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。Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis
Tugba Sarac Sivrikoz et al.
PRENATAL DIAGNOSIS (2022)
Nosology and classification of genetic skeletal disorders: 2019 revision
Geert R. Mortier et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
Experience of a Skeletal Dysplasia Registry in Turkey: A Five-Years Retrospective Analysis
Eda Didem Kurt-Sukur et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases
E. Barkova et al.
CLINICAL GENETICS (2015)
Diagnosis of Fetal Osteogenesis imperfecta by Multidisciplinary Assessment: A Retrospective Study of 10 Cases
Qichang Wu et al.
FETAL AND PEDIATRIC PATHOLOGY (2015)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Clinical epidemiology of skeletal dysplasias in South America
Cecilia O. Barbosa-Buck et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Analysis of skeletal dysplasias in the Utah population
David A. Stevenson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Consanguinity, human evolution, and complex diseases
A. H. Bittles et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
T. Furuichi et al.
JOURNAL OF MEDICAL GENETICS (2009)
Prenatal sonographic diagnosis of skeletal dysplasias
T. Schramm et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2009)
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis
Deborah Krakow et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Nosology and classification of genetic skeletal disorders: 2006 revision
Andrea Superti-Furga et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population
LI Al-Gazali et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2003)
Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases
B Doray et al.
ANNALES DE GENETIQUE (2000)
分享论文
