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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3.
Genet Med. 2021.
PMID: 34345025
Free PMC article.
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
Aboheimed GI, AlRasheed MM, Almudimeegh S, Peña-Guerra KA, Cardona-Londoño KJ, Salih MA, Seidahmed MZ, Al-Mohanna F, Colak D, Harvey RJ, Harvey K, Arold ST, Kaya N, Ruiz AJ.
Aboheimed GI, et al. Among authors: pena guerra ka.
J Biol Chem. 2022 Jul;298(7):102018. doi: 10.1016/j.jbc.2022.102018. Epub 2022 May 6.
J Biol Chem. 2022.
PMID: 35526563
Free PMC article.
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SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Khan A, Bruno LP, Alomar F, Umair M, Pinto AM, Khan AA, Khan A, Saima, Fabbiani A, Zguro K, Furini S, Mencarelli MA, Renieri A, Resciniti S, Peña-Guerra KA, Guzmán-Vega FJ, Arold ST, Ariani F, Khan SN.
Khan A, et al. Among authors: pena guerra ka.
Front Mol Neurosci. 2022 Jun 17;15:877258. doi: 10.3389/fnmol.2022.877258. eCollection 2022.
Front Mol Neurosci. 2022.
PMID: 35782384
Free PMC article.
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Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Altassan R, AlQudairy H, AlJebreen S, AlMuhaizea M, Al-Hindi H, Pena-Guerra KA, Ghebeh H, Almzroua A, Albakheet A, AlDosary M, Colak D, Arold ST, Kaya N.
Altassan R, et al. Among authors: pena guerra ka.
Am J Med Genet A. 2024 Apr;194(4):e63498. doi: 10.1002/ajmg.a.63498. Epub 2023 Dec 21.
Am J Med Genet A. 2024.
PMID: 38129970
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Leveraging AI Advances and Online Tools for Structure-Based Variant Analysis.
Guzmán-Vega FJ, González-Álvarez AC, Peña-Guerra KA, Cardona-Londoño KJ, Arold ST.
Guzmán-Vega FJ, et al. Among authors: pena guerra ka.
Curr Protoc. 2023 Aug;3(8):e857. doi: 10.1002/cpz1.857.
Curr Protoc. 2023.
PMID: 37540795
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