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1959 1
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1992 1
2000 1
2002 3
2004 2
2005 2
2006 1
2007 2
2008 2
2009 3
2011 2
2012 3
2013 6
2014 6
2015 6
2016 9
2017 6
2018 8
2019 8
2020 5
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2022 8
2023 10
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The following term was not found in PubMed: Nikulski
Page 1
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
Elevated markers of DNA damage and senescence are associated with the progression of albuminuria and restrictive lung disease in patients with type 2 diabetes.
Varun K, Zoltan K, Alba S, Manuel B, Elisabeth K, Dimitrios T, Jan B G, Maik B, Khurrum S, Berend I, Stephen H, Thomas F, Julia S, Peter N, Stefan K. Varun K, et al. Among authors: julia s. EBioMedicine. 2023 Apr;90:104516. doi: 10.1016/j.ebiom.2023.104516. Epub 2023 Mar 17. EBioMedicine. 2023. PMID: 36934657 Free PMC article.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: julia s. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.
Efficacy and safety of Obex® in overweight and obese subjects: a randomised, double-blind, placebo-controlled clinical trial.
Cabrera-Rode E, Cubas-Dueñas I, Acosta JR, Hernández JC, González AIC, Calero TMG, Domínguez YA, Rodríguez JH, Rodríguez ADR, Álvarez Álvarez A, Valdés RE, Espinosa LJ, Belent OT, Benavides ZB, Estévez ES, Rodríguez YA, Del Valle Rodríguez J, Juliá SM. Cabrera-Rode E, et al. Among authors: julia sm. BMC Complement Med Ther. 2023 Feb 20;23(1):58. doi: 10.1186/s12906-023-03847-7. BMC Complement Med Ther. 2023. PMID: 36804035 Free PMC article. Clinical Trial.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Aerden M, et al. Among authors: julia s. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747006 Free PMC article.
Performance evaluation of automated white matter hyperintensity segmentation algorithms in a multicenter cohort on cognitive impairment and dementia.
Gaubert M, Dell'Orco A, Lange C, Garnier-Crussard A, Zimmermann I, Dyrba M, Duering M, Ziegler G, Peters O, Preis L, Priller J, Spruth EJ, Schneider A, Fliessbach K, Wiltfang J, Schott BH, Maier F, Glanz W, Buerger K, Janowitz D, Perneczky R, Rauchmann BS, Teipel S, Kilimann I, Laske C, Munk MH, Spottke A, Roy N, Dobisch L, Ewers M, Dechent P, Haynes JD, Scheffler K, Düzel E, Jessen F, Wirth M; DELCODE study group. Gaubert M, et al. Front Psychiatry. 2023 Jan 12;13:1010273. doi: 10.3389/fpsyt.2022.1010273. eCollection 2022. Front Psychiatry. 2023. PMID: 36713907 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: julia s. 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.
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, Novelli A, Briuglia S, Kuismin O, Marcelis C, Vitobello A, Denommé-Pichon AS, Julia S, Lemke JR, Abou Jamra R, Platzer K. Luppe J, et al. Among authors: julia s. Eur J Hum Genet. 2023 Mar;31(3):345-352. doi: 10.1038/s41431-022-01269-6. Epub 2022 Dec 23. Eur J Hum Genet. 2023. PMID: 36564538 Free PMC article.
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