Kết quả tìm kiếm - Jesus Olvera
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1
Exome Sequencing Can Improve Diagnosis and Alter Patient Management Bằng Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E. Schaffer, Jesus Olvera, Vineet Bafna, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Lobna Mansour, Laila Selim, Sawsan Abdel-Hadi, Naïma Marzouki, Tawfeg Ben‐Omran, Nouriya A. Al-Saana, F.M. Sonmez, Figen Celep, Matloob Azam, Kiley J. Hill, Adrienne Collazo, Ali G. Fenstermaker, Gaia Novarino, Naiara Akizu, Kiran Garimella, Carrie Sougnez, Carsten Russ, Stacey Gabriel, Joseph G. Gleeson
Được phát hành 2012Artigo -
2
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium Bằng Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, Jana Schroth, Stephanie Bielas, Sarah Marsh, Jesus Olvera, Francesco Brancati, Miriam Iannicelli, Koji Ikegami, Andrew M Schlossman, Barry Merriman, Tania Attié‐Bitach, Clare V. Logan, Ian Glass, Andrew Cluckey, Carrie M Louie, Jeong Ho Lee, Hilary R Raynes, Isabelle Rapin, Ignacio P Castroviejo, Mitsutoshi Setou, Clara Barbot, Eugen Boltshauser, Stanley F. Nelson, Friedhelm Hildebrandt, Colin A. Johnson, Daniel Doherty, Enza Maria Valente, Joseph G. Gleeson
Được phát hành 2012Artigo
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Các môn học liên quan
Biology
Gene
Genetics
Axoneme
Basal body
Bioinformatics
Bronchiectasis
Cell biology
Ciliogenesis
Ciliopathies
Ciliopathy
Cilium
Cohort
DNA sequencing
Disease
Exome
Exome sequencing
Flagellum
Intellectual disability
Intraflagellar transport
Joubert syndrome
Linguistics
Lung
Medicine
Microcephaly
Microtubule
Motile cilium
Mutant
Mutation
Nephronophthisis