Výsledky vyhledávání - Shinu Ansari
- Zobrazuji výsledky 1 - 4 z 4
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Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes Autor Ranad Shaheen, Eissa Faqeih, Muneera J. Alshammari, Abdulrahman Swaid, Lihadh Al‐Gazali, Elham Al Mardawi, Shinu Ansari, Sameera Sogaty, Mohammed Zain Seidahmed, Muhammed Al-Motairi, Chantal Farra, Wesam Kurdi, Shatha Alrasheed, Fowzan S. Alkuraya
Vydáno 2012Artigo -
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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome Autor Ranad Shaheen, Mona Aglan, Kim M. Keppler‐Noreuil, Eissa Faqeih, Shinu Ansari, Kim Horton, Adel M. Ashour, Maha S. Zaki, Fatema Alzahrani, Anna M. Cueto‐González, Ghada M. H. Abdel‐Salam, Samia A. Temtamy, Fowzan S. Alkuraya
Vydáno 2013Artigo -
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Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans Autor Ranad Shaheen, Hanan E. Shamseldin, Catrina M. Loucks, Mohammed Zain Seidahmed, Shinu Ansari, M. I. Khalil, Nadya Al‐Yacoub, Erica E. Davis, Natalie Mola, Katarzyna Szymańska, Warren Herridge, Albert E. Chudley, Bernard N. Chodirker, Jeremy Schwartzentruber, Jacek Majewski, Nicholas Katsanis, Coralie Poizat, Colin A. Johnson, Jillian S. Parboosingh, Kym M. Boycott, A. Micheil Innes, Fowzan S. Alkuraya
Vydáno 2013Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Mutation
Phenotype
Ciliopathy
Exome
Exome sequencing
Genetic heterogeneity
Allelic heterogeneity
Alternative splicing
Candidate gene
Ciliogenesis
Cilium
Computational biology
Consanguinity
Disease gene identification
Dwarfism
Environmental health
Exon
Frameshift mutation
Locus (genetics)
Medicine
Missense mutation
Population
Splice site mutation