Molecular pathology of Schaaf-Yang syndrome: insights from MAGEL2 gene mutations and truncated proteins

Study results better define genetic landscape of cervical neuroendocrine tumors

mutation in McGill 2 The gene that causes Schaaf-Yan syndrome (SYS), an extremely rare disorder that affects neuronal and cognitive development, produces truncated, non-functional proteins that tend to accumulate in …

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Study reveals challenges faced by caregivers of children with genetic disease

Study reveals challenges faced by caregivers of children with genetic disease

When it comes to improving the lives of children with genetic diseases, medical research often focuses only on children. But a faculty member in the University of Colorado School of …

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A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay – Journal of Human Genetics

A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay - Journal of Human Genetics

Zhang Tao, Miao Sai. Mitochondrial transplantation as a promising treatment for mitochondrial diseases. Acta Pharmaceutica Sin B. 2023;13:102835. Article Google Scholar Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga …

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Majarra to collaborate with Saudi Society of Medical Genetics to publish Werathyat magazine

Majarra to collaborate with Saudi Society of Medical Genetics to publish Werathyat magazine

TBWA\RAADs Saudi Arabia managing director says Vision 2030 sets out blueprint for kingdom’s future Dubai: Advertising agency TBWA\RAAD has appointed Dan Leach as general manager of its Saudi operations, following …

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Exploring hematological alterations and genetics associated with SNV rs10974944 in myeloproliferative neoplasms in Amazonian patients – Scientific Reports

Exploring hematological alterations and genetics associated with SNV rs10974944 in myeloproliferative neoplasms in Amazonian patients - Scientific Reports

Myeloproliferative neoplasms have characteristic changes on laboratory examination, as well as genetic findings that allow their recognition and differentiation. The discovery of genetic alterations involving introns is not yet fully …

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Wheat seed market to reach $8.88 billion by 2033; innovative investments in wheat genetics and sustainability initiatives drive growth

Wheat seed market to reach $8.88 billion by 2033; innovative investments in wheat genetics and sustainability initiatives drive growth

Newark, April 23, 2024 (GLOBE NEWSWIRE) — Brainy Insights predicts that the global wheat seed market size will be US$6 billion in 2023 and will reach US$8.88 billion by 2033. …

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SOPHiA GENETICS announces Syndicate Bio as Africa’s first liquid biopsy customer biospace

SOPHiA DDM Platform Lab Users

Syndicate Bio to implement new liquid biopsy product to advance cancer diagnostics across Africa BOSTON and ROHR, Switzerland , April 23, 2024 /PRNewswire/ — Sophia Genetics (Nasdaq: SOPH), a cloud-native …

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