Results 151 to 160 of about 47,680 (217)

SKOOTS: Skeleton‐Oriented Object Segmentation for Mitochondria in High‐Resolution Cochlear EM Datasets

open access: yesAdvanced Science, Volume 13, Issue 32, 9 June 2026.
Skeleton‐oriented object segmentation (SKOOTS) introduces a new strategy for 3D mitochondrial instance segmentation by predicting explicit skeletons rather than relying on boundary cues. This approach enables robust analysis of densely packed organelles in large FIB‐SEM datasets.
Christopher J. Buswinka   +3 more
wiley   +1 more source

Association between Vitamin D Level and Sensorineural Hearing Loss in Adults: Systematic Review and Meta-Analysis. [PDF]

open access: yesFood Sci Nutr
Mohmed AMA   +5 more
europepmc   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1403-1410, June 2026.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang   +6 more
wiley   +1 more source

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
Visualization of ZPR1 protein variants. ABSTRACT We report the case of a 13‐month‐old female with multiple congenital anomalies including microcephaly, generalized hypotonia, sensorineural hearing loss, visual impairment, alopecia, and hypoplastic kidneys with chronic kidney disease, and dysmorphic craniofacial features.
Giavanna Verdi   +6 more
wiley   +1 more source

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy. [PDF]

open access: yesOrphanet J Rare Dis
Roberts JP   +8 more
europepmc   +1 more source

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Rayan Khalid, Imad Fadl‐Elmula
wiley   +1 more source

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