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Year Number of Results
1972 1
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1980 7
1981 12
1982 12
1983 13
1984 13
1985 22
1986 14
1987 18
1988 19
1989 13
1990 14
1991 22
1992 17
1993 27
1994 19
1995 31
1996 22
1997 30
1998 32
1999 29
2000 45
2001 41
2002 41
2003 43
2004 42
2005 45
2006 49
2007 58
2008 59
2009 59
2010 52
2011 72
2012 69
2013 66
2014 92
2015 80
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2017 58
2018 81
2019 89
2020 93
2021 130
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2024 101

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2,003 results

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Page 1
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
BACKGROUND: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E. It was first described by O'Donnell-Luria et al in 2019 in a cohort of 38 patients. Clin …
BACKGROUND: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, …
DnaJC7 specifically regulates tau seeding.
Perez VA, Sanders DW, Mendoza-Oliva A, Stopschinski BE, Mullapudi V, White CL, Joachimiak LA, Diamond MI. Perez VA, et al. Elife. 2023 Jun 30;12:e86936. doi: 10.7554/eLife.86936. Elife. 2023. PMID: 37387473 Free PMC article.
Several large families of chaperone proteins, including Hsp70s and J domain proteins (JDPs), cooperate to regulate the folding of intracellular proteins such as tau, but the factors that coordinate this activity are not well known. ...DnaJC7 knockout decreased aggregate cl …
Several large families of chaperone proteins, including Hsp70s and J domain proteins (JDPs), cooperate to regulate the folding of int …
Fetal Programming and Public Policy.
Glover V, O'Connor TG, O'Donnell KJ. Glover V, et al. J Am Acad Child Adolesc Psychiatry. 2023 Jun;62(6):618-620. doi: 10.1016/j.jaac.2022.11.010. Epub 2023 Jan 3. J Am Acad Child Adolesc Psychiatry. 2023. PMID: 36608741
Novel functions for von Willebrand factor.
Atiq F, O'Donnell JS. Atiq F, et al. Blood. 2024 Sep 19;144(12):1247-1256. doi: 10.1182/blood.2023021915. Blood. 2024. PMID: 38728426 Review.
Generic concepts in Nectriaceae.
Lombard L, van der Merwe NA, Groenewald JZ, Crous PW. Lombard L, et al. Stud Mycol. 2015 Mar;80:189-245. doi: 10.1016/j.simyco.2014.12.002. Epub 2015 Jan 29. Stud Mycol. 2015. PMID: 26955195 Free PMC article.
Unraveling coagulation factor-mediated cellular signaling.
O'Donnell JS, Fleming H, Noone D, Preston RJS. O'Donnell JS, et al. J Thromb Haemost. 2023 Dec;21(12):3342-3353. doi: 10.1016/j.jtha.2023.06.019. Epub 2023 Jun 28. J Thromb Haemost. 2023. PMID: 37391097 Free article. Review.
Should we measure dyspnoea in everyone?
Banzett RB, O'Donnell CR. Banzett RB, et al. Eur Respir J. 2014 Jun;43(6):1547-50. doi: 10.1183/09031936.00031114. Eur Respir J. 2014. PMID: 24881053 Free PMC article.
Optical coherence elastography in ophthalmology.
Kirby MA, Pelivanov I, Song S, Ambrozinski Ł, Yoon SJ, Gao L, Li D, Shen TT, Wang RK, O'Donnell M. Kirby MA, et al. J Biomed Opt. 2017 Dec;22(12):1-28. doi: 10.1117/1.JBO.22.12.121720. J Biomed Opt. 2017. PMID: 29275544 Free PMC article. Review.
2,003 results