Results 211 to 220 of about 509,989 (407)

A supplement, not a substitute: Accuracy and completeness of ChatGPT responses for common elbow pathology. [PDF]

open access: yesShoulder Elbow
Fiedler B   +7 more
europepmc   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa   +4 more
wiley   +1 more source

A Unique Case of Bilateral Elbow Terrible Triad in a Polytrauma Patient: Associated Challenges in Management. [PDF]

open access: yesJ Orthop Case Rep
Choudhary L   +5 more
europepmc   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger   +3 more
wiley   +1 more source

Osteochondritis dissecans of the elbow

open access: yesCurrent Reviews in Musculoskeletal Medicine, 2016
Ryan W. Churchill   +2 more
semanticscholar   +1 more source

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed   +16 more
wiley   +1 more source

Multi-centre retrospective study of long-term outcomes following traumatic elbow luxation in 37 dogs [PDF]

open access: yes, 2016
Calvo, I   +7 more
core   +2 more sources

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