过去一年中添加的文章，按日期排序
Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant
YH Chen, WC Lin, CF Hwang… - Annals of Otology …, 2024 - journals.sagepub.com
11 天前 - … This report highlights the significance of genetic testing and … a review of the English
literature exploring the relationship between congenital hearing loss, inner ear deformities, …
literature exploring the relationship between congenital hearing loss, inner ear deformities, …
Challenges and current research status of vertigo/vestibular diseases, volume II
A Castellucci, D Zhang, W Li, H Axer… - 2024 - books.google.com
20 天前 - … The Frontiers journal series is a multi-tier and interdisciplinary set of openaccess,
online journals, promising a paradigm shift from the current review, selection and …
online journals, promising a paradigm shift from the current review, selection and …
[HTML][HTML] Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review
SM Kankipati, A Mahalingam, A Reshie, F Fayaz… - Cureus, 2024 - ncbi.nlm.nih.gov
48 天前 - … Waardenburg syndrome is a group of rare congenital genetic syndromes. It was
first … genes. However, family history has exhibited pertinence in this case series as genetic …
first … genes. However, family history has exhibited pertinence in this case series as genetic …
CT Scan Data Analysis in Malformations of Cortical Development
M Scala, M Severino - Cerebral Cortex Development: Methods and …, 2024 - Springer
68 天前 - … between acquired and genetic MCDs or in the identification of different genetic
patterns. … and middle ear malformations, and vertebral anomalies. In this chapter, we review the …
patterns. … and middle ear malformations, and vertebral anomalies. In this chapter, we review the …
[PDF][PDF] Williams Syndrome
CureScience Institute - Disease Review, 2024 - diseasereview.scholasticahq.com
70 天前 - … genetic disorder leading to neurodevelopmental disorders and cardiovascular
anomalies. The genetic defect comprises deletions as genetic … congenital cardiological defects in …
anomalies. The genetic defect comprises deletions as genetic … congenital cardiological defects in …
Identification of a novel phenotype of external ear deformity related to Coffin–Siris syndrome‐9 and literature review
R Wu, W Tang, P Li, Z Meng, X Li… - … of Medical Genetics Part …, 2024 - Wiley Online Library
76 天前 - … In summary, this is the first report of CSS with external ear malformation caused by
… the development of the inner ear but also critical for the morphogenesis of the external ear. In …
… the development of the inner ear but also critical for the morphogenesis of the external ear. In …
Molecular mechanisms of sensorineural hearing loss and hearing protection
SM Vlajkovic, AC Vélez-Ortega… - Frontiers in Molecular …, 2024 - frontiersin.org
97 天前 - … SNHL arises from congenital and acquired causes, such … Each year, more people
are identified as having a genetic … present three original and three review articles that add to …
are identified as having a genetic … present three original and three review articles that add to …
Research progress on incomplete partition type 3 inner ear malformation
K Xu, Y Xiao, J Luo, X Chao, R Wang, Z Fan… - European Archives of …, 2024 - Springer
98 天前 - … This review aims to provides a comprehensive overview of the latest research progress
on IP-III inner ear malformation… Advances in diagnostic imaging and genetic testing have …
on IP-III inner ear malformation… Advances in diagnostic imaging and genetic testing have …
Genetics and Epigenetics in the Genesis and Development of Microtia
X Chen, J Ma, T Zhang - Journal of Craniofacial Surgery, 2024 - journals.lww.com
133 天前 - … a congenital malformation of the external and middle ear … structural abnormalities
to the absence of the external ear … most common congenital craniofacial malformation and is …
to the absence of the external ear … most common congenital craniofacial malformation and is …
Letter regarding:“Bilateral cochlear implants in a case of spondyloenchondrodysplasia with sensorineural hearing loss: Case report”
XZ Zhu, DC Mo, L Chen - International Journal of Surgery Case …, 2024 - ncbi.nlm.nih.gov
144 天前 - … deafness, no relevant abnormalities were found on CT, … not mention genetic testing
for deafness and whether genetic testing … In their review, they found no cases in the literature …
for deafness and whether genetic testing … In their review, they found no cases in the literature …