Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
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| Title: | Expansion of NEUROD2 phenotypes to include developmental delay without seizures. |
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| Authors: | Mis EK; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Sega AG; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Signer RH; Department of Psychiatry & Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA., Cartwright T; Cortica, San Rafael, California, USA., Ji W; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Martinez-Agosto JA; Deparment of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA., Nelson SF; Department of Psychiatry & Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA.; Deparment of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA., Palmer CGS; Department of Psychiatry & Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.; Institute for Society and Genetics, University of California Los Angeles, Los Angeles, California, USA., Lee H; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA., Mitzelfelt T; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Konstantino M; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Jeffries L; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Marco E; Cortica, San Rafael, California, USA.; Pediatric Brain Center, University of California San Francisco, San Francisco, California, USA., Martin MG; Deparment of Pediatrics, University of California Los Angeles, Los Angeles, California, USA., Lakhani SA; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA. |
| Corporate Authors: | Undiagnosed Diseases Network |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1076-1080. Date of Electronic Publication: 2021 Jan 13. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33438828 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Expansion of NEUROD2 phenotypes to include developmental delay without seizures. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Mis+EK%22">Mis EK</searchLink>; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Sega+AG%22">Sega AG</searchLink>; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Signer+RH%22">Signer RH</searchLink>; Department of Psychiatry & Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Cartwright+T%22">Cartwright T</searchLink>; Cortica, San Rafael, California, USA.<br /><searchLink fieldCode="AU" term="%22Ji+W%22">Ji W</searchLink>; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Martinez-Agosto+JA%22">Martinez-Agosto JA</searchLink>; Deparment of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Nelson+SF%22">Nelson SF</searchLink>; Department of Psychiatry & Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA.; Deparment of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Palmer+CGS%22">Palmer CGS</searchLink>; Department of Psychiatry & Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.; Institute for Society and Genetics, University of California Los Angeles, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Mitzelfelt+T%22">Mitzelfelt T</searchLink>; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Konstantino+M%22">Konstantino M</searchLink>; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Jeffries+L%22">Jeffries L</searchLink>; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Khokha+MK%22">Khokha MK</searchLink>; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Marco+E%22">Marco E</searchLink>; Cortica, San Rafael, California, USA.; Pediatric Brain Center, University of California San Francisco, San Francisco, California, USA.<br /><searchLink fieldCode="AU" term="%22Martin+MG%22">Martin MG</searchLink>; Deparment of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Lakhani+SA%22">Lakhani SA</searchLink>; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22Undiagnosed+Diseases+Network%22">Undiagnosed Diseases Network</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1076-1080. <i>Date of Electronic Publication: </i>2021 Jan 13. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, N.I.H., Extramural – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33438828 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.62064 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1076 Titles: – TitleFull: Expansion of NEUROD2 phenotypes to include developmental delay without seizures. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Mis EK – PersonEntity: Name: NameFull: Sega AG – PersonEntity: Name: NameFull: Signer RH – PersonEntity: Name: NameFull: Cartwright T – PersonEntity: Name: NameFull: Ji W – PersonEntity: Name: NameFull: Martinez-Agosto JA – PersonEntity: Name: NameFull: Nelson SF – PersonEntity: Name: NameFull: Palmer CGS – PersonEntity: Name: NameFull: Lee H – PersonEntity: Name: NameFull: Mitzelfelt T – PersonEntity: Name: NameFull: Konstantino M – PersonEntity: Name: NameFull: Jeffries L – PersonEntity: Name: NameFull: Khokha MK – PersonEntity: Name: NameFull: Marco E – PersonEntity: Name: NameFull: Martin MG – PersonEntity: Name: NameFull: Lakhani SA IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2021 Apr Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 185 – Type: issue Value: 4 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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