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

Year Number of Results
1941 1
1944 1
1945 2
1946 1
1947 5
1948 3
1949 4
1950 3
1951 2
1952 6
1953 2
1955 1
1956 3
1957 3
1958 1
1959 1
1963 1
1964 1
1965 4
1966 2
1967 2
1968 4
1969 1
1970 4
1971 2
1972 3
1973 4
1974 6
1975 1
1976 9
1977 4
1978 7
1979 5
1980 8
1981 5
1982 6
1983 9
1984 6
1985 4
1986 4
1987 6
1988 13
1989 4
1990 9
1991 3
1992 15
1993 7
1994 7
1995 4
1996 5
1997 6
1998 8
1999 4
2000 4
2001 4
2002 9
2003 12
2004 22
2005 11
2006 10
2007 18
2008 14
2009 4
2010 5
2011 7
2012 8
2013 5
2014 7
2015 3
2016 2
2017 6
2018 6
2019 4
2020 4
2021 1
2022 1
2023 1
2024 2
2025 6
2026 6

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Search Results

402 results

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Page 1
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA; American College of Medical Genetics and Genomics Therapeutics Committee. Vockley J, et al. Among authors: smith we. Genet Med. 2014 Feb;16(2):188-200. doi: 10.1038/gim.2013.157. Epub 2013 Oct 10. Genet Med. 2014. PMID: 24385074 Free article.
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Smith WE, Berry SA, Bloom K, Brown C, Burton BK, Demarest OM, Jenkins GP, Malinowski J, McBride KL, Mroczkowski HJ, Scharfe C, Vockley J; ACMG Board of Directors. Electronic address: documents@acmg.net. Smith WE, et al. Genet Med. 2025 Jan;27(1):101289. doi: 10.1016/j.gim.2024.101289. Epub 2024 Dec 4. Genet Med. 2025. PMID: 39630157 Free article.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Stankiewicz P, et al. Among authors: smith we. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. Hum Mutat. 2012. PMID: 21948486 Free PMC article.
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K, Smirnov D, Schlieben LD, Ganetzky R, Feichtinger RG, Jiang H, Fang F, Ebihara T, Murayama K, Ferrera G, Ardissone A, Rokicki D, Wesol-Kucharska D, Schröder S, Bauer P, Bertoli-Avella A, Østergaard E, Freisinger P, Janssen MCH, Wagner M, Abouyousef O, Alhaddad B, AlAbdi L, Alkuraya F, Alston CL, Baghdasaryan A, Barca D, Barić I, Bellusci M, Bevot A, Boltshauser E, Borggraefe I, Bouchereau J, Bruno C, Burnyte B, Calhoun A, Casas K, Coker M, Crushell E, De Lonlay P, Dionisi-Vici C, Distelmaier F, Falk MJ, Ferreira AC, Ferreira CR, Ficicioglu C, Gokçay GF, Häberle J, Heath O, Hellenschmidt A, Hoefele J, Hoffmann GF, Honzik T, Huemer M, Janeiro P, Karaa A, Kasapkara ÇS, Kern I, Klepper J, Klopstock T, Knerr I, Koch J, Krumina Z, Lamperti C, Lebigot E, Liu Z, Maier EM, Martinelli D, McFarland R, Mendelsohn B, Molnar MJ, Mundy H, Nassogne MC, Oliveira A, Õunap K, Panicucci C, Parikh S, Peters H, Pichard S, Plecko B, Ramadža DP, Repetto GM, Rivera I, Rodenburg RJ, Rossi A, Schiff M, Seidemann K, Smith WE, Soares S, Siri B, Steinbrucker K, Striano P, Sykut-Cegielska J, Tal G, Taylor RW, Tsiakas K, Kalkan Ucar S, Hoytema van Konijnenburg E, Woidy M, Yaplito-Lee J, Yild… See abstract for full author list ➔ Merkevicius K, et al. Among authors: smith we. Brain. 2026 Jul 7;149(7):2344-2362. doi: 10.1093/brain/awaf430. Brain. 2026. PMID: 41239557 Free PMC article.
Clinical pharmacist competencies.
American College of Clinical Pharmacy; Burke JM, Miller WA, Spencer AP, Crank CW, Adkins L, Bertch KE, Ragucci DP, Smith WE, Valley AW. American College of Clinical Pharmacy, et al. Among authors: smith we. Pharmacotherapy. 2008 Jun;28(6):806-15. doi: 10.1592/phco.28.6.806. Pharmacotherapy. 2008. PMID: 18503407 No abstract available.
Bone health and SATB2-associated syndrome.
Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS. Zarate YA, et al. Among authors: smith we. Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 28787087 Review.
Cervical rib.
POPPEN JL, KENDRICK JF, SMITH WE. POPPEN JL, et al. Among authors: smith we. Surg Clin North Am. 1950 Jun;30(3):843-51. doi: 10.1016/s0039-6109(16)33049-3. Surg Clin North Am. 1950. PMID: 15418455 No abstract available.
Response to Burgard et al.
Smith WE, Burton BK, Brown C, Malinowski J, McBride KL, Vockley J. Smith WE, et al. Genet Med. 2026 Jan;28(1):101601. doi: 10.1016/j.gim.2025.101601. Genet Med. 2026. PMID: 41511475 No abstract available.
Metabolic evaluation of the sick neonate.
Garganta CL, Smith WE. Garganta CL, et al. Among authors: smith we. Semin Perinatol. 2005 Jun;29(3):164-72. doi: 10.1053/j.semperi.2005.04.009. Semin Perinatol. 2005. PMID: 16114579 Review.
Cause of Cambrian Explosion - Terrestrial or Cosmic?
Steele EJ, Al-Mufti S, Augustyn KA, Chandrajith R, Coghlan JP, Coulson SG, Ghosh S, Gillman M, Gorczynski RM, Klyce B, Louis G, Mahanama K, Oliver KR, Padron J, Qu J, Schuster JA, Smith WE, Snyder DP, Steele JA, Stewart BJ, Temple R, Tokoro G, Tout CA, Unzicker A, Wainwright M, Wallis J, Wallis DH, Wallis MK, Wetherall J, Wickramasinghe DT, Wickramasinghe JT, Wickramasinghe NC, Liu Y. Steele EJ, et al. Among authors: smith we. Prog Biophys Mol Biol. 2018 Aug;136:3-23. doi: 10.1016/j.pbiomolbio.2018.03.004. Epub 2018 Mar 13. Prog Biophys Mol Biol. 2018. PMID: 29544820 Free article. Review.
402 results