A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
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| Title: | A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism. |
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| Authors: | Pillar N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Pleniceanu O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Stem Cell Research Institute & Division of Pediatric Nephrology, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Fang M; BGI-Yunnan, Kunming, China., Ziv L; Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel., Lahav E; Pediatric Stem Cell Research Institute & Division of Pediatric Nephrology, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Botchan S; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Cheng L; BGI-Yunnan, Kunming, China. chengle@genomics.cn., Dekel B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Binyamin.Dekel@sheba.health.gov.il.; Pediatric Stem Cell Research Institute & Division of Pediatric Nephrology, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. Binyamin.Dekel@sheba.health.gov.il., Shomron N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. nshomron@post.tau.ac.il. |
| Source: | Human genetics [Hum Genet] 2017 Jul; Vol. 136 (7), pp. 835-845. Date of Electronic Publication: 2017 Apr 25. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 28444561 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Pillar+N%22">Pillar N</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Pleniceanu+O%22">Pleniceanu O</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Stem Cell Research Institute & Division of Pediatric Nephrology, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Fang+M%22">Fang M</searchLink>; BGI-Yunnan, Kunming, China.<br /><searchLink fieldCode="AU" term="%22Ziv+L%22">Ziv L</searchLink>; Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Lahav+E%22">Lahav E</searchLink>; Pediatric Stem Cell Research Institute & Division of Pediatric Nephrology, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Botchan+S%22">Botchan S</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Cheng+L%22">Cheng L</searchLink>; BGI-Yunnan, Kunming, China. chengle@genomics.cn.<br /><searchLink fieldCode="AU" term="%22Dekel+B%22">Dekel B</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Binyamin.Dekel@sheba.health.gov.il.; Pediatric Stem Cell Research Institute & Division of Pediatric Nephrology, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. Binyamin.Dekel@sheba.health.gov.il.<br /><searchLink fieldCode="AU" term="%22Shomron+N%22">Shomron N</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. nshomron@post.tau.ac.il. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2017 Jul; Vol. 136 (7), pp. 835-845. <i>Date of Electronic Publication: </i>2017 Apr 25. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28444561 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-017-1804-9 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 835 Titles: – TitleFull: A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pillar N – PersonEntity: Name: NameFull: Pleniceanu O – PersonEntity: Name: NameFull: Fang M – PersonEntity: Name: NameFull: Ziv L – PersonEntity: Name: NameFull: Lahav E – PersonEntity: Name: NameFull: Botchan S – PersonEntity: Name: NameFull: Cheng L – PersonEntity: Name: NameFull: Dekel B – PersonEntity: Name: NameFull: Shomron N IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2017 Jul Type: published Y: 2017 Identifiers: – Type: issn-electronic Value: 1432-1203 Numbering: – Type: volume Value: 136 – Type: issue Value: 7 Titles: – TitleFull: Human genetics Type: main |
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