P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425013184 |
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| _version_ | 1849713257593438208 |
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| author | Joshua Lowry Zinayida Schlachetzki Brendan Burns Ajay Varadarajan Brittany Thomas Richard Wang Evgenii Chekalin Jon Albay Marwan Shinawi Dorothy Grange Ryan Taft Denise Perry Akanchha Kesari |
| author_facet | Joshua Lowry Zinayida Schlachetzki Brendan Burns Ajay Varadarajan Brittany Thomas Richard Wang Evgenii Chekalin Jon Albay Marwan Shinawi Dorothy Grange Ryan Taft Denise Perry Akanchha Kesari |
| author_sort | Joshua Lowry |
| collection | DOAJ |
| format | Article |
| id | doaj-art-c461df6174fd481c93ce2524952ba009 |
| institution | DOAJ |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-c461df6174fd481c93ce2524952ba0092025-08-20T03:14:00ZengElsevierGenetics in Medicine Open2949-77442025-01-01310327910.1016/j.gimo.2025.103279P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencingJoshua Lowry0Zinayida Schlachetzki1Brendan Burns2Ajay Varadarajan3Brittany Thomas4Richard Wang5Evgenii Chekalin6Jon Albay7Marwan Shinawi8Dorothy Grange9Ryan Taft10Denise Perry11Akanchha Kesari12Illumina, Inc.Illumina, Inc.Illumina, Inc.Illumina, Inc.Illumina, Inc.Illumina, Inc.Illumina, Inc.Illumina, Inc.Washington University School of MedicineWashington University School of MedicineIllumina, Inc.Illumina, Inc.Illumina, Inc.http://www.sciencedirect.com/science/article/pii/S2949774425013184 |
| spellingShingle | Joshua Lowry Zinayida Schlachetzki Brendan Burns Ajay Varadarajan Brittany Thomas Richard Wang Evgenii Chekalin Jon Albay Marwan Shinawi Dorothy Grange Ryan Taft Denise Perry Akanchha Kesari P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing Genetics in Medicine Open |
| title | P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing |
| title_full | P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing |
| title_fullStr | P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing |
| title_full_unstemmed | P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing |
| title_short | P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing |
| title_sort | p412 an atypical case of pseudohypoparathyroidism 1b due to uniparental hetero and isodisomy detected by genome sequencing |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425013184 |
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