Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH6)

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American journal of hematology·2024

Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome.

Nature medicine·2022

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Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

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In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

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A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

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BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

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Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion·2026

Appreciating diversity: a review of the Iranian genomic landscape.

European journal of human genetics : EJHG·2026

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Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

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Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH6)

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