Polish boy’s KAT6A variant expands known spectrum of Arboleda-Tham syndrome
A case report describes a Polish boy with global developmental delay whose diagnosis of Arboleda-Tham syndrome was confirmed by a ...
Tag: genomic sequencing
B-cell leukemia masquerades as bilateral ovarian tumors in young woman
A 20-year-old woman with large bilateral ovarian masses was diagnosed with B-lymphoblastic leukemia after lymph-node and bone marrow biopsies revealed ...
Six Experts Map the Future of Rare Metabolic Disease Research
Six leading researchers outline the opportunities, challenges and emerging priorities for advancing research and therapy development in rare metabolic diseases.
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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