha Alnemer, Nada Alsahan, Hadeel Elbardisy, Wafaa Ali, Mohannad Ali, Mohamed Abouelhoda, Mohamed H Al-Hamed, Zeeshan Shah
Publikováno v:
Human Genetics. 141:101-126
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62727c75f16b3614a697df65b5799d2b
https://doi.org/10.1007/s00439-021-02406-9
https://doi.org/10.1007/s00439-021-02406-9
Autor:
Suma P. Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg, Lama AlAbdi, Klaus Mayer, Koray Ütkür, Kristin G. Monaghan, Joel Krier, Joan Stoler, Maha Alnemer, Prabhu R. Shankar, Raffael Schaffrath, Fowzan S. Alkuraya, Ulrich Brinkmann, Leif A. Eriksson, Kent Lloyd, Katherine A. Rauen, Maria T. Acosta, Margaret Adam, David R. Adams, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D'Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Matthew Deardorff, Esteban C. Dell'Angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Marni Falk, Liliana Fernandez, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, Ian Glass, Bernadette Gochuico, Rena A. Godfrey, Katie Golden-Grant, Madison P. Goldrich, Alana Grajewski, Irma Gutierrez, Don Hadley, Sihoun Hahn, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yong Huang, Wendy Introne, Rosario Isasi, Kosuke Izumi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Orpa Jean-Marie, Vaidehi Jobanputra, Lefkothea Karaviti, Jennifer Kennedy, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Susan Korrick, Mary Koziura, Seema R. Lalani, Byron Lam, Christina Lam, Grace L. LaMoure, Brendan C. Lanpher, Ian R. Lanza, Kimberly LeBlanc, Brendan H. Lee, Roy Levitt, Richard A. Lewis, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Bryan C. Mak, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Alexa T. McCray, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo M. Moretti, Mariko Nakano-Okuno, Stan F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, Lorraine Potocki, Barbara N. Pusey, Aaron Quinlan, Wendy Raskind, Archana N. Raja, Deepak A. Rao, Anna Raper, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Mario Saporta, C. Ron Scott, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Vandana Shashi, Jimann Shin, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily Solem, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Jennifer A. Sullivan, Kathleen Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Amelia L.M. Tan, K.-G. Queenie, Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Brianna M. Tucker, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Stephanie Wallace, Nicole M. Walley, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz-Hubshman, Mark Wener, Tara Wenger, Katherine Wesseling Perry, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Kim Worley, Changrui Xiao, Shinya Yamamoto, John Yang, Diane B. Zastrow, Zhe Zhang, Chunli Zhao, Stephan Zuchner, Hugo Bellen, Rachel Mahoney
Publikováno v:
Genet Med
Diphthamide is a post-translationally modified histidine essential for messenger RNA translation and ribosomal protein synthesis. We present evidence for DPH5 as a novel cause of embryonic lethality and profound neurodevelopmental delays (NDDs).Molec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2849ecd621bdfbc498f29cf1d7b8323a
https://europepmc.org/articles/PMC9598985/
https://europepmc.org/articles/PMC9598985/
Autor:
Mohamed Al-Hamed, Wesam Kurdi, Rubina Khan, Maha Tulbah, Maha AlNemer, Nada AlSahan, Maisoon AlMugbel, Rafiullah Rafiullah, Mirna Assoum, Zuhair Rahbeeni, Nada Derar, Fahad Hakami, Gawaher Almutairi, Afaf AlOtaibi, Wafaa Ali, Amal AlShammasi, Wardah AlMubarak, Samia AlDawoud, Saja AlAmri, Bashayer Saeed, Hanifa Bukhari, Mohannad Ali, Rana Akili, Laila Alquayt, Hadeel Elbardisy, Asma Akilan, Nora Almuhana, Abrar AlKhalifah, Khushnooda Ramzan, John A. Sayer, Faiqa Imtiaz
Background Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28c479d7a38d1c84b474c12a6461390d
https://doi.org/10.21203/rs.3.rs-828519/v1
https://doi.org/10.21203/rs.3.rs-828519/v1
Autor:
Mohamed H, Al-Hamed, Wesam, Kurdi, Rubina, Khan, Maha, Tulbah, Maha, AlNemer, Nada, AlSahan, Maisoon, AlMugbel, Rafiullah, Rafiullah, Mirna, Assoum, Dorota, Monies, Zeeshan, Shah, Zuhair, Rahbeeni, Nada, Derar, Fahad, Hakami, Gawaher, Almutairi, Afaf, AlOtaibi, Wafaa, Ali, Amal, AlShammasi, Wardah, AlMubarak, Samia, AlDawoud, Saja, AlAmri, Bashayer, Saeed, Hanifa, Bukhari, Mohannad, Ali, Rana, Akili, Laila, Alquayt, Samia, Hagos, Hadeel, Elbardisy, Asma, Akilan, Nora, Almuhana, Abrar, AlKhalifah, Mohamed, Abouelhoda, Khushnooda, Ramzan, John A, Sayer, Faiqa, Imtiaz
Publikováno v:
Human genetics. 141(1)
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05f5ca1e35538c0d0a604ebde41b5b6c
https://pubmed.ncbi.nlm.nih.gov/34853893
https://pubmed.ncbi.nlm.nih.gov/34853893
Autor:
Mais Hashem, Moeenaldeen Al-Sayed, Mohamed H Al-Hamed, Maha Alnemer, Wenkai Han, Mohamed Tohary, Yongkang Long, Almundher Al-Maawali, Feisal Al Mahrizi, Xin Gao, Khalid Al-Thihli, Fowzan S. Alkuraya, Hiroyuki Kuwahara, Gabrielle Lemire, Lana Fathi, Kym M. Boycott, Fatema Alzahrani, Mohammed Al-Owain, Mohammed Mahnashi
Publikováno v:
Am J Hum Genet
Summary We have previously described a heart-, eye-, and brain-malformation syndrome caused by homozygous loss-of-function variants in SMG9, which encodes a critical component of the nonsense-mediated decay (NMD) machinery. Here, we describe four con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d05bc8b341849e7dbd6893d056a55a8e
https://pubmed.ncbi.nlm.nih.gov/33242396
https://pubmed.ncbi.nlm.nih.gov/33242396
Autor:
Alya Alkaff, Wafaa Eyaid, Nada Alsahan, Rubina Khan, Niema Meriki, Yasser Alsaber, Saeed Al Tala, Mohamed Zain Seidahmed, Fatima Almusafri, Firdous Abdulwahab, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Mariam Al Mulla, Hanan E. Shamseldin, Zeneb A. Babay, Eissa Faqeih, Ahmed Kurdi, Elham Al Mardawi, Karen El-Akouri, Ola Khalifa, Ranad Shaheen, Wesam Kurdi, Nour Ewida, Sebahattin Cirak, Eman Alobeid, Alya Qari, Zuhair Rahbeeni, Matthias Pergande, Maha Alnemer, Maha Tulbah, Bahauddin Sallout, Tarfa Alshidi, Amal Alhashem, Niema Ibrahim, Mais Hashem
Publikováno v:
Genetics in Medicine. 20:420-427
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ac4675b661434f7cd7e50ac6fca273
https://doi.org/10.1038/gim.2017.111
https://doi.org/10.1038/gim.2017.111
Autor:
Hesham Aldhalaan, Hissah Alnuwaysir, Maha Alnemer, Nujud Alrushud, Abdullah Alkhenizan, Iman Al-Saleh, Mohamed Shoukri, Rola Elkhatib, Patricia McWalter
Publikováno v:
Environmental Research. 195:110882
Phthalates are the most ubiquitous contaminants that we are exposed to daily due to their wide use as plasticizers in various consumer products. A few studies have suggested that in utero exposure to phthalates can disturb fetal growth and developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5e3fd348f44b6c0022089a369cd4a7a
https://doi.org/10.1016/j.envres.2021.110882
https://doi.org/10.1016/j.envres.2021.110882
Autor:
Mohamed Abouelhoda, John A. Sayer, Maha Alnemer, Dorota Monies, Maha Tulbah, Nada Al-Tassan, Salma Majid, Haya Al-Jurayb, Ahmed Alahmed, Mamdouh Albaqumi, Brian F. Meyer, Nada Alsahan, Dania S. Khalil, Mohamed H Al-Hamed, Basma Al Abdulaziz, Faisal S. BinHumaid, Rania Abudraz, Wesam Kurdi, Mohamed El-Kalioby, Noel Edwards, Asma I. Tahir, Zainab Alabdullah, Rubina Khan, Tariq Faquih
Publikováno v:
Journal of Medical Genetics
Background Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease. Metho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f95f0d1dfcafd00aaf7b2bf67d7639
https://doi.org/10.1136/jmedgenet-2015-103469
https://doi.org/10.1136/jmedgenet-2015-103469