Results 181 to 190 of about 14,022 (262)

Impact of the Ilizarov apparatus on external fixation: Current modifications of the 75-year-old orthopedic tool. [PDF]

World J Orthop
Sutyagin I, Malkova TA.
europepmc   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1222-1230, June 2026.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Anatomical Variations in Bilateral Hand Oligodactyly: A Case Analysis of Cleft Hand. [PDF]

Diagnostics (Basel)
Hur MS, Shim JW, Bae JH, Kang JS, Nam KI, Oh CS.   +5 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Predictors of postoperative complications in extensor tendon repairs. [PDF]

Turk J Phys Med Rehabil
Uçkun AÇ, Yurdakul FG, Ergani HM, Güler T, Yaşar B, Başkan B, Bodur H, Ünlü RE.   +7 more
europepmc   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

The role of genetics and molecular mechanisms in early onset scoliosis. [PDF]

J Clin Orthop Trauma
Feng S, Feng S, Du Y, Choi SW, Cheung KSC, Cheung JPY, Su Z.   +6 more
europepmc   +1 more source

OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor

Arthritis &Rheumatology, Volume 78, Issue 6, Page 1318-1326, June 2026.
Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Diagnostic value of karyotyping, CMA/CNV-seq, and WES in fetuses with thickened nuchal translucency: perinatal and two-year follow-up outcomes. [PDF]

BMC Med Genomics
Wang M, Ji Y, Xu Y, Sun S, Yang X, Sun L, Wu Q.   +6 more
europepmc   +1 more source

Clenched fist syndrome: unveiling a motor manifestation of schizophrenia-a case report. [PDF]

J Med Case Rep
Samir K, Zaheer J, Subash A, Subash T, Ahmed S.   +4 more
europepmc   +1 more source