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: Kruszka, Paul., Porras, Antonio R., De Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T.K., Tekendo-Ngongang, Cedrik, Fieggen, Karen, Prijoles, E.J., Tanpaiboon, Pranoot, Honey, Engela M., El Ruby, Mona O., Ho-Ming, Luk, Lo, Ivan F.M., Thong, Meow-Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H.W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., De Herreros, María Beatriz, Lee, Ni-Chung, Jamuar, Saumya S., Lai, Angeline, Shien, Tan Ee, Lim, Jiin Ying, Wen-Min, Cham Breana, Gupta, Neerja, Lotz-Esquivel, Stephanie, Badilla-Porras, Ramsés, Hussen, Dalia Farouk, Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A.Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H.Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barrig, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., Stevenson, Roger E., Summar, Marshall, Adeyemo, Adeyemo A., Morris, Colleen A., Moretti-Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian

مصطلحات موضوعية: Williams–Beuren syndrome (WBS), Syndrome, Middle East, Latin America, Facial analysis technology, Diverse populations, Asia, Africa

وصف الملف: application/pdf

العلاقة: Kruszka P, Porras AR, de Souza DH, et al. Williams–Beuren syndrome in diverse populations. American Journal of Medical Genetics, Part A. 2018;176A:1128–1136. https://doi.org/10.1002/ajmg.a.38672Test.; 1552-4825 (print); 1552-4833 (online); http://hdl.handle.net/2263/64960Test

الإتاحة: https://doi.org/10.1002/ajmg.a.38672Test
http://hdl.handle.net/2263/64960Test