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- Publisher Website: 10.1186/s13229-017-0182-4
- Scopus: eid_2-s2.0-85038911255
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Article: Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
Title | Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism |
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Authors | |
Keywords | Autism spectrum disorder Developmental delay Macrocephaly Megalencephaly MTOR PIK3CA PPP2R5D PTEN Somatic mosaicism |
Issue Date | 2017 |
Publisher | BioMed Central Ltd. The Journal's web site is located at http://www.molecularautism.com |
Citation | Molecular Autism, 2017, v. 8, p. 66 How to Cite? |
Persistent Identifier | http://hdl.handle.net/10722/250541 |
ISSN | 2023 Impact Factor: 6.3 2023 SCImago Journal Rankings: 1.989 |
ISI Accession Number ID |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Yeung, KS | - |
dc.contributor.author | Tso, WYW | - |
dc.contributor.author | Ip, JKJ | - |
dc.contributor.author | MAK, CCY | - |
dc.contributor.author | Leung, KC | - |
dc.contributor.author | TSANG, HY | - |
dc.contributor.author | Ying, D | - |
dc.contributor.author | Pei, LCS | - |
dc.contributor.author | Lee, SL | - |
dc.contributor.author | Yang, W | - |
dc.contributor.author | Chung, BHY | - |
dc.date.accessioned | 2018-01-18T04:28:43Z | - |
dc.date.available | 2018-01-18T04:28:43Z | - |
dc.date.issued | 2017 | - |
dc.identifier.citation | Molecular Autism, 2017, v. 8, p. 66 | - |
dc.identifier.issn | 2040-2392 | - |
dc.identifier.uri | http://hdl.handle.net/10722/250541 | - |
dc.language | eng | - |
dc.publisher | BioMed Central Ltd. The Journal's web site is located at http://www.molecularautism.com | - |
dc.relation.ispartof | Molecular Autism | - |
dc.rights | Molecular Autism. Copyright © BioMed Central Ltd. | - |
dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.subject | Autism spectrum disorder | - |
dc.subject | Developmental delay | - |
dc.subject | Macrocephaly | - |
dc.subject | Megalencephaly | - |
dc.subject | MTOR | - |
dc.subject | PIK3CA | - |
dc.subject | PPP2R5D | - |
dc.subject | PTEN | - |
dc.subject | Somatic mosaicism | - |
dc.title | Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism | - |
dc.type | Article | - |
dc.identifier.email | Yeung, KS: ksyyeung@HKUCC-COM.hku.hk | - |
dc.identifier.email | Tso, WYW: wytso@hku.hk | - |
dc.identifier.email | Leung, KC: gleungkc@hku.hk | - |
dc.identifier.email | Ying, D: jonson@hku.hk | - |
dc.identifier.email | Pei, LCS: slcpei@hku.hk | - |
dc.identifier.email | Lee, SL: slleem@hku.hk | - |
dc.identifier.email | Yang, W: yangwl@hkucc.hku.hk | - |
dc.identifier.email | Chung, BHY: bhychung@hku.hk | - |
dc.identifier.authority | Tso, WYW=rp01517 | - |
dc.identifier.authority | Yang, W=rp00524 | - |
dc.identifier.authority | Chung, BHY=rp00473 | - |
dc.description.nature | published_or_final_version | - |
dc.identifier.doi | 10.1186/s13229-017-0182-4 | - |
dc.identifier.scopus | eid_2-s2.0-85038911255 | - |
dc.identifier.hkuros | 284027 | - |
dc.identifier.volume | 8 | - |
dc.identifier.spage | 66 | - |
dc.identifier.epage | 66 | - |
dc.identifier.isi | WOS:000418670200001 | - |
dc.publisher.place | United Kingdom | - |
dc.identifier.issnl | 2040-2392 | - |