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

Year Number of Results
1978 1
1979 1
1982 1
1983 2
1984 2
1987 2
1988 1
1990 1
1994 1
1996 2
1998 2
1999 1
2001 2
2003 1
2004 1
2006 2
2007 3
2013 1
2016 2
2017 1
2022 0
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29 results
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Page 1
Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.
Picker-Minh S, Hartenstein S, Proquitté H, Fröhler S, Raile V, Kraemer N, Apeshiotis S, Leipoldt M, Kalache KD, Morris-Rosendahl D, Boltshauser E, Chen W, Kaindl AM. Picker-Minh S, et al. Among authors: leipoldt m. J Child Neurol. 2017 Mar;32(3):334-340. doi: 10.1177/0883073816680748. Epub 2016 Dec 20. J Child Neurol. 2017. PMID: 28193110 Review.
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J. Radner FP, et al. Among authors: leipoldt m. PLoS Genet. 2013 Jun;9(6):e1003536. doi: 10.1371/journal.pgen.1003536. Epub 2013 Jun 6. PLoS Genet. 2013. PMID: 23754960 Free PMC article.
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.
Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Mühlendyck H, Winter R, Giray O, Silan F, Kohlhase J. Borozdin W, et al. Among authors: leipoldt m. J Med Genet. 2004 Sep;41(9):e113. doi: 10.1136/jmg.2004.019901. J Med Genet. 2004. PMID: 15342710 Free PMC article. No abstract available.
29 results