Resultados de procura - Nejat Mahdieh
- Mostrando 1 - 6 Resultados de 6
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The promise of whole-exome sequencing in medical genetics por Bahareh Rabbani, Mustafa Tekin, Nejat Mahdieh
Publicado 2013Revisão -
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Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss por Oscar Diaz‐Horta, Duygu Duman, Joseph Foster, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menéndez, Rick H. Ulloa, Yvonne J. K. Edwards, Stephan Züchner, Susan H. Blanton, Mustafa Tekin
Publicado 2012Artigo -
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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss por Güney Bademci, Filiz Başak Cengiz, Joseph Foster, Duygu Duman, Levent Sennaroğlu, Oscar Diaz‐Horta, Tahir Atık, Tayfun Kirazlı, Levent Olgun, Hüdaver Alper, Ibis Menéndez, İlayda LOÇLAR KARAALP, Gonca Sennaroğlu, Suna Tokgöz-Yılmaz, Shengru Guo, Yüksel Olgun, Nejat Mahdieh, Mortaza Bonyadi, Nazım Bozan, Abdurrahman Ayral, Ferda Özkınay, Muzeyyen Yildirim‐Baylan, Susan H. Blanton, Mustafa Tekin
Publicado 2016Artigo -
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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort por Güney Bademci, Joseph Foster, Nejat Mahdieh, Mortaza Bonyadi, Duygu Duman, Filiz Başak Cengiz, Ibis Menéndez, Oscar Diaz‐Horta, Atefeh Shirkavand, Sirous Zeinali, Aslı Subaşıoğlu, Suna Tokgöz-Yılmaz, Fabiola Huesca-Hernández, María de la Luz Arenas‐Sordo, Juan Domínguez-Aburto, Edgar Hernández‐Zamora, Paola Montenegro, Rosario Paredes, Germania Moreta, Rodrigo Vinueza, Franklin Villegas, Santiago Mendoza-Benitez, Shengru Guo, Nazım Bozan, Tülay Tos, Armağan İncesulu, Gonca Sennaroğlu, Susan H. Blanton, Hatice Akay, Muzeyyen Yildirim‐Baylan, Mustafa Tekin
Publicado 2015Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Gene
Genetics
Mutation
Exome sequencing
Exome
Medicine
Audiology
Hearing loss
Computational biology
DNA sequencing
Genetic heterogeneity
Mendelian inheritance
Phenotype
Candidate gene
Cohort
Compound heterozygosity
Environmental health
Etiology
Evolutionary biology
Exon
Genetic testing
Genome
Genomics
Human genetics
KRAS
Locus (genetics)
Medical genetics
Microphthalmia-associated transcription factor
PTPN11