Хайлтын үр дүнгүүд - Adrienne Collazo
- 2-н 1 - 2 үр дүнгүүдийг харуулж байна
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1
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly -н Jeong Ho Lee, My N. Huynh, Jennifer L. Silhavy, Sangwoo Kim, Tracy Dixon‐Salazar, Andrew Heiberg, Eric Scott, Vineet Bafna, Kiley J. Hill, Adrienne Collazo, Vincent Funari, Carsten Russ, Stacey B. Gabriel, Gary W. Mathern, Joseph G. Gleeson
Хэвлэсэн 2012Artigo -
2
Exome Sequencing Can Improve Diagnosis and Alter Patient Management -н 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
Хэвлэсэн 2012Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Exome sequencing
Gene
Genetics
Mutation
Bioinformatics
Cancer research
Cohort
Cortical dysplasia
DNA sequencing
Disease
Epilepsy
Exome
Germline mutation
Hemimegalencephaly
Intellectual disability
Medicine
Megalencephaly
Microcephaly
Neuroscience
PI3K/AKT/mTOR pathway
Pathology
Pediatrics
Proband
Psychiatry
Signal transduction
Somatic cell