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。Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
Felix Kunz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch et al.
NUCLEIC ACIDS RESEARCH (2019)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Ender Karaca et al.
NEURON (2015)
Fraser Syndrome Due to Mutations in GRIP1-Clinical Phenotype in Two Families and Expansion of the Mutation Spectrum
Denny Schanze et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Mild Recessive Mutations in Six Fraser Syndrome-Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract
Stefan Kohl et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Mutations in GRIP1 cause Fraser syndrome
Maartje J. Vogel et al.
JOURNAL OF MEDICAL GENETICS (2012)
Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria
Mieke M. Van Haelst et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Prenatal death in Fraser syndrome
JM Comstock et al.
FETAL AND PEDIATRIC PATHOLOGY (2005)
分享论文
