نتائج البحث

Estimating mutation rate and characterising single nucleotide de novo mutations in pigs.

• Authors : Rochus, Christina M.^1,2 (AUTHOR) ; Steensma, Marije J.¹ (AUTHOR) ; Bink, Marco C. A. M.³ (AUTHOR)

Subjects: *SINGLE nucleotide polymorphisms; *GENETIC variation; *LIFE sciences

• Source: Genetics Selection Evolution. 4/14/2025, Vol. 57 Issue 1, p1-10. 10p.

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Characterization and distribution of de novo mutations in the zebra finch.

• Authors : Liang, Xixi^1,2 (AUTHOR); Yang, Shuai^1,3 (AUTHOR); Wang, Daiping^1,3 (AUTHOR)

• Source: Communications Biology. 10/2/2024, Vol. 7 Issue 1, p1-13. 13p.

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Causal inference in integrative genomics: exploring de novo mutations and unravelling causal mechanisms via gene regulatory networks in developmental process

• Authors : Hwang, Seongwon

Subjects: whole genome sequencing; de novo mutation; statistical genetics

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Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease

• Authors : Mónica Lopes-Marques; Matthew Mort; João Carneiro

Subjects: De novo mutations (DNMs); Genetic disease; Development

• Source: Human Genomics, Vol 18, Iss 1, Pp 1-10 (2024)

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Paternal age, de novo mutations, and offspring health? New directions for an ageing problem

• Authors : Robert John Aitken

Subjects: Directions

• Source: Hum Reprod

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Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1

• Authors : Juan de Dios García‐Díaz; Javier Balsa‐Vázquez; Ana Rodríguez‐Villa

Subjects: Case Report

• Source: Pediatr Dermatol

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Investigation of the Frequency and Characteristic Features of De Novo Mutations in Clinical Exome Sequence Trio Samples.

• Authors : Koçak, Nadir¹ ; Torabi, Ali¹; Şanlıtürk, Batuhan¹

• Source: Journal of General Medicine / Genel Tıp Dergisi. nis2024, Vol. 34 Issue 2, p266-272. 7p.

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Parental Age and Severity of Non-Syndromic Orofacial Clefts: Relationship with De Novo Mutations

• Authors : Olawale ADAMSON; Abimbola OLADUGBA; Azeez ALADE

• Source: Nigerian Dental Journal. 32

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Multiple independent de novo mutations are associated with the development of schistosoma reflexum, a lethal syndrome in cattle

• Authors : Jacinto, J. G.P.; Häfliger, I. M.; Letko, A.

Subjects: Bovine; Dystocia; Haploinsufficiency

• Source: Jacinto , J G P , Häfliger , I M , Letko , A , Weber , J , Freick , M , Gentile , A , Drögemüller , C & Agerholm , J S 2024 , ' Multiple independent de

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Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects

• Authors : Qun Li; Lin Zhao; Yang Zeng

Subjects: Female infertility; De novo mutations; Reproductive pathways

• Source: Genome Biology, Vol 24, Iss 1, Pp 1-23 (2023)

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