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- Publisher Website: 10.1016/j.ajhg.2016.02.006
- Scopus: eid_2-s2.0-84959911385
- PMID: 26942290
- WOS: WOS:000372383100020
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Article: Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
| Title | Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis |
|---|---|
| Authors | |
| Issue Date | 2016 |
| Publisher | Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/ |
| Citation | American Journal of Human Genetics, 2016, v. 98 n. 3, p. 579-587 How to Cite? |
| Persistent Identifier | http://hdl.handle.net/10722/223863 |
| ISSN | 2023 Impact Factor: 8.1 2023 SCImago Journal Rankings: 4.516 |
| ISI Accession Number ID |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Bennett, JT | - |
| dc.contributor.author | Tan, TY | - |
| dc.contributor.author | Alcantara, D | - |
| dc.contributor.author | Tetrault, M | - |
| dc.contributor.author | Timms, AE | - |
| dc.contributor.author | Jensen, D | - |
| dc.contributor.author | Collins, S | - |
| dc.contributor.author | Nowaczyk, MJM | - |
| dc.contributor.author | Lindhurst, MJ | - |
| dc.contributor.author | Christensen, KM | - |
| dc.contributor.author | Braddock, SR | - |
| dc.contributor.author | Brandling-Bennett, H | - |
| dc.contributor.author | Hennekam, RCM | - |
| dc.contributor.author | Chung, BHY | - |
| dc.contributor.author | Lehman, A | - |
| dc.contributor.author | Su, J | - |
| dc.contributor.author | Ng, SY | - |
| dc.contributor.author | Amor, DJ | - |
| dc.contributor.author | Majewski, J | - |
| dc.contributor.author | Biesecker, LG | - |
| dc.contributor.author | Boycott, KM | - |
| dc.contributor.author | Dobyns, WB | - |
| dc.contributor.author | O'Driscoll, M | - |
| dc.contributor.author | Moog, U | - |
| dc.contributor.author | McDonell, LM | - |
| dc.date.accessioned | 2016-03-18T02:30:09Z | - |
| dc.date.available | 2016-03-18T02:30:09Z | - |
| dc.date.issued | 2016 | - |
| dc.identifier.citation | American Journal of Human Genetics, 2016, v. 98 n. 3, p. 579-587 | - |
| dc.identifier.issn | 0002-9297 | - |
| dc.identifier.uri | http://hdl.handle.net/10722/223863 | - |
| dc.language | eng | - |
| dc.publisher | Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/ | - |
| dc.relation.ispartof | American Journal of Human Genetics | - |
| dc.title | Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis | - |
| dc.type | Article | - |
| dc.identifier.email | Tan, TY: tanty@hku.hk | - |
| dc.identifier.email | Chung, BHY: bhychung@hku.hk | - |
| dc.identifier.authority | Tan, TY=rp01380 | - |
| dc.identifier.authority | Chung, BHY=rp00473 | - |
| dc.description.nature | link_to_OA_fulltext | - |
| dc.identifier.doi | 10.1016/j.ajhg.2016.02.006 | - |
| dc.identifier.pmid | 26942290 | - |
| dc.identifier.scopus | eid_2-s2.0-84959911385 | - |
| dc.identifier.hkuros | 257276 | - |
| dc.identifier.volume | 98 | - |
| dc.identifier.issue | 3 | - |
| dc.identifier.spage | 579 | - |
| dc.identifier.epage | 587 | - |
| dc.identifier.isi | WOS:000372383100020 | - |
| dc.publisher.place | United States | - |
| dc.identifier.issnl | 0002-9297 | - |