Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …
coding genetic variants. However, patients with the same genetic defect can have different …
[PDF][PDF] Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi, HC Martin, DL Rice - Nature - academia.edu
There are thousands of rare human disorders caused by a single deleterious, proteincoding
genetic variant 1. However, patients with the same genetic defect can have different clinical …
genetic variant 1. However, patients with the same genetic defect can have different clinical …
[PDF][PDF] Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi - 2018 - core.ac.uk
In human medical genetics there exists a dichotomy between rare diseases, thought to be
caused by rare variants with large deleterious effects, and common diseases explained by …
caused by rare variants with large deleterious effects, and common diseases explained by …
[引用][C] Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon… - Nature, 2018 - cir.nii.ac.jp
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders | CiNii
Research CiNii 国立情報学研究所 学術情報ナビゲータ[サイニィ] 詳細へ移動 検索フォームへ移動 …
Research CiNii 国立情報学研究所 学術情報ナビゲータ[サイニィ] 詳細へ移動 検索フォームへ移動 …
[PDF][PDF] Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon… - scholar.archive.org
There are thousands of rare human disorders caused by a single deleterious, proteincoding
genetic variant 1. However, patients with the same genetic defect can have different clinical …
genetic variant 1. However, patients with the same genetic defect can have different clinical …
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon… - Nature, 2018 - europepmc.org
There are thousands of rare human disorders caused by a single deleterious, protein-coding
genetic variant 1. However, patients with the same genetic defect can have different clinical …
genetic variant 1. However, patients with the same genetic defect can have different clinical …
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi - 2018 - repository.cam.ac.uk
Most known genetic causes of severe childhood developmental disorders are rare,
deleterious, protein-coding changes that cause Mendelian disorders. Children with these …
deleterious, protein-coding changes that cause Mendelian disorders. Children with these …
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi, HC Martin, DL Rice, G Gallone… - 2018 - digital.library.adelaide.edu.au
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …
coding genetic variants. However, patients with the same genetic defect can have different …
[PDF][PDF] Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon… - 2018 - ore.exeter.ac.uk
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants1. However, patients with the same genetic defect can have different …
coding genetic variants1. However, patients with the same genetic defect can have different …
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi, HC Martin, DL Rice, G Gallone… - …, 2018 - research.sahmri.org.au
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants 1. However, patients with the same genetic defect can have different …
coding genetic variants 1. However, patients with the same genetic defect can have different …