دورية أكاديمية
eP417: Exome sequencing unravels dual diagnoses and complex molecular etiologies in a family with prior negative diagnostic testing
| العنوان: | eP417: Exome sequencing unravels dual diagnoses and complex molecular etiologies in a family with prior negative diagnostic testing |
|---|---|
| المؤلفون: | Wheeler, Ferrin, Mosera, Mackenzie, Solem, Emily, Porath, Binu, Lee, Laura, Stricker, Thomas, Phillips, James, Phillips, John |
| المصدر: | Genetics in Medicine ; volume 24, issue 3, page S261-S262 ; ISSN 1098-3600 |
| بيانات النشر: | Elsevier BV |
| سنة النشر: | 2022 |
| المجموعة: | ScienceDirect (Elsevier - Open Access Articles via Crossref) |
| مصطلحات موضوعية: | Genetics (clinical) |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1016/j.gim.2022.01.452 |
| الإتاحة: | https://doi.org/10.1016/j.gim.2022.01.452Test https://api.elsevier.com/content/article/PII:S1098360022004695?httpAccept=text/xmlTest https://api.elsevier.com/content/article/PII:S1098360022004695?httpAccept=text/plainTest |
| حقوق: | https://www.elsevier.com/tdm/userlicense/1.0Test/ ; http://www.elsevier.com/open-access/userlicense/1.0Test/ |
| رقم الانضمام: | edsbas.404DFA3F |
| قاعدة البيانات: | BASE |
| ResultId |
1 |
|---|---|
| Header |
edsbas BASE edsbas.404DFA3F 947 3 Academic Journal academicJournal 947.047973632813 |
| PLink |
https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&scope=site&db=edsbas&AN=edsbas.404DFA3F&custid=s6537998&authtype=sso |
| FullText |
Array
(
[Availability] => 0
)
Array ( [0] => Array ( [Url] => https://doi.org/10.1016/j.gim.2022.01.452# [Name] => EDS - BASE [Category] => fullText [Text] => View record in BASE [MouseOverText] => View record in BASE ) ) |
| Items |
Array
(
[Name] => Title
[Label] => Title
[Group] => Ti
[Data] => eP417: Exome sequencing unravels dual diagnoses and complex molecular etiologies in a family with prior negative diagnostic testing
)
Array ( [Name] => Author [Label] => Authors [Group] => Au [Data] => <searchLink fieldCode="AR" term="%22Wheeler%2C+Ferrin%22">Wheeler, Ferrin</searchLink><br /><searchLink fieldCode="AR" term="%22Mosera%2C+Mackenzie%22">Mosera, Mackenzie</searchLink><br /><searchLink fieldCode="AR" term="%22Solem%2C+Emily%22">Solem, Emily</searchLink><br /><searchLink fieldCode="AR" term="%22Porath%2C+Binu%22">Porath, Binu</searchLink><br /><searchLink fieldCode="AR" term="%22Lee%2C+Laura%22">Lee, Laura</searchLink><br /><searchLink fieldCode="AR" term="%22Stricker%2C+Thomas%22">Stricker, Thomas</searchLink><br /><searchLink fieldCode="AR" term="%22Phillips%2C+James%22">Phillips, James</searchLink><br /><searchLink fieldCode="AR" term="%22Phillips%2C+John%22">Phillips, John</searchLink> ) Array ( [Name] => TitleSource [Label] => Source [Group] => Src [Data] => Genetics in Medicine ; volume 24, issue 3, page S261-S262 ; ISSN 1098-3600 ) Array ( [Name] => Publisher [Label] => Publisher Information [Group] => PubInfo [Data] => Elsevier BV ) Array ( [Name] => DatePubCY [Label] => Publication Year [Group] => Date [Data] => 2022 ) Array ( [Name] => Subset [Label] => Collection [Group] => HoldingsInfo [Data] => ScienceDirect (Elsevier - Open Access Articles via Crossref) ) Array ( [Name] => Subject [Label] => Subject Terms [Group] => Su [Data] => <searchLink fieldCode="DE" term="%22Genetics+%28clinical%29%22">Genetics (clinical)</searchLink> ) Array ( [Name] => TypeDocument [Label] => Document Type [Group] => TypDoc [Data] => article in journal/newspaper ) Array ( [Name] => Language [Label] => Language [Group] => Lang [Data] => English ) Array ( [Name] => DOI [Label] => DOI [Group] => ID [Data] => 10.1016/j.gim.2022.01.452 ) Array ( [Name] => URL [Label] => Availability [Group] => URL [Data] => https://doi.org/10.1016/j.gim.2022.01.452<br />https://api.elsevier.com/content/article/PII:S1098360022004695?httpAccept=text/xml<br />https://api.elsevier.com/content/article/PII:S1098360022004695?httpAccept=text/plain ) Array ( [Name] => Copyright [Label] => Rights [Group] => Cpyrght [Data] => https://www.elsevier.com/tdm/userlicense/1.0/ ; http://www.elsevier.com/open-access/userlicense/1.0/ ) Array ( [Name] => AN [Label] => Accession Number [Group] => ID [Data] => edsbas.404DFA3F ) |
| RecordInfo |
Array
(
[BibEntity] => Array
(
[Identifiers] => Array
(
[0] => Array
(
[Type] => doi
[Value] => 10.1016/j.gim.2022.01.452
)
)
[Languages] => Array
(
[0] => Array
(
[Text] => English
)
)
[Subjects] => Array
(
[0] => Array
(
[SubjectFull] => Genetics (clinical)
[Type] => general
)
)
[Titles] => Array
(
[0] => Array
(
[TitleFull] => eP417: Exome sequencing unravels dual diagnoses and complex molecular etiologies in a family with prior negative diagnostic testing
[Type] => main
)
)
)
[BibRelationships] => Array
(
[HasContributorRelationships] => Array
(
[0] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Wheeler, Ferrin
)
)
)
[1] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Mosera, Mackenzie
)
)
)
[2] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Solem, Emily
)
)
)
[3] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Porath, Binu
)
)
)
[4] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Lee, Laura
)
)
)
[5] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Stricker, Thomas
)
)
)
[6] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Phillips, James
)
)
)
[7] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Phillips, John
)
)
)
)
[IsPartOfRelationships] => Array
(
[0] => Array
(
[BibEntity] => Array
(
[Dates] => Array
(
[0] => Array
(
[D] => 01
[M] => 01
[Type] => published
[Y] => 2022
)
)
[Identifiers] => Array
(
[0] => Array
(
[Type] => issn-locals
[Value] => edsbas
)
[1] => Array
(
[Type] => issn-locals
[Value] => edsbas.oa
)
)
[Titles] => Array
(
[0] => Array
(
[TitleFull] => Genetics in Medicine ; volume 24, issue 3, page S261-S262 ; ISSN 1098-3600
[Type] => main
)
)
)
)
)
)
)
|
| IllustrationInfo |