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Page 1
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA, Ahring PK, Yu Liao VW, Chua HC, Ortiz de la Rosa S, Johannesen KM, Michaeli-Yossef Y, Vincent-Devulder A, Meridda C, Bruel AL, Rossi A, Patel C, Klepper J, Bonanni P, Minghetti S, Trivisano M, Specchio N, Amor D, Auvin S, Baer S, Meyer P, Milh M, Salpietro V, Maroofian R, Lemke JR, Weckhuysen S, Christophersen P, Rubboli G, Chebib M, Jensen AA, Absalom NL, Møller RS. Mohammadi NA, et al. Among authors: rossi a. EBioMedicine. 2024 Aug;106:105236. doi: 10.1016/j.ebiom.2024.105236. Epub 2024 Jul 11. EBioMedicine. 2024. PMID: 38996765 Free PMC article.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Rossi A, Blok LS, Neuser S, Klöckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, Cappuccio G, Brunetti-Pierri N, Torun D, Arslan M, Lauridsen MF, Murch O, Irving R, Lynch SA, Mehta SG, Carmichael J, Zonneveld-Huijssoon E, de Vries B, Kleefstra T, Johannesen KM, Westphall IT, Hughes SS, Smithson S, Evans J, Dudding-Byth T, Simon M, van Binsbergen E, Herkert JC, Beunders G, Oppermann H, Bakal M, Møller RS, Rubboli G, Bayat A. Rossi A, et al. Clin Genet. 2023 Aug;104(2):186-197. doi: 10.1111/cge.14353. Epub 2023 May 10. Clin Genet. 2023. PMID: 37165752 Free PMC article.
The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Parenti I, et al. Among authors: rossi a. Front Cell Dev Biol. 2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568968 Free PMC article.
Adult Phenotype of SYNGAP1-DEE.
Rong M, Benke T, Zulfiqar Ali Q, Aledo-Serrano Á, Bayat A, Rossi A, Devinsky O, Qaiser F, Ali AS, Fasano A, Bassett AS, Andrade DM. Rong M, et al. Among authors: rossi a. Neurol Genet. 2023 Nov 17;9(6):e200105. doi: 10.1212/NXG.0000000000200105. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38045990 Free PMC article.
KECORT Study: An International e-Delphi Study on the Treatment of KEloids Using Intralesional CORTicosteroids in Clinical Practice.
Yin Q, Wolkerstorfer A, Lapid O, Qayumi K, Alam M, Al-Niaimi F, Artzi O, van Doorn MBA, Goutos I, Haedersdal M, Hsu CK, Manuskiatti W, Monstrey S, Mustoe TA, Ogawa R, Ozog D, Park TH, Pötschke J, Rossi A, Tan ST, Téot L, Wood FM, Yu N, Gibbs S, Niessen FB, van Zuijlen PPM. Yin Q, et al. Among authors: rossi a. Am J Clin Dermatol. 2024 Sep 19. doi: 10.1007/s40257-024-00888-7. Online ahead of print. Am J Clin Dermatol. 2024. PMID: 39298112
Human outbreaks of a novel reassortant Oropouche virus in the Brazilian Amazon region.
Naveca FG, de Almeida TAP, Souza V, Nascimento V, Silva D, Nascimento F, Mejía M, de Oliveira YS, Rocha L, Xavier N, Lopes J, Maito R, Meneses C, Amorim T, Fé L, Camelo FS, de Aguiar Silva SC, de Melo AX, Fernandes LG, de Oliveira MAA, Arcanjo AR, Araújo G, André Júnior W, de Carvalho RLC, Rodrigues R, Albuquerque S, Mattos C, Silva C, Linhares A, Rodrigues T, Mariscal F, Morais MA, Presibella MM, Marques NFQ, Paiva A, Ribeiro K, Vieira D, da Silva Queiroz JA, Passos-Silva AM, Abdalla L, Santos JH, de Figueiredo RMP, Cruz ACR, Casseb LN, Chiang JO, Frutuoso LV, Rossi A, Freitas L, de Lima Campos T, Wallau GL, Moreira E, Lins Neto RD, Alexander LW, Sun Y, de Filippis AMB, Gräf T, Arantes I, Bento AI, Delatorre E, Bello G. Naveca FG, et al. Among authors: rossi a. Nat Med. 2024 Sep 18. doi: 10.1038/s41591-024-03300-3. Online ahead of print. Nat Med. 2024. PMID: 39293488
Multiple Myeloma Risk and Outcomes are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S, Subaran RL, Newman S, Lagana A, Melnekoff DT, Bodnar S, Ram M, Soens Z, Genthe W, Brander T, Mouhieddine TH, Van Oekelen O, Houldsworth J, Cho HJ, Richard S, Richter J, Rodriguez C, Rossi A, Sanchez L, Chari A, Moshier E, Jagannath S, Parekh S, Onel K. Thibaud S, et al. Among authors: rossi a. Blood Cancer Discov. 2024 Sep 16. doi: 10.1158/2643-3230.BCD-23-0208. Online ahead of print. Blood Cancer Discov. 2024. PMID: 39283238
7,129 results