Resultados de procura - Murat Günel
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Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. por Murat Günel, Issam A. Awad, John A. Anson, R P Lifton
Publicado 1995Artigo -
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The AHNAKs are a class of giant propeller-like proteins that associate with calcium channel proteins of cardiomyocytes and other cells por Akihiko Komuro, Yutaka Masuda, Koichi S. Kobayashi, Roger W. Babbitt, Murat Günel, Richard A. Flavell, Vincent T. Marchesi
Publicado 2004Artigo -
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Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion por Onur Emre Onat, Süleyman Gülsüner, Kaya Bilgüvar, A. Nazlı Başak, Haluk Topaloğlu, Meli̇ha Tan, Üner Tan, Murat Günel, Tayfun Özçelık
Publicado 2012Artigo -
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Augmentor α and β (FAM150) are ligands of the receptor tyrosine kinases ALK and LTK: Hierarchy and specificity of ligand–receptor interactions por Andrey V. Reshetnyak, Phillip B. Murray, Xiarong Shi, Elizabeth S. Mo, Jyotidarsini Mohanty, Francisco Tomé, Hanwen Bai, Murat Günel, Irit Lax, Joseph Schlessinger
Publicado 2015Artigo -
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Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension por Sílvia Vilarinho, Sinan Sarı, Güldal Yılmaz, Amy L. Stiegler, Titus J. Boggon, Dhanpat Jain, Gülen Akyol, Buket Dalgıç, Murat Günel, Richard P. Lifton
Publicado 2016Artigo -
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<i>ACOX2</i> deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment por Sílvia Vilarinho, Sinan Sarı, Francesca Mazzacuva, Kaya Bilgüvar, Güldal Esendağlı‐Yılmaz, Dhanpat Jain, Gülen Akyol, Buket Dalgıç, Murat Günel, Peter T. Clayton, Richard P. Lifton
Publicado 2016Artigo -
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Functional differences between PD-1+ and PD-1- CD4+ effector T cells in healthy donors and patients with glioblastoma multiforme por Brittany A. Goods, Amanda Hernandez, Daniel E. Lowther, Liliana E. Lucca, Benjamin A. Lerner, Murat Günel, Khadir Raddassi, Vlad Coric, David A. Hafler, J. Christopher Love
Publicado 2017Artigo -
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The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions por Michael J. Bamshad, Jay Shendure, David Valle, Ada Hamosh, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, Richard P. Lifton, Mark Gerstein, Murat Günel, Shrikant Mane, Deborah A. Nickerson
Publicado 2012Artigo -
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Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly por Paraskevi Sgourdou, Ketu Mishra-Gorur, Ichiko Saotome, Octavian Henagariu, Beyhan Tüysüz, Cynthia Campos, Keiko Ishigame, Κρινιώ Γιαννίκου, Jennifer L. Quon, Nenad Šestan, Ahmet Okay Çağlayan, Murat Günel, Angeliki Louvi
Publicado 2017Artigo -
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Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations por Sílvia Vilarinho, E. Zeynep Erson‐Omay, Akdes Serin Harmancı, Raffaella Morotti, Geneive Carrión-Grant, Jacob F. Baranoski, A. S. Knisely, Udeme D. Ekong, Sukru Emre, Katsuhito Yasuno, Kaya Bilgüvar, Murat Günel
Publicado 2014Artigo -
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A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans por Murat Günel, Issam A. Awad, Karin E. Finberg, John A. Anson, Gary K. Steinberg, H. Hunt Batjer, Thomas A. Kopitnik, Leslie Morrison, Steven L. Giannotta, Carol Nelson‐Williams, Richard P. Lifton
Publicado 1996Artigo
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Biology
Genetics
Gene
Medicine
Mutation
Neuroscience
Internal medicine
Cell biology
Phenotype
Exome sequencing
Pathology
Cancer research
Disease
Exome
Biochemistry
Immunology
Missense mutation
Psychiatry
Microcephaly
Autism
Bioinformatics
Genotype
Locus (genetics)
Mutant
Receptor
Signal transduction
Allele
Anatomy
Cell
Endocrinology