Google
×
SemuaImagesVideoNews Maps Shopping Books
Alat carian
Arkib
  • Baru-baru ini
  • Jam yang lalu
  • 24 jam yang lalu
  • Minggu yang lalu
  • Bulan lalu
  • Tahun yang lalu
  • Arkib
Diisih mengikut kaitan
Padam bersih

A Heterozygous Frameshift Mutation in the Endothelin-3 EDN-3 ) Gene in Isolated Hirschsprung's Disease

Nature
Hirschsprung's disease, affecting one in 5000 live newborns, is the most common cause of neonatal intestinal obstruction.
307 bulan yang lalu

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications

Frontiers
Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal obstruction. It is a rare congenital disease with an incidence of one in...
5 bulan yang lalu

Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan

Nature
Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a relatively common disorder characterized by the absence of...
236 bulan yang lalu

Genetics and Early Disturbances of Breathing Control: The Genetics of Childhood Disease and Development: A Series of Review Articles

Nature
This mini-review summarizes the main clinical features and genetic factors in CCHS and describes the respiratory phenotypes of newborn mice.
247 bulan yang lalu

Towards defining the lymphoma methylome - Leukemia

Nature
Recent genome-wide studies of gene expression and chromosomal aberrations in lymphoid malignancies have significantly extended our...
218 bulan yang lalu

Five novel cis-regulatory deletions of SOX10 cause Waardenburg syndrome type II

Frontiers
IntroductionWaardenburg syndrome (WS) is a genetic disorder characterized by hearing loss, hypopigmentation, and distinct facial features.
5 bulan yang lalu

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2

Nature
Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural...
92 bulan yang lalu

Review of processing and analysis methods for DNA methylation array data

Nature
The promise of epigenome-wide association studies and cancer-specific somatic DNA methylation changes in improving our understanding of...
135 bulan yang lalu

Intermediate Cells of Dual Embryonic Origin Follow a Basal to Apical Gradient of Ingression Into the Lateral Wall of the Cochlea

Frontiers
Intermediate cells of the stria vascularis are neural crest derived melanocytes. They are essential for the establishment of the endocochlear potential in...
5 bulan yang lalu

Epidemiology and genetic characterization of human parainfluenza virus-1 infection in pediatric patients from Hangzhou China, 2021–2022

Virology Journal
Human parainfluenza virus-1 (HPIV-1) is a notable pathogen instigating acute respiratory tract infections in children.
3 bulan yang lalu