期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2021; 187 (2)
Dwarfism has been depicted in various Chinese art forms including literature, sculpture, and painting. This article examines several representative Ch......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2020; 184 (3)
Variants in thePROM1gene are associated with cone (-rod) dystrophy, macular dystrophy, and other phenotypes. We describe the clinical and genetic char......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2020; 184 (3)
Stargardt disease 1 (STGD1) is the most prevalent retinal dystrophy caused by pathogenic biallelicABCA4variants. Forty-two unrelated patients mostly o......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2020; 184 (3)
The retinitis pigmentosa 2 (RP2) gene is one of the causative genes for X-linked inherited retinal disorder. We characterized the clinical/genetic fea......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019; 181 (2)
Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with extreme clinical heterogeneity and significant differences between populatio......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019; 181 (2)
RASopathies are a group of genetic disorders due to dysregulation of the RAS-MAPK signaling pathway, which is important in regulating cell growth, pro......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019; 181 (2)
Chromosomal microarray (CMA) is recommended as a first tier investigation for patients with developmental delay (DD), intellectual disability (ID), au......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019; 181 (2)
In this article, we problematize the concept of "culture" in genetic counseling. With globalization and increased mobility of both genetic professiona......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019; 181 (2)
The status of training in clinical genetics and genetic counseling in Asia is at diverse stages of development and maturity. Most of the training prog......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019; 181 (2)
The rapid development of genetic and genomic technologies has greatly boosted medical genetic researches and clinical services worldwide. Since last c......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019; 181 (2)
This Special Issue on Clinical Genetics in Asia highlights a collection of articles showing the growth, development, and current status of clinical ge......
