Results 121 to 130 of about 455,442 (295)
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221). [PDF]
Genes (Basel), 2022 Clement A +9 more
europepmc +1 more source
Diversity of human chromosome structural rearrangements rearrangement and genetic sequence. [PDF]
, 2011 Chromosome structural rearrangements could cause various human health problems. Even Down’s or Turner’s syndromes, which are usually determined by chromosome number change, in some cases could be caused by chromosome structure abnormalities.
Čiuladaitė, Živilė,
core
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Analysis of clinical outcomes and meiotic segregation modes following preimplantation genetic testing for structural rearrangements using aCGH/NGS in couples with balanced chromosome rearrangement. [PDF]
Reprod Med Biol, 2022 Nakano T +5 more
europepmc +1 more source
Epilepsia Open, EarlyView.Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi +10 more
wiley +1 more source
PlantsNarcissus poeticus L. (Amaryllidaceae), a facultative serpentinophyte, is a highly variable species and particularly important ancestor of cultivated daffodils, but is rarely studied in field populations.
Fatima Pustahija +2 more
doaj +1 more source
Exploration, EarlyView.Engineered micro/nanomaterials enable high‐efficiency CTC capture, release, and multimodal molecular profiling. Integrated with AI‐driven analytics, these platforms decode tumor heterogeneity and metastatic dynamics, advancing real‐time monitoring and precision oncology through DNA, RNA, and protein cross‐scale data fusion.
Hao Li +7 more
wiley +1 more source
Gold-catalyzed [5,5]-rearrangement
, 2021 A highly efficient gold-catalyzed cycloisomerization of 1,5-diynes was developed. Various functional groups are tolerated under the mild reaction conditions, which provides an alternative approach for the synthesis of indeno[1,2-c]furans. On the basis of
Rudolph, M (15673376) +10 more
core
High chromosome variability and the presence of multivalent associations in buthid scorpions
, 2013 In this study, we investigated the mitotic and meiotic chromosomes of 11 Buthidae scorpion species, belonging to three genera (Ananteris, Rhopalurus and Tityus), to obtain detailed knowledge regarding the mechanisms underlying the intraspecific and/or ...
Mattos, Viviane Fagundes [UNESP] +7 more
core +1 more source