Results 71 to 80 of about 11,048 (255)

Key Genes Identified in Nonsyndromic Microtia by the Analysis of Transcriptomics and Proteomics

open access: yesACS Omega, 2022
As one of the common birth defects worldwide, nonsyndromic microtia is a complex disease that results from interactions between environmental and genetic factors.
Xin Chen   +8 more
semanticscholar   +1 more source

Hypoxic conditions alter developing branchial arch-derived structures in zebrafish [PDF]

open access: yes, 2014
Background: Previous epidemiological findings have implicated hypoxia as a risk factor for craniofacial defects including cleft lip, microtia and branchial arch anomalies.
Parsons, Trish E   +3 more
core   +3 more sources

Vat photopolymerization‐based bioprinting: Shaping next‐generation tissues with light

open access: yesInterdisciplinary Medicine, Volume 4, Issue 1, January 2026.
Vat photopolymerization‐based bioprinting is revolutionizing biofabrication by enabling high‐precision construction of biological structures. This review systematically examines photopolymerization mechanisms and variants in printing techniques, discusses design principles and composition of bio‐inks, and highlights recent progress toward next ...
Wei Long Ng   +4 more
wiley   +1 more source

Auricular cartilage repair using cryogel scaffolds loaded with BMP-7-expressing primary chondrocytes [PDF]

open access: yes, 2013
The loss of cartilage tissue due to trauma, tumour surgery or congenital defects, such as microtia and anotia, is one of the major concerns in head and neck surgery.
Al-Dosari   +35 more
core   +1 more source

MRI features in foetal microtia [PDF]

open access: green, 2021
Can Mu, Song Peng, Bin Yu
openalex   +1 more source

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus   +5 more
wiley   +1 more source

Diagnostic Yield and Genotype–Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain

open access: yesEuropean Journal of Neurology, Volume 33, Issue 1, January 2026.
Clinical exome sequencing (CES) was performed on 108 Spanish patients with suspected hereditary spastic paraparesis (HSP), using a virtual 129‐gene panel and HPO‐based variant filtering. A molecular diagnosis was achieved in 53% of cases, with 21 causative genes identified (8 novel variants), SPAST (AD) and SPG7 (AR) being the most frequent genetic ...
Lidón Carretero‐Vilarroig   +8 more
wiley   +1 more source

Congenital Nasal Choristoma (Hairy Polyp) in a Term Neonate: A Case Report and Review of the Literature

open access: yesClinical Case Reports, Volume 13, Issue 10, October 2025.
A term newborn with nasal mass caused by choristoma (hairy poly). ABSTRACT We describe the case of a term Hispanic male neonate with a nasal septum/inferior turbinate choristoma. The presented case report includes a review of the historical, radiological, surgical, and histological features, and the literature on this entity.
Surasak Puvabanditsin   +6 more
wiley   +1 more source

Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis [PDF]

open access: yes, 2013
Microcephaly represents one of the most obvious clinical manifestations of impaired neurogenesis. Defects in the DNA damage response, in DNA repair, and structural abnormalities in centrosomes, centrioles and the spindle microtubule network have all been
Abramowicz, Iga   +4 more
core   +1 more source

Systematic Review of Quality of Life in Bone Anchored Hearing: Conductive vs. Unilateral Sensorineural Hearing Loss

open access: yesThe Laryngoscope, Volume 135, Issue 10, Page 3472-3484, October 2025.
The literature demonstrates that bone‐anchored hearing implants have a positive impact on auditory performance and quality of life (QoL), but these outcomes may not always correlate. This systematic review analyzed 56 articles to identify discrepancies in self‐reported, disease‐specific QoL benefits among patients with either unilateral sensorineural ...
Karina Théorêt   +4 more
wiley   +1 more source

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