标题
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome
作者
关键词
Carpenter syndrome 1, Acrocephalopolysyndactyly, RAB23, WES
出版物
European Journal of Medical Genetics
Volume 65, Issue 1, Pages 104377
出版商
Elsevier BV
发表日期
2021-11-06
DOI
10.1016/j.ejmg.2021.104377
参考文献
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。- Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk
- (2019) Santosh Kumar et al. Journal of Neurodevelopmental Disorders
- Co-Occurrence of Autism Spectrum Disorder and Achondroplasia
- (2019) Angel Belle Cheng Dy et al. Frontiers in Psychiatry
- Planar Cell Polarity Effector Proteins Inturned and Fuzzy Form a Rab23 GEF Complex
- (2019) Andreas Gerondopoulos et al. CURRENT BIOLOGY
- Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning
- (2019) Arun Prasad Pandurangan et al. PROTEIN SCIENCE
- The Significance of Halogen Bonding in Ligand–Receptor Interactions: The Lesson Learned from Molecular Dynamic Simulations of the D4 Receptor
- (2019) Rafał Kurczab et al. MOLECULES
- DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability
- (2018) Carlos HM Rodrigues et al. NUCLEIC ACIDS RESEARCH
- VarSome: the human genomic variant search engine
- (2018) Christos Kopanos et al. BIOINFORMATICS
- Targeting sonic hedgehog signaling in neurological disorders
- (2017) Sita Sharan Patel et al. NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases
- (2017) Andrey Trulioff et al. Genes
- Relationships between hydrogen bonds and halogen bonds in biological systems
- (2017) Rhianon K. Rowe et al. Acta Crystallographica Section B-Structural Science Crystal Engineering and Materials
- Autism Spectrum Disorders and Schizophrenia Spectrum Disorders: Excitation/Inhibition Imbalance and Developmental Trajectories
- (2017) Roberto Canitano et al. Frontiers in Psychiatry
- Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly
- (2014) Anna S. Victorine et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Prenatal findings in carpenter syndrome and a novel mutation inRAB23
- (2014) Damien Haye et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization
- (2012) Stephen R.F. Twigg et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay
- (2011) Dagan Jenkins et al. HUMAN MUTATION
- RAB23mutation in a large family from Comoros Islands with Carpenter syndrome
- (2010) Jean-Luc Alessandri et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination
- (2010) S. Balci et al. CLINICAL GENETICS
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