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。Neurodevelopmental Outcomes of Children Born to Opioid-Dependent Mothers: A Systematic Review and Meta-Analysis
Samantha J. Lee et al.
ACADEMIC PEDIATRICS (2020)
A structural variation reference for medical and population genetics
Ryan L. Collins et al.
NATURE (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry
Lia Crotti et al.
EUROPEAN HEART JOURNAL (2019)
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane
Jeremy M. Baskin et al.
NATURE CELL BIOLOGY (2016)
High-throughput discovery of novel developmental phenotypes
Mary E. Dickinson et al.
NATURE (2016)
Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay
Olivia J. Veatch et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2015)
A framework for the interpretation of de novo mutation in human disease
Kaitlin E. Samocha et al.
NATURE GENETICS (2014)
dbVar and DGVa: public archives for genomic structural variation
Ilkka Lappalainen et al.
NUCLEIC ACIDS RESEARCH (2013)
PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity
Fubito Nakatsu et al.
JOURNAL OF CELL BIOLOGY (2012)
MSK1 Regulates Homeostatic and Experience-Dependent Synaptic Plasticity
Sonia A. L. Correa et al.
JOURNAL OF NEUROSCIENCE (2012)
Mitogen- and stress-activated protein kinase 1-induced neuroprotection in Huntington's disease: role on chromatin remodeling at the PGC-1-alpha promoter
Elodie Martin et al.
HUMAN MOLECULAR GENETICS (2011)
Characterising and Predicting Haploinsufficiency in the Human Genome
Ni Huang et al.
PLOS GENETICS (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects
Gurdeep S. Sagoo et al.
GENETICS IN MEDICINE (2009)
Gene profiling of patients with chronic fatigue syndrome/myalgic encephalomyelitis
Jonathan R. Kerr
Current Rheumatology Reports (2009)
Depletion of 26S proteasomes in mouse brain neurons causes neurodegeneration and Lewy-like inclusions resembling human pale bodies
Lynn Bedford et al.
JOURNAL OF NEUROSCIENCE (2008)
Seven genomic subtypes of chronic fatigue syndrome/myalgic encephalomyelitis: a detailed analysis of gene networks and clinical phenotypes
J. R. Kerr et al.
JOURNAL OF CLINICAL PATHOLOGY (2008)
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
Charles Lee et al.
NATURE GENETICS (2007)
Melatonin modulates rat myotube-acetylcholine receptors by inhibiting calmodulin
LD de Almeida-Paula et al.
EUROPEAN JOURNAL OF PHARMACOLOGY (2005)
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1
SF El-Khamisy et al.
NATURE (2005)
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
H Takashima et al.
NATURE GENETICS (2002)
MSK1 and MSK2 are required for the mitogen-and stress-induced phosphorylation of CREB and ATF1 in fibroblasts
GR Wiggin et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
分享论文
