المؤلفون: Ullah, Ehsan, Naik, Amelia, Bender, Chelsea, Blain, Delphine, Huryn, Laryssa, Hufnagel, Robert, Guan, Bin

المصدر: Genetics in Medicine Open ; volume 2, page 101562 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101562
https://api.elsevier.com/content/article/PII:S2949774424007088?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424007088?httpAccept=text/plain

المؤلفون: Guan, Bin, Naik, Amelia, Ullah, Ehsan, McGaughey, David, Agather, Aime, Brooks, Brian, Hufnagel, Robert

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100522 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100522
https://api.elsevier.com/content/article/PII:S2949774423005228?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423005228?httpAccept=text/plain

المؤلفون: Ullah, Ehsan, Guan, Bin, Naik, Amelia, Bender, Chelsea, Al Rawi, Ranya, Blain, Delphine, Agather, Aime, Huryn, Laryssa, Zein, Wadih, Cukras, Catherine, Brooks, Brian, Hufnagel, Robert

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100364 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100364
https://api.elsevier.com/content/article/PII:S2949774423003643?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423003643?httpAccept=text/plain

المؤلفون: Aguilera, Nancy, Liu, Tao, Bower, Andrew J., Li, Joanne, Abouassali, Sarah, Lu, Rongwen, Giannini, John, Pfau, Maximilian, Bender, Chelsea, Smelkinson, Margery G., Naik, Amelia, Guan, Bin, Schwartz, Owen, Volkov, Andrei, Dubra, Alfredo, Liu, Zhuolin, Hammer, Daniel X., Maric, Dragan, Fariss, Robert, Hufnagel, Robert B., Jeffrey, Brett G., Brooks, Brian P., Zein, Wadih M., Huryn, Laryssa A., Tam, Johnny

المصدر: Communications Biology ; volume 5, issue 1 ; ISSN 2399-3642

الاتاحة: http://dx.doi.org/10.1038/s42003-022-03842-7
https://www.nature.com/articles/s42003-022-03842-7.pdf
https://www.nature.com/articles/s42003-022-03842-7

المؤلفون: Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A, Sergeev, Yuri V, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J, Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros

المصدر: Brain: A Journal of Neurology; Jun2024, Vol. 147 Issue 6, p2085-2097, 13p

مصطلحات موضوعية: PHENOTYPES, GAIT disorders, NEUROPATHY, DISEASE complications, MISSENSE mutation, HYPOPITUITARISM

المؤلفون: Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A., Sergeev, Yuri, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J., Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H., Taylor, John, Downes, Susan, Krawczynski, Maciej, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A., Moore, Anthony T., Duncan, Jacque L., Menendez, Beatriz, Hull, Sarah, Vincent, Andrea, Siskind, Carly E., Traboulsi, Elias I., Blackstone, Craig, Sisk, Robert, Utz, Virginia, Webster, Andrew R., Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, Hufnagel, Robert B

المصدر: bioRxiv

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5d8d44dde0f9016578599fd9e69864b3
https://europepmc.org/articles/PMC10274907/

المؤلفون: Faridi, Rabia, Yousaf, Rizwan, Gu, Shoujun, Inagaki, Sayaka, Turriff, Amy E., Pelstring, Keith, Guan, Bin, Naik, Amelia, Griffith, Andrew J., Adadey, Samuel Mawuli, Aboagye, Elvis Twumasi, Awandare, Gordon A., Morell, Robert J., Tsilou, Ekaterini, Noyes, Amanda G., Sulmonte, Laura A. G., Wonkam, Ambroise, Schrauwen, Isabelle, Leal, Suzanne M., Azaiez, Hela, Brewer, Carmen C., Riazuddin, Sheikh, Hufnagel, Robert B., Hoa, Michael, Zein, Wadih M., de Dios, J. Karl, Friedman, Thomas B.

المساهمون: African Academy of Sciences, National Human Genome Research Institute, National Institute on Deafness and Other Communication Disorders, Wellcome Trust

المصدر: Clinical Genetics ; volume 103, issue 6, page 699-703 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14312
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14312
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.14312

المؤلفون: Goetz, Kerry E., Reeves, Melissa J., Gagadam, Shaina, Blain, Delphine, Bender, Chelsea, Lwin, Cara, Naik, Amelia, Tumminia, Santa J., Hufnagel, Robert B.

المساهمون: National Eye Institute

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 184, issue 3, page 828-837 ; ISSN 1552-4868 1552-4876

الاتاحة: http://dx.doi.org/10.1002/ajmg.c.31843
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.c.31843
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31843
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.c.31843