相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
Ian M. Campbell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
A Diverse Array of Cancer-Associated MTOR Mutations Are Hyperactivating and Can Predict Rapamycin Sensitivity
Brian C. Grabiner et al.
CANCER DISCOVERY (2014)
Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP
Ghayda M. Mirzaa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2013)
The Facial Evolution: Looking Backward and Moving Forward
Gareth Baynam et al.
HUMAN MUTATION (2013)
Coordinate activation of Shh and PI3K signaling in PTEN-deficient glioblastoma: new therapeutic opportunities
Mariella Gruber Filbin et al.
NATURE MEDICINE (2013)
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations
Gianina Ravenscroft et al.
NEUROMUSCULAR DISORDERS (2013)
Objective Monitoring of mTOR Inhibitor Therapy by Three-Dimensional Facial Analysis
Gareth S. Baynam et al.
TWIN RESEARCH AND HUMAN GENETICS (2013)
Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
Anne Goriely et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
mTOR Inhibitors in Tuberous Sclerosis Complex
Paolo Curatolo et al.
Current Neuropharmacology (2012)
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Jeong Ho Lee et al.
NATURE GENETICS (2012)
Activation and Function of the MAPKs and Their Substrates, the MAPK-Activated Protein Kinases
Marie Cargnello et al.
MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS (2011)
Ciliopathies: an expanding disease spectrum
Aoife M. Waters et al.
PEDIATRIC NEPHROLOGY (2011)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Focal brain malformations: Seizures, signaling, sequencing
Peter B. Crino
EPILEPSIA (2009)
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
Bartlomiej Budny et al.
HUMAN GENETICS (2006)
Growing roles for the mTOR pathway
DD Sarbassov et al.
CURRENT OPINION IN CELL BIOLOGY (2005)
分享论文
