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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...
6 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.
7 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.
4 bulan yang lalu
Arthroscopic Humeroplasty in the Treatment of Acute Reverse Hill-Sachs Lesion Associated With Posterior Shoulder Instability
Cureus
Reverse Hill-Sachs lesions (RHSL) are common complications associated with posterior shoulder dislocations and represent a significant...
3 minggu 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...
93 bulan yang lalu
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.
308 bulan yang lalu
Head, acetabular liner composition, and rate of revision and wear in total hip arthroplasty: a Bayesian network meta-analysis
Nature
Total hip arthroplasty (THA) is a common procedure for patients suffering from hip pain e.g. from osteoarthritis, osteonecrosis,...
13 bulan yang lalu
Epigenetic Alterations and Inflammation as Emerging Use for the Advancement of Treatment in Non-Small Cell Lung Cancer
Frontiers
Lung cancer remains one of the most common malignancies in the world. Nowadays, the most common lung cancer is non-small cell lung cancer (NSCLC), namely,...
11 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.
248 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...
219 bulan yang lalu