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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: dreyer i. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
Heart defects and other features of the 22q11 distal deletion syndrome.
Fagerberg CR, Graakjaer J, Heinl UD, Ousager LB, Dreyer I, Kirchhoff M, Rasmussen AA, Lautrup CK, Birkebaek N, Sorensen K. Fagerberg CR, et al. Among authors: dreyer i. Eur J Med Genet. 2013 Feb;56(2):98-107. doi: 10.1016/j.ejmg.2012.09.009. Epub 2012 Oct 10. Eur J Med Genet. 2013. PMID: 23063575 Review.
The Surprising Dynamics of Electrochemical Coupling at Membrane Sandwiches in Plants.
Dreyer I, Vergara-Valladares F, Mérida-Quesada F, Rubio-Meléndez ME, Hernández-Rojas N, Riedelsberger J, Astola-Mariscal SZ, Heitmüller C, Yanez-Chávez M, Arrey-Salas O, San Martín-Davison A, Navarro-Retamal C, Michard E. Dreyer I, et al. Plants (Basel). 2023 Jan 3;12(1):204. doi: 10.3390/plants12010204. Plants (Basel). 2023. PMID: 36616332 Free PMC article.
TPC1-Type Channels in Physcomitrium patens: Interaction between EF-Hands and Ca2.
Mérida-Quesada F, Vergara-Valladares F, Rubio-Meléndez ME, Hernández-Rojas N, González-González A, Michard E, Navarro-Retamal C, Dreyer I. Mérida-Quesada F, et al. Among authors: dreyer i. Plants (Basel). 2022 Dec 15;11(24):3527. doi: 10.3390/plants11243527. Plants (Basel). 2022. PMID: 36559639 Free PMC article.
96 results