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Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313.
Brain. 2021.
PMID: 34415310
Free PMC article.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R.
Cali E, et al.
Genet Med. 2023 Jan;25(1):135-142. doi: 10.1016/j.gim.2022.09.016. Epub 2022 Nov 18.
Genet Med. 2023.
PMID: 36399134
Free PMC article.
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Effects of contemporary shifts of range margins on patterns of genetic structure and mating system in two coastal plant species.
Latron M, Arnaud JF, Ferla H, Godé C, Duputié A.
Latron M, et al.
Heredity (Edinb). 2020 Feb;124(2):336-350. doi: 10.1038/s41437-019-0269-0. Epub 2019 Sep 20.
Heredity (Edinb). 2020.
PMID: 31541203
Free PMC article.
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Polymorphic nuclear markers for coastal plant species with dynamic geographic distributions, the rock samphire (Crithmum maritimum) and the vulnerable dune pansy (Viola tricolor subsp. curtisii).
Latron M, Arnaud JF, Ferla H, Godé C, Duputié A.
Latron M, et al.
Mol Biol Rep. 2018 Jun;45(3):203-209. doi: 10.1007/s11033-018-4153-4. Epub 2018 Feb 5.
Mol Biol Rep. 2018.
PMID: 29404829
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