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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: lopez e. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Cook CB, Armstrong L, Boerkoel CF, Clarke LA, du Souich C, Demos MK, Gibson WT, Gill H, Lopez E, Patel MS, Selby K, Abu-Sharar Z; CAUSES Study; Elliott AM, Friedman JM. Cook CB, et al. Among authors: lopez e. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006125. doi: 10.1101/mcs.a006125. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34697084 Free PMC article.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. Haijes HA, et al. Among authors: lopez e. Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353023 Free PMC article.
The tale of a belly button: Rieger syndrome.
Khashu M, Osiovich H, Rudman D, Lopez E, Langlois S. Khashu M, et al. Among authors: lopez e. Clin Pediatr (Phila). 2006 Jun;45(5):453-5. doi: 10.1177/0009922806289623. Clin Pediatr (Phila). 2006. PMID: 16891279 No abstract available.
Optical Coherence Tomography in Inherited Macular Dystrophies: A Review.
Gómez-Benlloch A, Garrell-Salat X, Cobos E, López E, Esteve-Garcia A, Ruiz S, Vázquez M, Sararols L, Biarnés M. Gómez-Benlloch A, et al. Among authors: lopez e. Diagnostics (Basel). 2024 Apr 24;14(9):878. doi: 10.3390/diagnostics14090878. Diagnostics (Basel). 2024. PMID: 38732293 Free PMC article. Review.
Feasibility and Acute Toxicity of Hypo-Fractionated Radiotherapy on 0.35T MR-LINAC: The First Prospective Study in Spain.
Gonsalves D, Ocanto A, Meilan E, Gomez A, Dominguez J, Torres L, Pascual CF, Teja M, Linde MM, Guijarro M, Rivas D, Begara J, González JA, Andreescu J, Holgado E, Alcaraz D, López E, Dzhugashvli M, Lopez-Campos F, Alongi F, Couñago F. Gonsalves D, et al. Among authors: lopez e. Cancers (Basel). 2024 Apr 26;16(9):1685. doi: 10.3390/cancers16091685. Cancers (Basel). 2024. PMID: 38730637 Free PMC article.
GRANULOCYTE AND MONOCYTE ADSORPTIVE APHERESIS (GMA) IN PATIENTS WITH INFLAMMATORY BOWEL DISEASE: A USEFUL THERAPEUTIC TOOL NOT JUST IN ULCERATIVE COLITIS BUT ALSO IN CROHN´S DISEASE.
Fernández-Pérez FJ, Moreno NF, López ES, Rodriguez-González FJ, Fernández-Galeote FJ, Oliva AL, Hernández CR, Quijaite EE, Ruiz FR. Fernández-Pérez FJ, et al. Among authors: lopez es. Gastroenterol Hepatol. 2024 May 4:502196. doi: 10.1016/j.gastrohep.2024.502196. Online ahead of print. Gastroenterol Hepatol. 2024. PMID: 38710467 English, Spanish.
1,817 results