التفاصيل البيبلوغرافية
العنوان:
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
المؤلفون:
Marie Bernkopf , Ummi B. Abdullah , Stephen J. Bush , Katherine A. Wood , Sahar Ghaffari , Eleni Giannoulatou , Nils Koelling , Geoffrey J. Maher , Loïc M. Thibaut , Jonathan Williams , Edward M. Blair , Fiona Blanco Kelly , Angela Bloss , Emma Burkitt-Wright , Natalie Canham , Alexander T. Deng , Abhijit Dixit , Jacqueline Eason , Frances Elmslie , Alice Gardham , Eleanor Hay , Muriel Holder , Tessa Homfray , Jane A. Hurst , Diana Johnson , Wendy D. Jones , Usha Kini , Emma Kivuva , Ajith Kumar , Melissa M. Lees , Harry G. Leitch , Jenny E. V. Morton , Andrea H. Németh , Shwetha Ramachandrappa , Katherine Saunders , Deborah J. Shears , Lucy Side , Miranda Splitt , Alison Stewart , Helen Stewart , Mohnish Suri , Penny Clouston , Robert W. Davies , Andrew O. M. Wilkie , Anne Goriely
المصدر:
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
بيانات النشر:
Nature Portfolio, 2023.
سنة النشر:
2023
المجموعة:
LCC:Science
مصطلحات موضوعية:
Science
الوصف:
PREGCARE is a new strategy for families who had a child with a pathogenic de novo mutation, that efficiently identifies couples at higher recurrence risk due to parental mosaicism, while reassuring many others that their recurrence risk is negligible.
نوع الوثيقة:
article
وصف الملف:
electronic resource
اللغة:
English
تدمد:
2041-1723
العلاقة:
https://doaj.org/toc/2041-1723Test
DOI:
10.1038/s41467-023-36606-w
الوصول الحر:
https://doaj.org/article/092225fc6615446f96c5855f1911ddeeTest
رقم الانضمام:
edsdoj.092225fc6615446f96c5855f1911ddee
قاعدة البيانات:
Directory of Open Access Journals
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