Results 201 to 210 of about 590,083 (218)

Identification of <i>CD320</i>-Associated Cobalamin Transport Deficiency Through Newborn Screening Caused by Novel Homozygous Candidate Variants. [PDF]

Genes (Basel)
Almalki F, Alsofyany AS, Almalki AK, Abu Shuaylan AO, Alruqi H, Althobiti JM.   +5 more
europepmc   +1 more source

Beyond Economic‐Environmental Dominance: Knowledge Management and Responsible Sustainability in Business Strategy Research

Business Strategy and the Environment, EarlyView.
ABSTRACT This study provides an exploratory, descriptive analysis of how knowledge management (KM) research engages with responsible sustainability from a strategic perspective. Using bibliometric science mapping, we analyse 97 Web of Science publications to identify dominant thematic patterns, relative emphases and conceptual blind spots shaping the ...
Jaime J. González‐Masip
wiley   +1 more source

Mitochondrial DNA mutations are associated with impaired oxidative phosphorylation and enhanced imatinib response in chronic myeloid leukemia. [PDF]

Hemasphere
Pagani IS, Krishnan V, Ouyang JF, Kok CH, Chen B, Lee KL, Pham CM, Wang P, Page E, Dang P, Saunders VA, James J, Lim K, Mangiola S, Gao Y, Shanmuganathan N, Yong A, Branford S, Chuah C, Yeung DT, White DL, Helgason VG, Thomas D, Ong ST, Hughes TP, Ross DM.   +25 more
europepmc   +1 more source

Characterization of the Mitochondrial Genome Landscape in MSCs, iPSCs and iMSCs from Osteoarthritis Patients and Healthy Donors. [PDF]

Genes (Basel)
Konteles V, Papathanasiou I, Tzetis M, Goussetis E, Malizos K, Tsezou A.   +5 more
europepmc   +1 more source

Targeted Sequencing and Haplotype Analysis of Voltage-Gated Potassium Channel Genes Reveal a Potential Association of <i>KCNV2</i> Haplotypes with Antiseizure Medication Response in Turkish Patients with Epilepsy. [PDF]

Pharmaceuticals (Basel)
Pekkoc-Uyanik KC, Todurga-Seven ZG, Agay ER, Uzun H.   +3 more
europepmc   +1 more source

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A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia

Journal of Clinical Endocrinology and Metabolism, 2022
Abdul Nasir, kheloud Alhamoudi, Hindi Al-Hindi   +2 more
exaly  

A synonymous variant in a non-canonical exon of disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis

European Journal of Medical Genetics, 2021
Ashwin Dalal, Louise Bicknell, Shagun Aggarwal   +2 more
exaly  

Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant

Neuromuscular Disorders, 2023
Patricia Blanco-Arias, Francesca Perin
exaly