Results 171 to 180 of about 52,464 (357)

Muscular Dystrophy in Three Pairs of Twins [PDF]

, 1959
Hubert C. Soltan
openalex   +1 more source

Detecting Multiple Replicating Signals using Adaptive Filtering Procedures [PDF]

arXiv, 2016
Replicability is a fundamental quality of scientific discoveries: we are interested in those signals that are detectable in different laboratories, study populations, across time etc. Unlike meta-analysis which accounts for experimental variability but does not guarantee replicability, testing a partial conjunction (PC) null aims specifically to ...
arxiv  

De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy

Clinical Genetics, Volume 103, Issue 2, Page 242-246, February 2023., 2023
Abstract Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the deletion of an integral number of 3.3 kb units of the polymorphic D4Z4 repeat array at 4q35. The prenatal identification of this defect can be carried out on chorionic villi or amniocytes, whereas preimplantation genetic testing for monogenic disorders (PGT‐M) requires ...
Sara Pini, Floriana Maria Napoli, Enrico Tagliafico, Antonio La Marca, Emma Bertucci, Valentina Salsi, Rossella Tupler   +6 more
wiley   +1 more source

Cardiomyopathies and Arrythmias in Neuromuscular Diseases

Cardiogenetics
Neuromuscular diseases (NMDs) encompass various hereditary conditions affecting motor neurons, the neuromuscular junction, and skeletal muscles. These disorders are characterized by progressive muscle weakness and can manifest at different stages of life,
Giuseppe Sgarito, Calogero Volpe, Stefano Bardari, Raimondo Calvanese, Paolo China, Giosuè Mascioli, Martina Nesti, Carlo Pignalberi, Manlio Cipriani, Massimo Zecchin   +9 more
doaj   +1 more source

RIBOSURIA IN MUSCULAR DYSTROPHY [PDF]

, 1953
W.B. Matthews, M. J. H. Smith
openalex   +1 more source

PATHOLOGY OF PSEUDOHYPERTROPHIC MUSCULAR DYSTROPHY [PDF]

, 1908
O. P. Johnstone
openalex   +1 more source

Research progress of antibody coupling technique in targeted drug delivery

Interdisciplinary Medicine, EarlyView.
Abstract Antibody‐drug conjugates are a cutting‐edge biotechnology recently attracting wide attention in the medical field. Binding antibodies to drug molecules could deliver drugs precisely to the site of the lesion, which shows great potential in the treatment of tumors and immune diseases.
Meng Li, Tiantian Wang, Dan Tan, Mengqi Wang, Changhai Lei, Yuqing Wang, Shi Hu   +6 more
wiley   +1 more source

Cases of Pseudo-Hypertrophic Paralysis and other Forms of Progressive Muscular Dystrophy [PDF]

, 1898
Jelliffe
openalex   +1 more source

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, EarlyView.
Abstract Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death.
Erin M. Miller, Emily Brown, Susan Christian, Melissa A. Kelly, Linda M. Knight, Sara Saberi, Christina Rigelsky, Jodie Ingles   +7 more
wiley   +1 more source

Case of Pseudo-Hypertrophic Muscular Dystrophy Associated with Amentia [PDF]

, 1915
E. G. Fearnsides
openalex   +1 more source