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

Year Number of Results
1961 4
1962 1
1963 1
1966 2
1967 1
1968 1
1970 2
1971 2
1972 2
1973 3
1974 3
1975 7
1976 5
1977 4
1978 3
1979 8
1980 3
1981 5
1982 3
1983 4
1984 3
1985 2
1988 5
1989 3
1991 2
1992 4
1993 8
1995 2
1996 2
1997 1
1998 4
1999 2
2000 2
2001 1
2002 1
2003 4
2004 3
2005 6
2006 5
2007 3
2008 4
2009 3
2010 3
2011 1
2012 3
2013 3
2014 4
2016 2
2018 1
2019 2
2021 0
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142 results
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Page 1
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ. McMillin MJ, et al. Among authors: leroy jg. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 Free PMC article.
Nonsyndromic microcephaly: an overview.
Leroy JG, Frías JL. Leroy JG, et al. Adv Pediatr. 2005;52:261-93. doi: 10.1016/j.yapd.2005.04.003. Adv Pediatr. 2005. PMID: 16124344 Review. No abstract available.
GNPTAB-Related Disorders.
Leroy JG, Cathey SS, Friez MJ. Leroy JG, et al. 2008 Aug 26 [updated 2019 Aug 29]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2008 Aug 26 [updated 2019 Aug 29]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301728 Free Books & Documents. Review.
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Kk C, Krishnan V 5th, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth JJ, Alves S, Coutinho F, Friez MJ, Pauli RM, Unger S, Superti-Furga A, Leroy JG, Cathey SS. Nampoothiri S, et al. Among authors: leroy jg. Clin Dysmorphol. 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249. Clin Dysmorphol. 2019. PMID: 30507725
Osteoporosis-pseudoglioma syndrome.
De Paepe A, Leroy JG, Nuytinck L, Meire F, Capoen J. De Paepe A, et al. Among authors: leroy jg. Am J Med Genet. 1993 Jan 1;45(1):30-7. doi: 10.1002/ajmg.1320450110. Am J Med Genet. 1993. PMID: 8418655
XYLT1 mutations in Desbuquois dysplasia type 2.
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V. Bui C, et al. Among authors: leroy jg. Am J Hum Genet. 2014 Mar 6;94(3):405-14. doi: 10.1016/j.ajhg.2014.01.020. Epub 2014 Feb 27. Am J Hum Genet. 2014. PMID: 24581741 Free PMC article.
Blomstrand lethal osteochondrodysplasia.
Leroy JG, Keersmaeckers G, Coppens M, Dumon JE, Roels H. Leroy JG, et al. Am J Med Genet. 1996 May 3;63(1):84-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<84::AID-AJMG17>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723092
I-cell disease: biochemical studies.
Leroy JG, Ho MW, MacBrinn MC, Zielke K, Jacob J, O'Brien JS. Leroy JG, et al. Pediatr Res. 1972 Oct;6(10):752-7. doi: 10.1203/00006450-197210000-00002. Pediatr Res. 1972. PMID: 4346288 No abstract available.
142 results
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