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Year | Number of Results |
---|---|
1998 | 2 |
2000 | 1 |
2017 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 2137
5 results
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EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1.
J Exp Med. 2017.
PMID: 28148688
Free PMC article.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW.
Oud MM, et al.
Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26.
Am J Hum Genet. 2017.
PMID: 28132690
Free PMC article.
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Identification of a receptor for reg (regenerating gene) protein, a pancreatic beta-cell regeneration factor.
Kobayashi S, Akiyama T, Nata K, Abe M, Tajima M, Shervani NJ, Unno M, Matsuno S, Sasaki H, Takasawa S, Okamoto H.
Kobayashi S, et al.
J Biol Chem. 2000 Apr 14;275(15):10723-6. doi: 10.1074/jbc.275.15.10723.
J Biol Chem. 2000.
PMID: 10753861
Free article.
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Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.
Van Hul W, Wuyts W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Bossuyt P, Willems PJ.
Van Hul W, et al.
Genomics. 1998 Jan 15;47(2):230-7. doi: 10.1006/geno.1997.5101.
Genomics. 1998.
PMID: 9479495
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Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family.
Saito T, Seki N, Yamauchi M, Tsuji S, Hayashi A, Kozuma S, Hori T.
Saito T, et al.
Biochem Biophys Res Commun. 1998 Feb 4;243(1):61-6. doi: 10.1006/bbrc.1997.8062.
Biochem Biophys Res Commun. 1998.
PMID: 9473480
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