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Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27.
Eur J Med Genet. 2014.
PMID: 24874887
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder.
Hernando-Davalillo C, Martín AAS, Borregan Prats M, Ortigoza-Escobar JD.
Hernando-Davalillo C, et al.
Clin Genet. 2022 Nov;102(5):434-437. doi: 10.1111/cge.14194. Epub 2022 Jul 31.
Clin Genet. 2022.
PMID: 35861186
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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.
Bullich G, et al.
J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003.
J Mol Diagn. 2022.
PMID: 35569879
Free article.
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PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
Pijuan J, Ortigoza-Escobar JD, Ortiz J, Alcalá A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F, Hoenicka J.
Pijuan J, et al. Among authors: hernando davalillo c.
Autism Res. 2021 Jun;14(6):1088-1100. doi: 10.1002/aur.2502. Epub 2021 Mar 22.
Autism Res. 2021.
PMID: 33749153
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Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart J, Cortes F, Hernando-Davalillo C, Montero R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S, Serrano M.
Castiglioni C, et al. Among authors: hernando davalillo c.
Hum Mutat. 2021 Feb;42(2):142-149. doi: 10.1002/humu.24151. Epub 2020 Dec 21.
Hum Mutat. 2021.
PMID: 33300232
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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.
Roldán M, Nolasco GA, Armengol L, Frías M, Morell M, García-Aragonés M, Epifani F, Muchart J, Ramírez-Almaraz ML, Martorell L, Hernando-Davalillo C, Urreizti R, Serrano M.
Roldán M, et al. Among authors: hernando davalillo c.
Int J Mol Sci. 2023 Sep 5;24(18):13699. doi: 10.3390/ijms241813699.
Int J Mol Sci. 2023.
PMID: 37762002
Free PMC article.
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Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature.
Soliani L, Alcalá San Martín A, Balsells S, Hernando-Davalillo C, Ortigoza-Escobar JD.
Soliani L, et al. Among authors: hernando davalillo c.
Mov Disord Clin Pract. 2023 Mar 16;10(4):547-557. doi: 10.1002/mdc3.13711. eCollection 2023 Apr.
Mov Disord Clin Pract. 2023.
PMID: 37070051
Free PMC article.
Review.
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