P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S294977442400640X |
| _version_ | 1797267494356910080 |
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| author | Kevin Booth Sharayu Jangam Martin Man Chun Chui Kayla Treat Lorenzo Graziani Alessia Soldano Kerry White Celanie Christensen Ty Lynnes Shinya Yamamoto Oguz Kanca Mandy Tsang Sally Lynch Sureni Mullegama Julia Baptista Daniela Iancu Shelag Joss Christopher CY Mak Anna Kwong Hugo Bellen Erin Conboy Remo Sanges Michael F. Wangler Brian Hon-Yin Chung Francesco Vetrini |
| author_facet | Kevin Booth Sharayu Jangam Martin Man Chun Chui Kayla Treat Lorenzo Graziani Alessia Soldano Kerry White Celanie Christensen Ty Lynnes Shinya Yamamoto Oguz Kanca Mandy Tsang Sally Lynch Sureni Mullegama Julia Baptista Daniela Iancu Shelag Joss Christopher CY Mak Anna Kwong Hugo Bellen Erin Conboy Remo Sanges Michael F. Wangler Brian Hon-Yin Chung Francesco Vetrini |
| author_sort | Kevin Booth |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:17:29Z |
| format | Article |
| id | doaj.art-f55f71aa0f3040a5a34c8dbdffa4fbb9 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:17:29Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-f55f71aa0f3040a5a34c8dbdffa4fbb92024-03-09T09:32:49ZengElsevierGenetics in Medicine Open2949-77442024-01-012101494P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short statureKevin Booth0Sharayu Jangam1Martin Man Chun Chui2Kayla Treat3Lorenzo Graziani4Alessia Soldano5Kerry White6Celanie Christensen7Ty Lynnes8Shinya Yamamoto9Oguz Kanca10Mandy Tsang11Sally Lynch12Sureni Mullegama13Julia Baptista14Daniela Iancu15Shelag Joss16Christopher CY Mak17Anna Kwong18Hugo Bellen19Erin Conboy20Remo Sanges21Michael F. Wangler22Brian Hon-Yin Chung23Francesco Vetrini24Indiana University School of MedicineBaylor College of MedicineThe University of Hong Kong, HKIndiana University School of Medicine, Indianapolis, INScuola Internazionale Superiore di Studi Avanzati, Trieste, ItalyScuola Internazionale Superiore di Studi Avanzati, Trieste, ItalyIndiana University School of Medicine, Indianapolis, INRiley Developmental Pediatrics, Indianapolis, INIndiana University School of Medicine, Indianapolis, INDepartment of Molecular and Human Genetics, Baylor College of Medicine; Houston, TXDepartment of Molecular and Human Genetics, Baylor College of Medicine; Houston, TXThe University of Hong Kong, HKChildren’s Health Ireland, Crumlin, Dublin, Republic of IrelandGeneDx, Gaithersburg, MDUniversity of Plymouth, UKUniversity College London, UKQueen Elizabeth University Hospital, Glasgow, UKThe University of Hong Kong, HKThe University of Hong Kong, HKBaylor College of MedicineIndiana University School of MedicineScuola Internazionale Superiore di Studi Avanzati, Trieste, ItalyBaylor College of MedicineThe University of Hong Kong, HKIndiana University School of Medicine, Indianapolis, INhttp://www.sciencedirect.com/science/article/pii/S294977442400640X |
| spellingShingle | Kevin Booth Sharayu Jangam Martin Man Chun Chui Kayla Treat Lorenzo Graziani Alessia Soldano Kerry White Celanie Christensen Ty Lynnes Shinya Yamamoto Oguz Kanca Mandy Tsang Sally Lynch Sureni Mullegama Julia Baptista Daniela Iancu Shelag Joss Christopher CY Mak Anna Kwong Hugo Bellen Erin Conboy Remo Sanges Michael F. Wangler Brian Hon-Yin Chung Francesco Vetrini P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature Genetics in Medicine Open |
| title | P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature |
| title_full | P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature |
| title_fullStr | P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature |
| title_full_unstemmed | P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature |
| title_short | P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature |
| title_sort | p588 de novo and inherited variants in ddx39b cause a novel neurodevelopmental syndrome characterized by hypotonia epilepsy and short stature |
| url | http://www.sciencedirect.com/science/article/pii/S294977442400640X |
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