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

Year Number of Results
1969 1
1981 2
1982 1
1983 2
1985 2
1986 2
1987 4
1988 4
1989 3
1990 7
1991 5
1992 2
1993 7
1994 12
1995 15
1996 18
1997 13
1998 24
1999 27
2000 19
2001 35
2002 21
2003 19
2004 29
2005 23
2006 22
2007 26
2008 19
2009 24
2010 25
2011 33
2012 29
2013 28
2014 22
2015 31
2016 39
2017 37
2018 31
2019 26
2020 9
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641 results
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Page 1
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham E, et al. Eur J Hum Genet 2016. Among authors: Nishimura G. PMID 25966638 Free PMC article.
A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. ...We studied two unrelated families including three affected fetuses with Gillessen-Kaesbach-Nishimura syndrome using whole-exome and Sanger sequencing, comparative genome hybridization and homozygosity mapping. ...
A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gil …
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