المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D, Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L, Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

المساهمون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngel, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Toma, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D, Ong, Winnie Peitee, Opladen, Thoma, Oppeboen, Mari, Pearl, Phillip L, Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

مصطلحات موضوعية: ACMG, Dopamine, Neurotransmitter disorder, Serotonin, Variant effect prediction

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37348148; info:eu-repo/semantics/altIdentifier/wos/WOS:001037197400001; volume:139; issue:3; firstpage:1; lastpage:9; numberofpages:9; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11562/1097586Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85162242618; https://doi.org/10.1016/j.ymgme.2023.107624Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107624Test
https://hdl.handle.net/11562/1097586Test

المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

المصدر: Himmelreich , N , Bertoldi , M , Alfadhel , M , Alghamdi , M A , Anikster , Y , Bao , X , Bashiri , F A , Zeev , B B , Bisello , G , Ceylan , A C , Chien , Y H , Choy , Y S , Elsea , S H , Flint , L , García-Cazorla , À , Gijavanekar , C , Gümüş , E Y , Hamad , M H , Hişmi , B , Honzik , T , Kuseyri Hübschmann , O , Hwu , W L , ....

العلاقة: https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fabTest

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107647Test
https://doi.org/10.1016/j.ymgme.2023.107624Test
https://hdl.handle.net/1983/e124cba8-b376-4981-a0d4-a4fff9a86fabTest
https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fabTest
http://www.scopus.com/inward/record.url?scp=85165039598&partnerID=8YFLogxKTest

المؤلفون: Abukhaled, Musaad, Al Muqbil, Mohammed, Alghamdi, Malak Ali, Hundallah, Khalid, Suleiman, Jehan, Ben-Omran, Tawfeg, Alfadhel, Majid, Almannai, Mohammed, Alsaleh, Rehab, Tabarki, Brahim

المصدر: European Journal of Pediatrics ; volume 182, issue 6, page 2547-2548 ; ISSN 1432-1076

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00431-023-05012-1Test

المؤلفون: Abukhaled, Musaad, Al Muqbil, Mohammed, Alghamdi, Malak Ali, Hundallah, Khalid, Suleiman, Jehan, Ben-Omran, Tawfeg, Alfadhel, Majid, Almannai, Mohammed, Alsaleh, Rehab, Tabarki, Brahim

المصدر: European Journal of Pediatrics ; volume 182, issue 6, page 2535-2545 ; ISSN 1432-1076

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00431-023-04886-5Test

المؤلفون: Faqeih, Eissa A., Alghamdi, Malak Ali, Almahroos, Marwa A., Alharby, Essa, Almuntashri, Makki, Alshangiti, Amnah M., Clément, Prouteau, Calame, Daniel G., Qebibo, Leila, Burglen, Lydie, Doco-Fenzy, Martine, Mastrangelo, Mario, Torella, Annalaura, Manti, Filippo, Nigro, Vincenzo, Alban, Ziegler, Alharbi, Ghadeer Saleh, Hashmi, Jamil Amjad, Alraddadi, Rawya, Alamri, Razan, Mitani, Tadahiro, Magalie, Barth, Coban-Akdemir, Zeynep, Geckinli, Bilgen Bilge, Pehlivan, Davut, Romito, Antonio, Karageorgou, Vasiliki, Martini, Javier, Colin, Estelle, Bonneau, Dominique, Bertoli-Avella, Aida, Lupski, James R., Pastore, Annalisa, Peake, Roy W.A., Dallol, Ashraf, Alfadhel, Majid, Almontashiri, Naif A.M.

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100323 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.10.006Test
https://api.elsevier.com/content/article/PII:S109836002200987X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109836002200987X?httpAccept=text/plainTest

المؤلفون: Alghamdi, Malak Ali, O'Donnell‐Luria, Anne, Almontashiri, Naif A., AlAali, Wajeih Y., Ali, Hebatallah H., Levy, Harvey L.

المصدر: JIMD Reports ; volume 64, issue 5, page 312-316 ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12384Test

المؤلفون: Bouasker, Samir, Patel, Nisha, Greenlees, Rebecca, Wellesley, Diana, Fares Taie, Lucas, Almontashiri, Naif, A, Baptista, Julia, Alghamdi, Malak Ali, Boissel, Sarah, Martinovic, Jelena, Prokudin, Ivan, Holden, Samantha, Mudhar, Hardeep-Singh, Riley, Lisa, G, Nassif, Christina, Attie-Bitach, Tania, Miguet, Marguerite, Delous, Marion, Ernest, Sylvain, Plaisancié, Julie, Calvas, Patrick, Rozet, Jean-Michel, Khan, Arif, O, Hamdan, Fadi, F, Jamieson, Robyn, V, Alkuraya, Fowzan, S, Michaud, Jacques, L, Chassaing, Nicolas

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-10-COHO-0003,RADICO,Cohorte nationale maladies rares(2010)

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: Human Genetics, [SDV]Life Sciences [q-bio]

العلاقة: hal-04095800; https://u-paris.hal.science/hal-04095800Test; https://u-paris.hal.science/hal-04095800/documentTest; https://u-paris.hal.science/hal-04095800/file/bi-allelic_variants.pdfTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2022-108475Test
https://u-paris.hal.science/hal-04095800Test
https://u-paris.hal.science/hal-04095800/documentTest
https://u-paris.hal.science/hal-04095800/file/bi-allelic_variants.pdfTest

المؤلفون: Faqeih, Eissa A, Alghamdi, Malak Ali, Almahroos, Marwa A, Alharby, Essa, Almuntashri, Makki, Alshangiti, Amnah M, Clément, Prouteau, Calame, Daniel G, Qebibo, Leila, Burglen, Lydie, Doco-Fenzy, Martine, Mastrangelo, Mario, Torella, Annalaura, Manti, Filippo, Nigro, Vincenzo, Alban, Ziegler, Alharbi, Ghadeer Saleh, Hashmi, Jamil Amjad, Alraddadi, Rawya, Alamri, Razan, Mitani, Tadahiro, Magalie, Barth, Coban-Akdemir, Zeynep, Geckinli, Bilgen Bilge, Pehlivan, Davut, Romito, Antonio, Karageorgou, Vasiliki, Martini, Javier, Colin, Estelle, Bonneau, Dominique, Bertoli-Avella, Aida, Lupski, James R, Pastore, Annalisa, Peake, Roy W A, Dallol, Ashraf, Alfadhel, Majid, Almontashiri, Naif A M

المساهمون: Noor Diagnostics and Discovery, Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia

مصطلحات موضوعية: Intellectual Disability, E3 Ligase, Ube3c, Neurobehavioral Differences, Hectd4

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S109836002200987XTest; Faqeih, E. A., Alghamdi, M. A., Almahroos, M. A., Alharby, E., Almuntashri, M., Alshangiti, A. M., Clément, P., Calame, D. G., Qebibo, L., Burglen, L., Doco-Fenzy, M., Mastrangelo, M., Torella, A., Manti, F., Nigro, V., Alban, Z., Alharbi, G. S., Hashmi, J. A., Alraddadi, R., … Almontashiri, N. A. M. (2022). Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Genetics in Medicine. https://doi.org/10.1016/j.gim.2022.10.006Test; Genetics in medicine : official journal of the American College of Medical Genetics; http://hdl.handle.net/10754/686006Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.10.006Test
http://hdl.handle.net/10754/686006Test

المؤلفون: Alghamdi, Malak Ali, Mulla, Jaazeel, Saheb Sharif-Askari, Narjes, Guzmán-Vega, Francisco J., Arold, Stefan T., Abd-Alwahed, Mervat, Alharbi, Nasser, Kashour, Tarek, Halwani, Rabih

المساهمون: Biological and Environmental Science and Engineering (BESE) Division, Bioscience Program, Computational Bioscience Research Center (CBRC), Structural Biology and Engineering, Department of Pediatrics, Medical Genetic Division, College of Medicine, King Saud University, Riyadh, Saudi Arabia, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia, Sharjah Institute of Medical Research, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates, College of Medicine Research Center, King Saud University, Riyadh, Saudi Arabia, Department of Pediatrics, Pulmonology Division, College of Medicine, King Saud University, Riyadh, Saudi Arabia, Cardiology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia, Department of Clinical Sciences, Sharjah Institute for Medical Research (SIMR), College of Medicine, University of Sharjah, Sharjah, United Arab Emirates

وصف الملف: application/pdf

العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2020.599564/fullTest; Alghamdi, M. A., Mulla, J., Saheb Sharif-Askari, N., Guzmán-Vega, F. J., Arold, S. T., Abd-Alwahed, M., … Halwani, R. (2021). A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings. Frontiers in Immunology, 11. doi:10.3389/fimmu.2020.599564; 2-s2.0-85099750110; Frontiers in Immunology; http://hdl.handle.net/10754/667137Test; 11

الإتاحة: https://doi.org/10.3389/fimmu.2020.599564Test
http://hdl.handle.net/10754/667137Test

المؤلفون: Bertoli-Avella, Aida, Hotakainen, Ronja, Al Shehhi, Maryam, Urzi, Alice, Pareira, Catarina, Marais, Anett, Al Shidhani, Khoula, Aloraimi, Sumaya, Morales-Torres, Galina, Fisher, Steffen, Demuth, Laura, Moteleb Selim, Laila Abdel, Al Menabawy, Nihal, Busehail, Maryam, AlShaikh, Mohammed, Gilani, Naser, Chalabi, Dler Nooruldeen, Alharbi, Nasser S, Alfadhel, Majid, Abdelrahman, Mohammed, Venselaar, Hanka, Anjum, Nadeem, Saeed, Anjum, Alghamdi, Malak Ali, Aljaedi, Hamad, Arabi, Hisham, Karageorgou, Vasiliki, Khan, Suliman, Hajjari, Zahra, Radefeldt, Mandy, Al-Ali, Ruslan, Tripolszki, Kornelia, Jamhawi, Amer, Paknia, Omid, Cozma, Claudia, Cheema, Huma, Ameziane, Najim, Al-Muhsen, Saleh, Bauer, Peter

المصدر: Journal of Medical Genetics ; volume 59, issue 10, page 993-1001 ; ISSN 0022-2593 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-108150Test