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Results by year

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

Year Number of Results
1967 1
1976 1
1978 2
1979 3
1980 4
1981 1
1982 4
1983 2
1984 4
1985 1
1986 1
1987 6
1988 2
1989 3
1990 5
1991 6
1992 7
1993 2
1994 4
1995 6
1996 3
1997 6
1998 4
1999 7
2000 3
2001 5
2002 3
2003 3
2004 2
2005 7
2006 6
2007 13
2008 8
2009 9
2010 10
2011 18
2012 18
2013 23
2014 22
2015 34
2016 26
2017 33
2018 35
2019 31
2020 45
2021 32
2022 12
2023 7
2024 9

Search Results

435 results

Results by year

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Page 1
MEGDEL Syndrome.
Finsterer J, Scorza FA, Fiorini AC, Scorza CA. Finsterer J, et al. Pediatr Neurol. 2020 Sep;110:25-29. doi: 10.1016/j.pediatrneurol.2020.03.009. Epub 2020 Jul 16. Pediatr Neurol. 2020. PMID: 32684373 Review.
Neonatal hypotonia.
Sparks SE. Sparks SE. Clin Perinatol. 2015 Jun;42(2):363-71, ix. doi: 10.1016/j.clp.2015.02.008. Clin Perinatol. 2015. PMID: 26042909 Review.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Thyroid Hormone Transporters.
Groeneweg S, van Geest FS, Peeters RP, Heuer H, Visser WE. Groeneweg S, et al. Endocr Rev. 2020 Apr 1;41(2):bnz008. doi: 10.1210/endrev/bnz008. Endocr Rev. 2020. PMID: 31754699 Review.
Commentary.
Tan WH. Tan WH. Clin Chem. 2015 Jan;61(1):54. doi: 10.1373/clinchem.2014.232934. Clin Chem. 2015. PMID: 25550476 No abstract available.
D-2-hydroxyglutaric aciduria.
Nyhan WL, Shelton GD, Jakobs C, Holmes B, Bowe C, Curry CJ, Vance C, Duran M, Sweetman L. Nyhan WL, et al. J Child Neurol. 1995 Mar;10(2):137-42. doi: 10.1177/088307389501000216. J Child Neurol. 1995. PMID: 7782605
Marching towards personalized genomic medicine.
Hegde MR. Hegde MR. J Pediatr. 2013 Jan;162(1):10-1. doi: 10.1016/j.jpeds.2012.09.046. Epub 2012 Nov 10. J Pediatr. 2013. PMID: 23149174 No abstract available.
435 results