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PubMed for id: 344782

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Page 1
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Alessandri JL, Celse T, Spodenkiewicz M, Calaya A, Dumont C, Jacquemont ML, Bertaut-Nativel B, Boumahni B, Rémy M, Ferroul F, Guilly S, Huby T, Irabé M, Laurens T, Munier P, Morel G, Payet F, Randrianaivo H, Doray B, Dospeux J. Alessandri JL, et al. Eur J Med Genet. 2024 Jun;69:104940. doi: 10.1016/j.ejmg.2024.104940. Epub 2024 May 3. Eur J Med Genet. 2024. PMID: 38705458 Free article.
Conformational and dynamic properties of the KH1 domain of FMRP and its fragile X syndrome linked G266E variant.
Catalano F, Santorelli D, Astegno A, Favretto F, D'Abramo M, Del Giudice A, De Sciscio ML, Troilo F, Giardina G, Di Matteo A, Travaglini-Allocatelli C. Catalano F, et al. Biochim Biophys Acta Proteins Proteom. 2024 Jul 1;1872(4):141019. doi: 10.1016/j.bbapap.2024.141019. Epub 2024 Apr 17. Biochim Biophys Acta Proteins Proteom. 2024. PMID: 38641086 Free article.
Genetic reprogramming with stem cells regenerates glomerular epithelial podocytes in Alport syndrome.
LeBleu VS, Kanasaki K, Lovisa S, Alge JL, Kim J, Chen Y, Teng Y, Gerami-Naini B, Sugimoto H, Kato N, Revuelta I, Grau N, Sleeman JP, Taduri G, Kizu A, Rafii S, Hochedlinger K, Quaggin SE, Kalluri R. LeBleu VS, et al. Life Sci Alliance. 2024 Apr 1;7(6):e202402664. doi: 10.26508/lsa.202402664. Print 2024 Jun. Life Sci Alliance. 2024. PMID: 38561223 Free PMC article.
500 results