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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1946 1
1948 3
1949 3
1950 1
1951 2
1952 4
1955 1
1957 1
1960 2
1962 1
1963 1
1964 1
1966 3
1967 2
1968 2
1969 3
1970 3
1971 2
1972 2
1973 4
1974 5
1975 5
1976 8
1977 3
1978 2
1979 4
1980 3
1981 2
1982 1
1983 2
1984 1
1985 12
1986 2
1987 9
1988 4
1989 3
1990 6
1991 3
1992 13
1993 9
1994 11
1995 14
1996 14
1997 9
1998 18
1999 9
2000 5
2001 15
2002 10
2003 8
2004 14
2005 11
2006 15
2007 18
2008 18
2009 17
2010 31
2011 24
2012 23
2013 41
2014 50
2015 45
2016 43
2017 46
2018 58
2019 42
2020 60
2021 77
2022 45
2023 60
2024 30

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906 results

Results by year

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Page 1
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine.
MacMullen LE, George-Sankoh I, Stanley K, McCormick EM, Muraresku CC, Goldstein A, Zolkipli-Cunningham Z, Falk MJ. MacMullen LE, et al. Among authors: falk mj. Mol Genet Metab. 2024 May;142(1):108348. doi: 10.1016/j.ymgme.2024.108348. Epub 2024 Feb 16. Mol Genet Metab. 2024. PMID: 38387305
Serious illness communication skills training for emergency physicians and advanced practice providers: a multi-method assessment of the reach and effectiveness of the intervention.
Adeyemi O, Ginsburg AD, Kaur R, Cuthel AM, Zhao N, Siman N, Goldfeld KS, Emlet LL, DiMaggio C, Yamarik RL, Bouillon-Minois JB, Chodosh J, Grudzen CR; PRIM-E. R. Investigators. Adeyemi O, et al. BMC Palliat Care. 2024 Feb 21;23(1):48. doi: 10.1186/s12904-024-01349-y. BMC Palliat Care. 2024. PMID: 38378532 Free PMC article.
906 results