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The clinical spectrum of type IV collagen mutations.
Lemmink HH, Schröder CH, Monnens LA, Smeets HJ. Lemmink HH, et al. Among authors: smeets hj. Hum Mutat. 1997;9(6):477-99. doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9195222 Review.
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J. Paulussen AD, et al. Among authors: smeets ee, smeets hj. Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9. Eur J Hum Genet. 2010. PMID: 20531442 Free PMC article.
The transmission of OXPHOS disease and methods to prevent this.
Jacobs LJ, de Wert G, Geraedts JP, de Coo IF, Smeets HJ. Jacobs LJ, et al. Among authors: smeets hj. Hum Reprod Update. 2006 Mar-Apr;12(2):119-36. doi: 10.1093/humupd/dmi042. Epub 2005 Sep 30. Hum Reprod Update. 2006. PMID: 16199488 Review.
Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.
Jacobs LJ, de Coo IF, Nijland JG, Galjaard RJ, Los FJ, Schoonderwoerd K, Niermeijer MF, Geraedts JP, Scholte HR, Smeets HJ. Jacobs LJ, et al. Among authors: smeets hj. Mol Hum Reprod. 2005 Mar;11(3):223-8. doi: 10.1093/molehr/gah152. Epub 2005 Feb 11. Mol Hum Reprod. 2005. PMID: 15709156
Preimplantation genetic diagnosis of spinal muscular atrophy.
Dreesen JC, Bras M, de Die-Smulders C, Dumoulin JC, Cobben JM, Evers JL, Smeets HJ, Geraedts JP. Dreesen JC, et al. Among authors: smeets hj. Mol Hum Reprod. 1998 Sep;4(9):881-5. doi: 10.1093/molehr/4.9.881. Mol Hum Reprod. 1998. PMID: 9783849
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