Results 71 to 80 of about 9,046 (221)
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza +3 more
wiley +1 more source
Egyptian Journal of Medical Human Genetics, 2014 Background: Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs.
Rabah M. Shawky +3 more
doaj +1 more source
Orthopaedic Surgery, 2021 Background Developmental dysplasia of the hip (DDH) is the main factor that causes secondary osteoarthritis of the hip (hip OA). Acetabular retroversion results in pincer‐type femoroacetabular impingement (FAI), and this is also known to cause secondary ...
Masashi Shimamura +4 more
doaj +1 more source
Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy [PDF]
, 2018 Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis, characteristic morphological abnormalities of erythroblasts, and iron overloading. CDA I is caused by mutations in the CDAN I gene,
Benz, Rudolf +4 more
core
Orbital causes of incomitant strabismus [PDF]
, 2015 Strabismus may result from abnormal innervation, structure, or function of the extraocular muscles. Abnormalities of the orbital bones or masses within the orbit may also cause strabismus due to indirect effects on the extraocular muscles.
Lueder, Gregg T
core +3 more sources
Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1
American Journal of Perinatology Reports, 2015 We report a new case of frontofacionasal dysplasia or dysostosis (FFND) with a 1.5 Mb duplication in the region of 7p15.2-p15.1, and provide a review of the literature to understand the underlying pathogenesis better.
Tamer Mansour +5 more
doaj +1 more source
Pseudoartrosis congénita bilateral de la clavícula: a propósito de un caso familiar [PDF]
, 1994 Presentamos una paciente de nueve meses con pseudoartrosis congénita bilateral de ambas clavículas, cuya madre presenta el mismo cuadro. Dicho cuadro es una entidad rara, pobremente documentada en la ortopedia pediátrica.
Arranz Roa, A. +4 more
core
Gentrepid V2.0: a web server for candidate disease gene prediction [PDF]
, 2013 Contains fulltext : 124935.pdf (publisher's version ) (Open Access)BACKGROUND: Candidate disease gene prediction is a rapidly developing area of bioinformatics research with the potential to deliver great benefits to human health.
Bains, Naresh +8 more
core +2 more sources
, 2010 We have reported a case of Yunis-Varon syndrome which is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones, characteristic facial features, abnormalities of the fingers and/or toes ...
Dal, SI, Parmar, P
core +1 more source
The Anatomical Record, Volume 308, Issue 12, Page 3186-3196, December 2025.Examples from the graphic library depicting morphologies of interparietal bones, ossicles at lambda, mendosal sutures, and intrasutural ossicles. Abstract Due to its complex ossification during development, the superior region of the human occipital bone is a frequent site of supernumerary bones known as interparietal bones.
Melissa D. Clarkson +4 more
wiley +1 more source