Results 281 to 290 of about 534,196 (400)

Comparison of Sedentary Estimates between activPAL and Hip- and Wrist-Worn ActiGraph.

Medicine & Science in Sports & Exercise, 2016
A. Koster, E. Shiroma, P. Caserotti, C. Matthews, Kong Y. Chen, N. Glynn, T. Harris   +6 more
semanticscholar   +1 more source

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

American 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, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Combining nonlinear mechanical stimulation via a chaotic mathematical model and game-based exercise for upper extremity rehabilitation in children with spastic hemiparetic cerebral palsy: a pilot study. [PDF]

Biomed Eng Online
Hosseini P, Hashemi ME, Fard ZZ, Noghani DZJ, Ghanbari Z, Hashemi N, Toosi MB, Akhondian J, Chamanabad AG, Sadeghi T, Kobravi HR.   +10 more
europepmc   +1 more source

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

American 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, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Comparison of Radiographic Stress Views in Detecting Scapholunate Ligament Injuries: A Cadaveric Model Study. [PDF]

J Clin Med
Omar UF, Ng J, Sim WP, Rajaratnam V.
europepmc   +1 more source

Lesions of the flexor carpi radialis tendon and sheath causing pain at the wrist.

, 1968
John Fitton, F. W. Shea, William Goldie
openalex  

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

American 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, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Carpal tunnel syndrome in primary care. [PDF]

Singapore Med J
Sze KP, Leong AZ.
europepmc   +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Bipartite trapezium - rare congenital accessory bone: a case report of two bilateral cases among related patients and description of new accessory bone - os scaphocapitatum anterius. [PDF]

BMC Musculoskelet Disord
Vojtěch K, David V, Pavel D.
europepmc   +1 more source