Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
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| Title: | Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus. |
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| Authors: | Mikhalchuk, Kristina1 (AUTHOR) grstina@yandex.ru, Zabnenkova, Viktoria1 (AUTHOR), Braslavskaya, Svetlana1 (AUTHOR), Chukhrova, Alena1 (AUTHOR), Ryadninskaya, Nina1 (AUTHOR), Dadaly, Elena1 (AUTHOR), Rudenskaya, Galina1 (AUTHOR), Sharkova, Inna1 (AUTHOR), Anisimova, Inga1 (AUTHOR), Bessonova, Ludmila1 (AUTHOR), Mishina, Irina1 (AUTHOR), Repina, Svetlana1 (AUTHOR), Petukhova, Marina1 (AUTHOR), Sparber, Peter1 (AUTHOR), Kuchina, Anna1 (AUTHOR), Saushev, Dmitry1 (AUTHOR), Artemieva, Svetlana2 (AUTHOR), Kurbatov, Sergey3,4 (AUTHOR), Kanivets, Ilya5,6 (AUTHOR), Zarubina, Vera7 (AUTHOR) |
| Source: | Clinical Genetics. Jul2025, Vol. 108 Issue 1, p58-68. 11p. |
| 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: 186460328 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Mikhalchuk%2C+Kristina%22">Mikhalchuk, Kristina</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> grstina@yandex.ru</i><br /><searchLink fieldCode="AR" term="%22Zabnenkova%2C+Viktoria%22">Zabnenkova, Viktoria</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Braslavskaya%2C+Svetlana%22">Braslavskaya, Svetlana</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chukhrova%2C+Alena%22">Chukhrova, Alena</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ryadninskaya%2C+Nina%22">Ryadninskaya, Nina</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dadaly%2C+Elena%22">Dadaly, Elena</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rudenskaya%2C+Galina%22">Rudenskaya, Galina</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sharkova%2C+Inna%22">Sharkova, Inna</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Anisimova%2C+Inga%22">Anisimova, Inga</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bessonova%2C+Ludmila%22">Bessonova, Ludmila</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mishina%2C+Irina%22">Mishina, Irina</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Repina%2C+Svetlana%22">Repina, Svetlana</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Petukhova%2C+Marina%22">Petukhova, Marina</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sparber%2C+Peter%22">Sparber, Peter</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kuchina%2C+Anna%22">Kuchina, Anna</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Saushev%2C+Dmitry%22">Saushev, Dmitry</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Artemieva%2C+Svetlana%22">Artemieva, Svetlana</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kurbatov%2C+Sergey%22">Kurbatov, Sergey</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kanivets%2C+Ilya%22">Kanivets, Ilya</searchLink><relatesTo>5,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zarubina%2C+Vera%22">Zarubina, Vera</searchLink><relatesTo>7</relatesTo> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Clinical+Genetics%22">Clinical Genetics</searchLink>. Jul2025, Vol. 108 Issue 1, p58-68. 11p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=186460328 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.14714 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 11 StartPage: 58 Titles: – TitleFull: Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Mikhalchuk, Kristina – PersonEntity: Name: NameFull: Zabnenkova, Viktoria – PersonEntity: Name: NameFull: Braslavskaya, Svetlana – PersonEntity: Name: NameFull: Chukhrova, Alena – PersonEntity: Name: NameFull: Ryadninskaya, Nina – PersonEntity: Name: NameFull: Dadaly, Elena – PersonEntity: Name: NameFull: Rudenskaya, Galina – PersonEntity: Name: NameFull: Sharkova, Inna – PersonEntity: Name: NameFull: Anisimova, Inga – PersonEntity: Name: NameFull: Bessonova, Ludmila – PersonEntity: Name: NameFull: Mishina, Irina – PersonEntity: Name: NameFull: Repina, Svetlana – PersonEntity: Name: NameFull: Petukhova, Marina – PersonEntity: Name: NameFull: Sparber, Peter – PersonEntity: Name: NameFull: Kuchina, Anna – PersonEntity: Name: NameFull: Saushev, Dmitry – PersonEntity: Name: NameFull: Artemieva, Svetlana – PersonEntity: Name: NameFull: Kurbatov, Sergey – PersonEntity: Name: NameFull: Kanivets, Ilya – PersonEntity: Name: NameFull: Zarubina, Vera IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: Jul2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 108 – Type: issue Value: 1 Titles: – TitleFull: Clinical Genetics Type: main |
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