Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome.
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| Title: | Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome. |
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| Authors: | Filatova, Alexandra1, Freire, Valeria1, Bessonova, Ludmila1, Skoblov, Mikhail1,2, Lozier, Ekaterina3, Konovalov, Fedor3, Kanivets, Ilya3, Korostelev, Sergey3, Iudina, Elena3, Gnetetskaya, Valentina3 |
| Source: | Clinical Genetics. Mar2019, Vol. 95 Issue 3, p440-441. 2p. 1 Graph. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 134778397 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Filatova%2C+Alexandra%22">Filatova, Alexandra</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Freire%2C+Valeria%22">Freire, Valeria</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Bessonova%2C+Ludmila%22">Bessonova, Ludmila</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Skoblov%2C+Mikhail%22">Skoblov, Mikhail</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Lozier%2C+Ekaterina%22">Lozier, Ekaterina</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Konovalov%2C+Fedor%22">Konovalov, Fedor</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Kanivets%2C+Ilya%22">Kanivets, Ilya</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Korostelev%2C+Sergey%22">Korostelev, Sergey</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Iudina%2C+Elena%22">Iudina, Elena</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Gnetetskaya%2C+Valentina%22">Gnetetskaya, Valentina</searchLink><relatesTo>3</relatesTo> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Clinical+Genetics%22">Clinical Genetics</searchLink>. Mar2019, Vol. 95 Issue 3, p440-441. 2p. 1 Graph. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=134778397 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.13472 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 2 StartPage: 440 Titles: – TitleFull: Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Filatova, Alexandra – PersonEntity: Name: NameFull: Freire, Valeria – PersonEntity: Name: NameFull: Bessonova, Ludmila – PersonEntity: Name: NameFull: Skoblov, Mikhail – PersonEntity: Name: NameFull: Lozier, Ekaterina – PersonEntity: Name: NameFull: Konovalov, Fedor – PersonEntity: Name: NameFull: Kanivets, Ilya – PersonEntity: Name: NameFull: Korostelev, Sergey – PersonEntity: Name: NameFull: Iudina, Elena – PersonEntity: Name: NameFull: Gnetetskaya, Valentina IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: Mar2019 Type: published Y: 2019 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 95 – Type: issue Value: 3 Titles: – TitleFull: Clinical Genetics Type: main |
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