Хайлтын үр дүнгүүд - Ferdous Abdulwahab
- 3-н 1 - 3 үр дүнгүүдийг харуулж байна
-
1
Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency -н Mohammed F. Alosaimi, Manfred Hoenig, Faris Jaber, Craig D. Platt, Jennifer Jones, Jacqueline G. Wallace, Klaus‐Michael Debatin, Ansgar Schulz, E. Jacobsen, Peter M√oller, Hanan E. Shamseldin, Ferdous Abdulwahab, Niema Ibrahim, Hosam Alardati, Faisal ALMuhizi, Ibraheem Abosoudah, Talal A. Basha, Janet Chou, Fowzan S. Alkuraya, Raif S. Geha
Хэвлэсэн 2019Artigo -
2
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder -н Martin Broly, Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard, Wallid Deb, Declan O’Rourke, Júlia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan E. Shamseldin, Saeed M Al-Tala, Fowzan S. Alkuraya, A. S. Leon, Rosa Laura E. van Loon, Alessandra Ferlini, Mariabeatrice Sanchini, Stefania Bigoni, Andrea Ciorba, Hans van Bokhoven, Zafar Iqbal, Almundher Al‐Maawali, Fathiya Al-Murshedi, Anuradha Ganesh, Watfa Al‐Mamari, Sze Chern Lim, Lynn Pais, Natasha J. Brown, Saima Riazuddin, Stéphane Bézieau, Dragony Fu, Bertrand Isidor, Benjamin Cogné, Mitchell R. O’Connell
Хэвлэсэн 2022Artigo -
3
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals -н Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gülsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yılmaz, Seda Kanmaz, Hepsen Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhaş, Tamison Jewett, Rachel Goldberg, Hanan E. Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gözde Yeşil, Esma Şengenç, Serhat Güler, Mariam Hull, Mered Parnes, Dilek Aktaş, Banu Anlar, Yavuz Bayram, Davut Pehli̇van, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama AlAbdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André EX Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto
Хэвлэсэн 2022Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Allele
Biology
Gene
Genetics
Medicine
Missense mutation
Phenotype
Acetylation
Disease
Dystonia
Endocrinology
Exome sequencing
Genotype
Human immunodeficiency virus (HIV)
Immune system
Immunodeficiency
Immunology
Intellectual disability
Internal medicine
Loss function
Messenger RNA
Monoamine neurotransmitter
Psychiatry
RNA
Receptor
Serotonin
Transfer RNA
Translation (biology)
Virology