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

Year Number of Results
1926 1
1927 1
1928 2
1931 1
1933 1
1936 2
1938 1
1942 1
1949 2
1950 2
1951 2
1953 4
1954 1
1955 2
1957 1
1958 3
1961 1
1962 3
1964 1
1965 1
1966 1
1967 1
1968 2
1969 2
1970 3
1971 17
1972 11
1973 10
1974 10
1975 12
1976 5
1977 7
1978 6
1979 7
1980 6
1981 9
1982 11
1983 10
1984 17
1985 11
1986 25
1987 22
1988 20
1989 24
1990 29
1991 23
1992 15
1993 22
1994 22
1995 37
1996 21
1997 23
1998 13
1999 15
2000 22
2001 15
2002 15
2003 19
2004 22
2005 16
2006 28
2007 34
2008 19
2009 23
2010 27
2011 33
2012 35
2013 27
2014 21
2015 27
2016 35
2017 26
2018 41
2019 31
2020 33
2021 41
2022 38
2023 36
2024 29
2025 36

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1,163 results

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Page 1
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD co… See abstract for full author list ➔ Laurie S, et al. Among authors: sommer ak. Nat Med. 2025 Feb;31(2):478-489. doi: 10.1038/s41591-024-03420-w. Epub 2025 Jan 17. Nat Med. 2025. PMID: 39825153 Free PMC article.
ALT: A Multi-Faceted Phenomenon.
Sommer A, Royle NJ. Sommer A, et al. Genes (Basel). 2020 Jan 27;11(2):133. doi: 10.3390/genes11020133. Genes (Basel). 2020. PMID: 32012790 Free PMC article. Review.
Vitamin A deficiency and xerophthalmia.
Sommer A. Sommer A. Arch Ophthalmol. 1990 Mar;108(3):343-4. doi: 10.1001/archopht.1990.01070050041026. Arch Ophthalmol. 1990. PMID: 2310330 No abstract available.
A crystallin mutant cataract with mineral deposits.
Minogue PJ, Gao J, Mathias RT, Williams JC Jr, Bledsoe SB, Sommer AJ, Beyer EC, Berthoud VM. Minogue PJ, et al. Among authors: sommer aj. J Biol Chem. 2023 Aug;299(8):104935. doi: 10.1016/j.jbc.2023.104935. Epub 2023 Jun 17. J Biol Chem. 2023. PMID: 37331601 Free PMC article.
An Accidental Nutritionist.
Sommer A. Sommer A. Annu Rev Nutr. 2020 Sep 23;40:1-23. doi: 10.1146/annurev-nutr-111919-033415. Annu Rev Nutr. 2020. PMID: 32966182
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD co… See abstract for full author list ➔ Laurie S, et al. Among authors: sommer ak. Nat Med. 2025 Aug;31(8):2819-2820. doi: 10.1038/s41591-025-03754-z. Nat Med. 2025. PMID: 40537530 Free PMC article. No abstract available.
Early-wave macrophages control late hematopoiesis.
Monticelli S, Sommer A, AlHajj Hassan Z, Garcia Rodriguez C, Adé K, Cattenoz P, Delaporte C, Gomez Perdiguero E, Giangrande A. Monticelli S, et al. Among authors: sommer a. Dev Cell. 2024 May 20;59(10):1284-1301.e8. doi: 10.1016/j.devcel.2024.03.013. Epub 2024 Apr 2. Dev Cell. 2024. PMID: 38569551 Free article.
1,163 results