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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
The implementation of a hepatitis C testing service in community pharmacies: I-COPTIC consensus statement.
Cook C, Reid L, Elsharkawy AM, Radley A, Smith S, McPherson S, Crockford D, Dillon JF, Wright M, Morris D, Malik H, Keall S, Powell J, Catt J, Hampton H, Boothman H, Shah S, Spear J, Ustianoski A, John P, Stevens H, Khakoo SI, Parkes J, Buchanan RM. Cook C, et al. Among authors: stevens h. Public Health. 2024 May 22;232:153-160. doi: 10.1016/j.puhe.2024.04.017. Online ahead of print. Public Health. 2024. PMID: 38781782
Amplitude Analysis of the B^{0}→K^{*0}μ^{+}μ^{-} Decay.
Aaij R, Abdelmotteleb ASW, Abellan Beteta C, Abudinén F, Ackernley T, Adeva B, Adinolfi M, Adlarson P, Agapopoulou C, Aidala CA, Ajaltouni Z, Akar S, Akiba K, Albicocco P, Albrecht J, Alessio F, Alexander M, Alfonso Albero A, Aliouche Z, Alvarez Cartelle P, Amalric R, Amato S, Amey JL, Amhis Y, An L, Anderlini L, Andersson M, Andreianov A, Andreola P, Andreotti M, Andreou D, Anelli A, Ao D, Archilli F, Argenton M, Arguedas Cuendis S, Artamonov A, Artuso M, Aslanides E, Atzeni M, Audurier B, Bacher D, Bachiller Perea I, Bachmann S, Bachmayer M, Back JJ, Bailly-Reyre A, Baladron Rodriguez P, Balagura V, Baldini W, Baptista de Souza Leite J, Barbetti M, Barbosa IR, Barlow RJ, Barsuk S, Barter W, Bartolini M, Baryshnikov F, Basels JM, Bassi G, Batsukh B, Battig A, Bay A, Beck A, Becker M, Bedeschi F, Bediaga IB, Beiter A, Belin S, Bellee V, Belous K, Belov I, Belyaev I, Benane G, Bencivenni G, Ben-Haim E, Berezhnoy A, Bernet R, Bernet Andres S, Bernstein HC, Bertella C, Bertolin A, Betancourt C, Betti F, Bex J, Bezshyiko I, Bhom J, Bieker MS, Biesuz NV, Billoir P, Biolchini A, Birch M, Bishop FCR, Bitadze A, Bizzeti A, Blago MP, Blake T, Blanc F, Blank JE, Blusk S, Bobulska D, Bocharn… See abstract for full author list ➔ Aaij R, et al. Among authors: stevens h. Phys Rev Lett. 2024 Mar 29;132(13):131801. doi: 10.1103/PhysRevLett.132.131801. Phys Rev Lett. 2024. PMID: 38613276
890 results