Results 161 to 170 of about 32,784 (274)
First Detection of 1p36 Deletion by Whole‐Exome Sequencing in a Tunisian Patient
ABSTRACT Study Objective We reported a rare case of 1p36 deletion syndrome diagnosed using whole‐exome sequencing (WES) in a Tunisian neonate, and to highlight the utility of WES in detecting structural variants, particularly in resource‐limited settings.
Nesrine Kerkeni +6 more
wiley +1 more source
Genome‐wide data from ddRADseq revealed a latitudinal gradient in genetic diversity in a Taiwanese endemic orchid. This study shows that genomic data not only can help us understand the evolutionary origins of genetic diversity in a species but also uncover its genetic reservoir for future conservation planning.
Wei‐Yun Chen +3 more
wiley +1 more source
Detection of abl/bcr Fusion Gene in Patients Affected by Chronic Myeloid Leukaemia by Dual-Colour Interphase Fluorescence in situ Hybridisation [PDF]
Conventional cytogenetic is the standard technique for detection of Philadelphia (Ph) chromosome in chronic myeloid leukemia (CML). Evaluation of abelson murine leukemia/breakpoint cluster region (abl/bcr) fusion using dual-colour fluorescence in situ ...
doaj
The study identified a novel SEMA3A exons 6–9 deletion variant in Kallmann syndrome that impairs GnRH neuronal migration and alters cell migration, gonad development, and synaptic pathways. The study expands mutation spectrum and offers mechanistic insights for clinical diagnosis of Kallmann syndrome.
Shaolian Zang +4 more
wiley +1 more source
ABSTRACT Increasing wildfire activity is driving permafrost thaw in subarctic peatlands across the southern Northwest Territories, but the key mechanisms and progression of thaw following fire remain poorly understood. In response, 10 years (2015–2024) of near‐continuous surface (four‐component radiation, wind, and snow) and subsurface measurements ...
Maude Auclair +4 more
wiley +1 more source
Clonal rearrangement and expression of the T cell receptor beta gene and involvement of the breakpoint cluster region in blast crisis of CGL [PDF]
LC Chan +4 more
openalex +1 more source
Antimicrobial resistance in various infectious agents poses a public health threat. Therefore, this study aimed to determine the antibiotic resistance profiles, biofilm formation abilities and molecular characterisation of colistin‐resistant Escherichia coli O157:H7 from cattle carcasses.
Mukaddes Barel +7 more
wiley +1 more source
Abstract Drought significantly affects water resources, agriculture, energy, and ecosystems, revealing enduring socio‐economic vulnerabilities over the centuries. This review synthesizes a century of development and recent advances in drought research (1900–2023), drawing on a bibliometric analysis of over 152,000 peer‐reviewed publications. The review
Amitesh Sabut, Ashok Mishra
wiley +1 more source
Quantification of the breakpoint cluster region rearrangement for clinical monitoring in Philadelphia chromosome-positive chronic myeloid leukemia [PDF]
Claire F. Verschraegen +6 more
openalex +1 more source

