Results 191 to 200 of about 42,857 (292)

A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and <i>NOTCH3</i>-Related CADASIL. [PDF]

Genes (Basel)
Bogliardi FM, D'Ambrosio P, Quattromini G, Di Mario G, Pomponi MG, Miele L, Vergani E, Zampino G, Liguori A, Zollino M, Crinò A.   +10 more
europepmc   +1 more source

Clinical Outcomes of the Allegra Transcatheter System in Bioprosthetic Aortic Valve Failure: A Multicentre Valve‐in‐Valve Registry

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Introduction The prevalence of bioprosthetic aortic valve failure is increasing due to the broader use of bioprosthetic valves, both surgical and transcatheter, and an ageing population. Registry data indicate a higher risk of coronary obstruction and elevated gradients following valve‐in‐valve transcatheter aortic valve implantation (TAVI ...
Hilal Khan, Mohamed Ali, Abdalazeem Ibrahem, Karim Ratib, Nur Ilia Mohd Zaki, Freidoon Keshavarzi, Alok Shah, Hesham Abdelaziz, Ayush Khurana, Alexander Chase, Diana A. Gorog, Rajiv Das, Azfar Zaman, Mohammad AlKhalil, Mohamed Farag   +14 more
wiley   +1 more source

Clinical analysis of prenatal diagnosis, ultrasound findings, and follow-up in 92 Turner mosaic fetuses: a retrospective analysis of 12-year experience. [PDF]

BMC Pregnancy Childbirth
Luo X, Niu H, Tang Y, Xu J, Zhou F, Cong X, Li S, Pei Y, Chang L, Liu W, Wei F.   +10 more
europepmc   +1 more source

DNA Nanotechnology Meets Peptide and Protein Self‐Assembly

Chemistry – A European Journal, EarlyView.
Combining DNA nanotechnology with peptide and protein assembly provides complementary platforms for the rational engineering of functional biomaterials. This Perspective discusses the emerging field of self‐assembling DNA‐peptide and DNA‐protein hybrid systems that combine the structural precision and programmability of DNA nanotechnology with the ...
Marcel Hanke, Nanjundan Raghul, Adrian Keller, Veikko Linko, Verónica I. Dodero   +4 more
wiley   +1 more source

Long-term outcomes in 45,X/46,XY mosaicism: a 30-year retrospective study in Hong Kong. [PDF]

Ann Pediatr Endocrinol Metab
Poon SWY, To SWY, Siu LLP, Cheng SSW, Ho SKL, Pang GSW, So PPL, Tung JYL, Luk HM.   +8 more
europepmc   +1 more source

Siblings With Duchenne Muscular Dystrophy: Exploring Diagnosis Age and Disease Progression in a Genetic Therapy‐Naïve Cohort

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam, Cuixia Tian, Niki Armstrong, Valentina Pilipenko, Lisa J. Martin, Alexander Zygmunt, Irina Rybalsky, Lisa Reebals, Chinmayee B. Nagaraj   +8 more
wiley   +1 more source

Unilateral nevoid telangiectasia and ipsilateral capillary malformation. [PDF]

JAAD Case Rep
Colbert MD, Monge J, Tollefson MM.
europepmc   +1 more source

A Synonymous DLG4 Variant (c.771G>A) Causes Exon 9 Skipping via Paternal Germline Mosaicism in DLG4-Related Synaptopathy. [PDF]

Mol Genet Genomic Med
Chen J, Zhao Q, Zhang X, Wu N, Xi X, Zeng Y, Wu S, Yuan K, Liu Z, Wu X, Zeng S.   +10 more
europepmc   +1 more source

Towards a Biodiversity Positive Business Strategy: The MCRV (Monitoring, Conserving, Restoring, Valorizing) Framework

Corporate Social Responsibility and Environmental Management, EarlyView.
ABSTRACT Despite mounting regulatory pressure and growing scientific consensus on biodiversity loss, most corporate action remains reactive, fragmented, and strategically peripheral. Existing frameworks address what firms should report rather than how they can build the organizational capabilities required to act strategically.
Jacopo Cricchio, Valentina Cucino, Alberto Di Minin, Gianmaria Ontano, Andrea Piccaluga   +4 more
wiley   +1 more source