Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.
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| Title: | Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities. |
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| Authors: | Kakar N; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany.; Department for Biotechnology, FLS&I, BUITEMS, Quetta, Pakistan., Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Ali A; Department of Biological and Biomedical Science, The Aga Khan University, Stadium Road, Karachi, 78400, Pakistan., Azmatullah; Department of Zoology, Human Genetics Program, Quaid-i-Azam University, Islamabad, Pakistan., Ijlal Haider SM; Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany., Badiger VA; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Ghofrani MS; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany., Kruse N; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany., Hashmi SN; Department of Biological and Biomedical Science, The Aga Khan University, Stadium Road, Karachi, 78400, Pakistan., Pozojevic J; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany., Balachandran S; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany., Toft M; Institute of Clinical Medicine, University of Oslo, P.O Box 1171, 0318, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Nydalen, P.O. Box 4950, 0424, Oslo, Norway., Malik S; Department of Zoology, Human Genetics Program, Quaid-i-Azam University, Islamabad, Pakistan., Händler K; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany., Fatima A; Department of Biological and Biomedical Science, The Aga Khan University, Stadium Road, Karachi, 78400, Pakistan., Iqbal Z; Department of Neurology, Oslo University Hospital, Nydalen, P.O. Box 4950, 0424, Oslo, Norway., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Spielmann M; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany. malte.spielmann@uksh.de., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India. p.radhakrishnan@manipal.edu. |
| Source: | Human genetics [Hum Genet] 2025 Jan; Vol. 144 (1), pp. 55-65. Date of Electronic Publication: 2024 Dec 21. |
| Publication Type: | Journal Article |
| 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39708122 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kakar+N%22">Kakar N</searchLink>; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany.; Department for Biotechnology, FLS&I, BUITEMS, Quetta, Pakistan.<br /><searchLink fieldCode="AU" term="%22Mascarenhas+S%22">Mascarenhas S</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.<br /><searchLink fieldCode="AU" term="%22Ali+A%22">Ali A</searchLink>; Department of Biological and Biomedical Science, The Aga Khan University, Stadium Road, Karachi, 78400, Pakistan.<br /><searchLink fieldCode="AU" term="%22Azmatullah%22">Azmatullah</searchLink>; Department of Zoology, Human Genetics Program, Quaid-i-Azam University, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ijlal+Haider+SM%22">Ijlal Haider SM</searchLink>; Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Badiger+VA%22">Badiger VA</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.<br /><searchLink fieldCode="AU" term="%22Ghofrani+MS%22">Ghofrani MS</searchLink>; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Kruse+N%22">Kruse N</searchLink>; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Hashmi+SN%22">Hashmi SN</searchLink>; Department of Biological and Biomedical Science, The Aga Khan University, Stadium Road, Karachi, 78400, Pakistan.<br /><searchLink fieldCode="AU" term="%22Pozojevic+J%22">Pozojevic J</searchLink>; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Balachandran+S%22">Balachandran S</searchLink>; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Toft+M%22">Toft M</searchLink>; Institute of Clinical Medicine, University of Oslo, P.O Box 1171, 0318, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Nydalen, P.O. Box 4950, 0424, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Malik+S%22">Malik S</searchLink>; Department of Zoology, Human Genetics Program, Quaid-i-Azam University, Islamabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Händler+K%22">Händler K</searchLink>; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Fatima+A%22">Fatima A</searchLink>; Department of Biological and Biomedical Science, The Aga Khan University, Stadium Road, Karachi, 78400, Pakistan.<br /><searchLink fieldCode="AU" term="%22Iqbal+Z%22">Iqbal Z</searchLink>; Department of Neurology, Oslo University Hospital, Nydalen, P.O. Box 4950, 0424, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Shukla+A%22">Shukla A</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.<br /><searchLink fieldCode="AU" term="%22Spielmann+M%22">Spielmann M</searchLink>; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany. malte.spielmann@uksh.de.<br /><searchLink fieldCode="AU" term="%22Radhakrishnan+P%22">Radhakrishnan P</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India. p.radhakrishnan@manipal.edu. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2025 Jan; Vol. 144 (1), pp. 55-65. <i>Date of Electronic Publication: </i>2024 Dec 21. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – 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=39708122 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-024-02718-6 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 55 Titles: – TitleFull: Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kakar N – PersonEntity: Name: NameFull: Mascarenhas S – PersonEntity: Name: NameFull: Ali A – PersonEntity: Name: NameFull: Azmatullah – PersonEntity: Name: NameFull: Ijlal Haider SM – PersonEntity: Name: NameFull: Badiger VA – PersonEntity: Name: NameFull: Ghofrani MS – PersonEntity: Name: NameFull: Kruse N – PersonEntity: Name: NameFull: Hashmi SN – PersonEntity: Name: NameFull: Pozojevic J – PersonEntity: Name: NameFull: Balachandran S – PersonEntity: Name: NameFull: Toft M – PersonEntity: Name: NameFull: Malik S – PersonEntity: Name: NameFull: Händler K – PersonEntity: Name: NameFull: Fatima A – PersonEntity: Name: NameFull: Iqbal Z – PersonEntity: Name: NameFull: Shukla A – PersonEntity: Name: NameFull: Spielmann M – PersonEntity: Name: NameFull: Radhakrishnan P IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2025 Jan Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1432-1203 Numbering: – Type: volume Value: 144 – Type: issue Value: 1 Titles: – TitleFull: Human genetics Type: main |
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