תוצאות חיפוש - G. Shashidhar Pai
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X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene מאת S. W. Knight, Nina S. Heiss, T. Vulliamy, S. Greschner, George Stavrides, G. Shashidhar Pai, G.G. Lestringant, Neelam Varma, Philip J. Mason, Inderjeet Dokal, Annemarie Poustka
יצא לאור 1999Artigo -
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants מאת Caroline Neuray, Reza Maroofian, Marcello Scala, Tipu Sultan, G. Shashidhar Pai, Majid Mojarrad, Heba El Khashab, Leigh deHoll, Wyatt W. Yue, Hessa S. Alsaif, M. Natalia Zanetti, Oscar D. Bello, Richard Person, Atieh Eslahi, Zaynab Khazaei, Masoumeh Heidari Feizabadi, Stéphanie Efthymiou, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Hala T. El‐Bassyouni, Doaa Soliman, S. Tekeş, Leyla Özer, Volkan Baltacı, Suliman Khan, Christian Beetz, Khalda Amr, Vincenzo Salpietro, Yalda Jamshidi, Fowzan S. Alkuraya, Henry Houlden
יצא לאור 2020Artigo
כלי חיפוש:
נושאים קשורים
Biology
Genetics
Gene
Molecular biology
Autosome
Biochemistry
Bone marrow failure
Central nervous system
Chromosomal translocation
Chromosome
Dyskeratosis congenita
Endocrinology
Enzyme
Epilepsy
Exon
GABAergic
Glutamate decarboxylase
Glutamate receptor
Haematopoiesis
Hypoxanthine Phosphoribosyltransferase
Hypoxanthine-guanine phosphoribosyltransferase
Inhibitory postsynaptic potential
Internal medicine
Karyotype
Locus (genetics)
Medicine
Missense mutation
Mutant
Mutation
Neuroscience