Results 231 to 240 of about 982,648 (300)

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Dental Occlusion Measurement: A Methodological Evaluation to Improve Clinical Gnathology. [PDF]

Sensors (Basel)
Rosati R, Henin D, Pellegrini G, Sfondrini MF, Scribante A, Carmagnola D, Dellavia C.   +6 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Acute and Short-Term Effects of Real-Time Feedback Neuromuscular Training on Vertical Jump Performance and Reactive Efficiency in Youth Basketball Players. [PDF]

Sports (Basel)
Iacobini AR, Hillerin PJ, Geantă VA.
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Gait asymmetry across frailty-status groups in older adults: clinical and biomechanical evidence from 3D gait analysis. [PDF]

Ann Med
Gao J, Ke X, Su Q, Zhuo P, Li Y, Huang S, Lan X, Jiang C, Lin Z.   +8 more
europepmc   +1 more source

Medication-related osteonecrosis of the external auditory canal and treatment with teriparatide. [PDF]

JCEM Case Rep
Xia D, Ting MJM, Atlas MD, Boeddinghaus R, Stuckey BGA.   +4 more
europepmc   +1 more source

Electrocardiographic Repolarization Changes Following Orchiectomy: Insights Into QT Interval Prolongation and Clinical Implications. [PDF]

Ann Noninvasive Electrocardiol
Sakaguchi Y, Iijima K, Suzuki N, Hakamata T, Ikami Y, Otsuki S, Yagihara N, Izumi D, Inomata T.   +8 more
europepmc   +1 more source

Comparative Diagnostic Efficacy of Swept-Source OCT and Scheimpflug Imaging in Clinically Unaffected Eyes of Very Asymmetric Ectasia. [PDF]

Ophthalmol Sci
Herber R, Naujokaitis T, Ambrósio R, Ramm L, Lenk J, Raiskup F, Khoramnia R.   +6 more
europepmc   +1 more source

The Effect of Nostril Retainer Use on Nostril Aperture Symmetry After Primary Aesthetic Rhinoplasty. [PDF]

Medicina (Kaunas)
Gülhan Yaşar N, Yeniçeri A, Hazır B, Kayalı Dinç AS, Çayönü M.   +4 more
europepmc   +1 more source