المؤلفون: Zaki, Maha S, Sharaf‐Eldin, Wessam E, Rafat, Karima, Elbendary, Hasnaa M, Kamel, Mona, Elkhateeb, Nour, Noureldeen, Mahmoud M, Abdeltawab, Mohamed A, Sadek, Abdelrahim A, Essawi, Mona L, Lau, Tracy, Murphy, David, Abdel‐Hamid, Mohamed S, Holuden, Henry, Issa, Mahmoud Y, Gleeson, Joseph G

المصدر: Clinical Genetics. 104(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Neurodegenerative, Clinical Research, Neurosciences, Brain Disorders, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Egypt, Guanine Nucleotide Exchange Factors, DNA Mutational Analysis, Mutation, ALS2, IAHSP, JPLS, UMNL, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2tn8t7jd

المؤلفون: Sidpra, Jai, Sudhakar, Sniya, Biswas, Asthik, Massey, Flavia, Turchetti, Valentina, Lau, Tracy, Cook, Edward, Alvi, Javeria Raza, Elbendary, Hasnaa M., Jewell, Jerry L., Riva, Antonella, Orsini, Alessandro, Vignoli, Aglaia, Federico, Zara, Rosenblum, Jessica, Schoonjans, An-Sofie, de Wachter, Matthias, Alvarez, Ignacio Delgado, Felipe-Rucián, Ana, Haridy, Nourelhoda A., Haider, Shahzad, Zaman, Mashaya, Banu, Selina, Anwaar, Najwa, Rahman, Fatima, Maqbool, Shazia, Yadav, Rashmi, Salpietro, Vincenzo, Maroofian, Reza, Patel, Rajan, Radhakrishnan, Rupa, Prabhu, Sanjay P., Lichtenbelt, Klaske, Stewart, Helen, Murakami, Yoshiko, Löbel, Ulrike, D'Arco, Felice, Wakeling, Emma, Jones, Wendy, Hay, Eleanor, Bhate, Sanjay, Jacques, Thomas S., Mirsky, David M., Whitehead, Matthew T., Zaki, Maha S., Sultan, Tipu, Striano, Pasquale, Jansen, Anna C., Lequin, Maarten, de Vries, Linda S., Severino, Mariasavina, Edmondson, Andrew C., Menzies, Lara, Campeau, Philippe M., Houlden, Henry, McTague, Amy, Efthymiou, Stephanie, Mankad, Kshitij

المساهمون: Radiology and Imaging Sciences, School of Medicine

المصدر: PMC

مصطلحات موضوعية: GPI, Congenital disorders of glycosylation, Developmental delay, Epilepsy, Neurodevelopmental disorder, Neuroimaging

وصف الملف: application/pdf

Relation: Brain; https://hdl.handle.net/1805/43870

الاتاحة: https://hdl.handle.net/1805/43870

المؤلفون: 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, Calì, 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, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed

المصدر: The American Journal of Human Genetics ; volume 111, issue 1, page 200-210 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.11.012
https://api.elsevier.com/content/article/PII:S0002929723004305?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929723004305?httpAccept=text/plain

المؤلفون: Issa, Mahmoud Y, Chechlacz, Zinayida, Stanley, Valentina, George, Renee D, McEvoy-Venneri, Jennifer, Belandres, Denice, Elbendary, Hasnaa M, Gaber, Khaled R, Nabil, Ahmed, Abdel-Hamid, Mohamed S, Zaki, Maha S, Gleeson, Joseph G

المصدر: BMC Medical Genomics. 13(1)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Brain Disorders, Perinatal Period - Conditions Originating in Perinatal Period, Genetic Testing, Pediatric, Reproductive health and childbirth, Good Health and Well Being, Child, Preschool, Female, Genes, Recessive, Genetic Markers, Genetic Predisposition to Disease, Genotype, High-Throughput Nucleotide Sequencing, Humans, Infant, Infant, Newborn, Male, Mutation, Nervous System Diseases, Pedigree, Pregnancy, Prenatal Diagnosis, Recurrence, Retrospective Studies, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6jq364tf
https://escholarship.org/content/qt6jq364tf/qt6jq364tf.pdf

المؤلفون: Sharaf-Eldin, Wessam E., Rafat, Karima, Issa, Mahmoud Y., Elbendary, Hasnaa M., Eissa, Noura R., Hawaary, Bahaa, Gaboon, Nagwa E. A., Maroofian, Reza, Gleeson, Joseph G., Essawi, Mona L., Zaki, Maha S.

المصدر: Journal of Molecular Neuroscience; Dec2024, Vol. 74 Issue 4, p1-11, 11p

المؤلفون: Aledo-Serrano, Angel, Battaglia, Giulia, Blenkinsop, Stephen, Delanty, Norman, Elbendary, Hasnaa M, Eyal, Sara, Guekht, Alla, Gulcebi, Medine I, Henshall, David C, Hildebrand, Michael S, Macrohon, Bernadette, Madaan, Priyanka, Mifsud, Janet, Mills, James D, Neill, Kathryn Hodgson, Romagnolo, Alessia, Vezzani, Annamaria, Sisodiya, Sanjay M

المصدر: Seizure , 106 pp. 68-75. (2023)

مصطلحات موضوعية: Epilepsy, Global crisis, Global warming, Neurology, Seizure

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10165743/1/SEIZURE-S-23-00088.pdf; https://discovery.ucl.ac.uk/id/eprint/10165743/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10165743/1/SEIZURE-S-23-00088.pdf
https://discovery.ucl.ac.uk/id/eprint/10165743/

المؤلفون: Elaraby, Nesma M., Galal, Eman Reda, Abdel-Hamid, Mohamed, Elbendary, Hasnaa M., Elbadry, Mohamed, Mekkawy, Mona K., Ashaat, Neveen A., Mounir, Samir M., Ashaat, Engy A.

المساهمون: National Research Centre Egypt

المصدر: Journal of Molecular Neuroscience ; volume 73, issue 7-8, page 598-607 ; ISSN 0895-8696 1559-1166

الاتاحة: http://dx.doi.org/10.1007/s12031-023-02139-6
https://link.springer.com/content/pdf/10.1007/s12031-023-02139-6.pdf
https://link.springer.com/article/10.1007/s12031-023-02139-6/fulltext.html

المؤلفون: Elhossini, Rasha M., Elbendary, Hasnaa M., Rafat, Karima, Ghorab, Raghda M., Abdel-Hamid, Mohamed S.

المساهمون: STDF, National Research Centre Egypt

المصدر: Molecular Genetics and Genomics ; volume 298, issue 3, page 709-720 ; ISSN 1617-4615 1617-4623

الاتاحة: http://dx.doi.org/10.1007/s00438-023-02009-1
https://link.springer.com/content/pdf/10.1007/s00438-023-02009-1.pdf
https://link.springer.com/article/10.1007/s00438-023-02009-1/fulltext.html

المؤلفون: Elbendary, Hasnaa

المصدر: IBRO Neuroscience Reports ; volume 15, page S922 ; ISSN 2667-2421

الاتاحة: http://dx.doi.org/10.1016/j.ibneur.2023.08.1940
https://api.elsevier.com/content/article/PII:S266724212302002X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S266724212302002X?httpAccept=text/plain

المؤلفون: Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma

المساهمون: Muscular Dystrophy Association, Ataxia UK, American Brain Foundation, European Research Council, American Academy of Neurology, King Salman Center for Disability Research, Brain Research UK, National Institute of Neurological Disorders and Stroke, Baylor-Hopkins Center for Mendelian Genomics, International Rett Syndrome Foundation, Medical Research Council, National Institutes of Health, Muscular Dystrophy UK, University College London Hospitals Biomedical Research Centre, National Heart, Lung, and Blood Institute, Multiple System Atrophy Trust, National Human Genome Research Institute, Rosetrees Trust, Takeda Science Foundation, Great Ormond Street Hospital Charity, Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science, Horizon 2020 Framework Programme, Horizon 2020

المصدر: Genetics in Medicine ; volume 25, issue 1, page 90-102 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.09.010
https://api.elsevier.com/content/article/PII:S1098360022009480?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022009480?httpAccept=text/plain

المؤلفون: Aledo-Serrano, Angel, Battaglia, Giulia, Blenkinsop, Stephen, Delanty, Norman, Elbendary, Hasnaa M, Eyal, Sara, Guekht, Alla, Gulcebi, Medine I, Henshall, David C, Hildebrand, Michael S., Macrohon, Bernadette, Madaan, Priyanka, Mifsud, Janet, Mills, James D., Neill, Kathryn Hodgson, Romagnolo, Alessia, Vezzani, Annamaria, Sisodiya, Sanjay M

المصدر: Seizure: European Journal of Epilepsy ; volume 111, page 164 ; ISSN 1059-1311

الاتاحة: https://doi.org/10.1016/j.seizure.2023.08.013
https://api.elsevier.com/content/article/PII:S1059131123002285?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1059131123002285?httpAccept=text/plain

المؤلفون: Genetica Klinische Genetica, Child Health, MS Radiologie, Circulatory Health, MS Neonatologie, Sidpra, Jai, Sudhakar, Sniya, Biswas, Asthik, Massey, Flavia, Turchetti, Valentina, Lau, Tracy, Cook, Edward, Alvi, Javeria Raza, Elbendary, Hasnaa M, Jewell, Jerry L, Riva, Antonella, Orsini, Alessandro, Vignoli, Aglaia, Federico, Zara, Rosenblum, Jessica, Schoonjans, An-Sofie, de Wachter, Matthias, Delgado Alvarez, Ignacio, Felipe-Rucián, Ana, Haridy, Nourelhoda A, Haider, Shahzad, Zaman, Mashaya, Banu, Selina, Anwaar, Najwa, Rahman, Fatima, Maqbool, Shazia, Yadav, Rashmi, Salpietro, Vincenzo, Maroofian, Reza, Patel, Rajan, Radhakrishnan, Rupa, Prabhu, Sanjay P, Lichtenbelt, Klaske, Stewart, Helen, Murakami, Yoshiko, Löbel, Ulrike, D'Arco, Felice, Wakeling, Emma, Jones, Wendy, Hay, Eleanor, Bhate, Sanjay, Jacques, Thomas S, Mirsky, David M, Whitehead, Matthew T, Zaki, Maha S, Sultan, Tipu, Striano, Pasquale, Jansen, Anna C, Lequin, Maarten, de Vries, Linda S, Severino, Mariasavina, Edmondson, Andrew C, Menzies, Lara, Campeau, Philippe M, Houlden, Henry, McTague, Amy, Efthymiou, Stephanie, Mankad, Kshitij

URL: https://doi.org/10.1093/brain/awae056
http://hdl.handle.net/1874/454832
https://dspace.library.uu.nl/handle/1874/454832
http://www.scopus.com/inward/record.url?scp=85200243429&partnerID=8YFLogxK
0006-8950
Brain : a journal of neurology
147
8

المؤلفون: Kaiyrzhanov, Rauan, Zaki, Maha S., Lau, Tracy, Sen, Sambuddha, Azizimalamiri, Reza, Zamani, Mina, Sayin, Gözde Yeşil, Hilander, Taru, Efthymiou, Stephanie, Chelban, Viorica, Brown, Ruth, Thompson, Kyle, Scarano, Maria Irene, Ganesh, Jaya, Koneev, Kairgali, Gülaçar, Ismail Musab, Person, Richard, Sadykova, Dinara, Maidyrov, Yerdan, Seifi, Tahereh, Zadagali, Aizhan, Bernard, Geneviève, Allis, Katrina, Elloumi, Houda Zghal, Lindy, Amanda, Taghiabadi, Ehsan, Verma, Sumit, Logan, Rachel, Kirmse, Brian, Bai, Renkui, Khalaf, Shaimaa M., Abdel‐Hamid, Mohamed S., Sedaghat, Alireza, Shariati, Gholamreza, Issa, Mahmoud, Zeighami, Jawaher, Elbendary, Hasnaa M., Brown, Garry, Taylor, Robert W., Galehdari, Hamid, Gleeson, Joseph J., Carroll, Christopher J., Cowan, James A., Moreno‐De‐Luca, Andres, Houlden, Henry, Maroofian, Reza

المساهمون: Medical Research Council, The Wellcome Trust DBT India Alliance

المصدر: Annals of Clinical and Translational Neurology ; volume 9, issue 12, page 2025-2035 ; ISSN 2328-9503 2328-9503

الاتاحة: https://doi.org/10.1002/acn3.51679
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51679
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.51679

المؤلفون: Scala, Marcello, Wortmann, Saskia B., Kaya, Namik, Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, van Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka-Pronicka, Katarzyna, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Tort, Frederic, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya, Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham, Karimiani, Ehsan G., Yildiz, Yilmaz, Ceylan, Ahmet C., Santiago-Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al-Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, AlHargan, Aljouhra, Alwadei, Ali H., AlRasheed, Maha M., Colak, Dilek, Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., García Cazorla, M. Ángeles, Ribes, Antonia, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Efthymiou, Stephanie, Genomics, Queen Square, Schmitt-Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Alkuraya, Fowzan S., Zaki, Maha S., Gleeson, Joseph G., Barakat, Tahsin Stefan, Bierau, Jorgen, van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry

المصدر: Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan ....

مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الاتاحة: https://research.vu.nl/en/publications/f1895b2e-8f94-4932-a37a-30cbfce24676
https://doi.org/10.1002/humu.24326
https://hdl.handle.net/1871.1/f1895b2e-8f94-4932-a37a-30cbfce24676
http://www.scopus.com/inward/record.url?scp=85122725382&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85122725382&partnerID=8YFLogxK

المؤلفون: Ambrosino, Sara, Elbendary, Hasnaa, Lequin, Maarten, Rijkelijkhuizen, Dominique, Banaschewski, Tobias, Baron-Cohen, Simon, Bast, Nico, Baumeister, Sarah, Buitelaar, Jan, Charman, Tony, Crawley, Daisy, Dell'Acqua, Flavio, Hayward, Hannah, Holt, Rosemary, Moessnang, Carolin, Persico, Antonio M, Sacco, Roberto, San José Cáceres, Antonia, Tillmann, Julian, EU-AIMS LEAP Group, Loth, Eva, Ecker, Christine, Oranje, Bob, Murphy, Declan, Durston, Sarah

مصطلحات موضوعية: ASD, Brain structural MRI, Radiological assessment, Autism Spectrum Disorder, Brain, Corpus Callosum, Humans, Intellectual Disability, Magnetic Resonance Imaging

وصف الملف: Print-Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/340774

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/340774
https://doi.org/10.17863/CAM.88212

المؤلفون: Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Quintero-Castro, Diana Lucia, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail E., Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Natalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja Kristine, Urreizti, R, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bonnemann, Carsten, Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan

المصدر: 2041-1723.

Relation: http://urn.nb.no/URN:NBN:no-95561; Kour, Sukhleen Rajan, Deepa S. Fortuna, Tyler R. Anderson, Eric N. Ward, Caroline Lee, Youngha Lee, Sangmoon Shin, Yong Beom Chae, Jong-Hee Choi, Murim Siquier, Karine Cantagrel, Vincent Amiel, Jeanne Stolerman, Elliot S. Barnett, Sarah S. Cousin, Margot A. Quintero-Castro, Diana Lucia McDonald, Kimberly Kirmse, Brian Nemeth, Andrea H. Rajasundaram, Dhivyaa Innes, A. Micheil Lynch, Danielle Frosk, Patrick Collins, Abigail E. Gibbons, Melissa Yang, Michele Desguerre, Isabelle Boddaert, Natalie Gitiaux, Cyril Rydning, Siri Lynne Selmer, Kaja Kristine Urreizti, R Garcia-Oguiza, Alberto Osorio, Andrés Nascimento Verdura, Edgard Pujol, Aurora McCurry, Hannah R. Landers, John E. Agnihotri, Sameer Andriescu, E. Corina Moody, Shade B. Phornphutkul, Chanika Sacoto, Maria J. Guillen Begtrup, Amber Houlden, Henry Kirschner, Janbernd Schorling, David Rudnik-Schöneborn, Sabine Strom, Tim M. Leiz, Steffen Juliette, Kali Richardson, Randal Yang, Ying Zhang, Yuehua Wang, Minghui Wang, Jia Wang, Xiaodong Platzer, Konrad Donkervoort, Sandra Bonnemann, Carsten Wagner, Matias Issa, Mahmoud Y. Elbendary, Hasnaa M. Stanley, Valentina Maroofian, Reza Gleeson, Joseph G. Zaki, Maha S. Senderek, Jan Pandey, Udai Bhan . Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 2021, 12(1), 1-15; http://hdl.handle.net/10852/92987; 2003066; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Communications&rft.volume=12&rft.spage=1&rft.date=2021; Nature Communications; 12; https://doi.org/10.1038/s41467-021-22627-w; URN:NBN:no-95561; Fulltext https://www.duo.uio.no/bitstream/handle/10852/92987/1/Loss%2Bof%2Bfunction%2Bmutations%2Bin%2BGEMIN5%2Bcause%2Ba.pdf

الاتاحة: http://hdl.handle.net/10852/92987
http://urn.nb.no/URN:NBN:no-95561
https://doi.org/10.1038/s41467-021-22627-w

المؤلفون: Elkhateeb, Nour, Issa, Mahmoud Y., Elbendary, Hasnaa M., Elnaggar, Walaa, Ramadan, Areef, Rafat, Karima, Kamel, Mona, Abdel‐Ghafar, Sherif F., Amer, Fawzia, Hassaan, Hebatallah M., Trunzo, Roberta, Pereira, Catarina, Abdel‐Hamid, Mohamed S., D'Arco, Felice, Bauer, Peter, Bertoli‐Avella, Aida M., Girgis, Marian, Gleeson, Joseph G., Zaki, Maha S., Selim, Laila

المصدر: Clinical Genetics ; volume 105, issue 5, page 510-522 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14481
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14481

المؤلفون: Scala, Marcello, Mojarrad, Majid, Riazuddin, Saima, Brigatti, Karlla W, Ammous, Zineb, Cohen, Julie S, Hosny, Heba, Usmani, Muhammad A, Shahzad, Mohsin, Riazuddin, Sheikh, Stanley, Valentina, Eslahi, Atiye, Person, Richard E, Elbendary, Hasnaa M, Comi, Anne M, Poskitt, Laura, Salpietro, Vincenzo, Queen Square Genomics, Rosenfeld, Jill A, Williams, Katie B, Marafi, Dana, Xia, Fan, Biderman Waberski, Marta, Zaki, Maha S, Gleeson, Joseph, Puffenberger, Erik, Houlden, Henry, Maroofian, Reza

المصدر: 143 ; 4 ; e31 ; United States ; United Kingdom ; England

مصطلحات موضوعية: nuclear protein, RSRC1 protein, human, intellectual impairment, loss of function mutation, Genes, Recessive

Relation: Brain; http://hdl.handle.net/10713/13527

الاتاحة: http://hdl.handle.net/10713/13527
https://doi.org/10.1093/brain/awaa070

المؤلفون: Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik-Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren-Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J., Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmueller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bonnemann, Carsten G.

المصدر: Donkervoort , S , Mohassel , P , Laugwitz , L , Zaki , M S , Kamsteeg , E-J , Maroofian , R , Chao , K R , Verschuuren-Bemelmans , C C , Horber , V , Fock , A J M , McCarty , R M , Jain , M S , Biancavilla , V , McMacken , G , Nalls , M , Voermans , N C , Elbendary , H M , Snyder , M , Cai , C , Lehky , T J , Stanley , V , Iannaccone , S T , ....

مصطلحات موضوعية: congenital myasthenic syndrome, neuromuscular junction, presynaptic CMS, synaptotagmins, SYT2, NEUROTRANSMITTER RELEASE, SYNAPTOTAGMIN-I, MESSENGER-RNAS, MUTATIONS, GENE

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/07cd146d-a8e3-4f3c-9772-2e9d8d57907c

الاتاحة: https://hdl.handle.net/11370/07cd146d-a8e3-4f3c-9772-2e9d8d57907c
https://research.rug.nl/en/publications/07cd146d-a8e3-4f3c-9772-2e9d8d57907c
https://doi.org/10.1002/ajmg.a.61765
https://pure.rug.nl/ws/files/132904593/Biallelic_loss_of_function_variants_in_SYT2_cause_a_treatable_congenital_onset_presynaptic_myasthenic_syndrome.pdf

المؤلفون: Saad, Ahmed K, Marafi, Dana, Mitani, Tadahiro, Jolly, Angad, Du, Haowei, Elbendary, Hasnaa M, Jhangiani, Shalini N, Akdemir, Zeynep C, Gibbs, Richard A, Hunter, Jill V, Carvalho, Claudia M B C, Pehlivan, Davut, Posey, Jennifer E, Zaki, Maha S, Lupski, James R

المساهمون: National Human Genome Research Institute, NHGRI, National Heart Lung and Blood Institute, NHBLI, Baylor-Hopkins Center for Mendelian Genomics, BHCMG, Baylor College of Medicine Human Genome Sequencing Center, National Institute of Neurological Disorders and Stroke, NINDS, Muscular Dystrophy Association, United States National Institute of Health, Uehara Memorial Foundation, Clinical Research Training Scholarship in Neuromuscular Disease, American Academy of Neurology, American Brain Foundation, Muscle Study Group, International Rett Syndrome Foundation, United States Agency for International Development

المصدر: Brain ; volume 143, issue 10, page e83-e83 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awaa256
http://academic.oup.com/brain/article-pdf/143/10/e83/34032223/awaa256.pdf