NALCN channelopathies: distinguishing gain-of-function and loss-of-function mutations
EG Bend, Y Si, DA Stevenson, P Bayrak-Toydemir… - Neurology, 2016 - AAN Enterprises
Objective: To perform genotype–phenotype analysis in an infant with congenital
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
NALCN channelopathies
EG Bend, Y Si, DA Stevenson, P Bayrak-Toydemir… - Neurology, 2016 - cir.nii.ac.jp
NALCN channelopathies | 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 論文・データをさがす 大学図書館の本をさがす 日本の博士 …
] 詳細へ移動 検索フォームへ移動 論文・データをさがす 大学図書館の本をさがす 日本の博士 …
NALCN channelopathies
EG Bend, Y Si, DA Stevenson, P Bayrak-Toydemir… - …, 2016 - ingentaconnect.com
Objective: To perform genotype–phenotype analysis in an infant with congenital
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations
EG Bend, Y Si, DA Stevenson… - …, 2016 - pubmed.ncbi.nlm.nih.gov
Objective To perform genotype-phenotype analysis in an infant with congenital
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
[PDF][PDF] NALCN channelopathies
EG Bend - 2016 - jorgensen.biology.utah.edu
Objective: To perform genotype–phenotype analysis in an infant with congenital
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
[HTML][HTML] NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations
EG Bend, Y Si, DA Stevenson, P Bayrak-Toydemir… - Neurology, 2016 - ncbi.nlm.nih.gov
Objective: To perform genotype–phenotype analysis in an infant with congenital
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
EG Bend, Y Si, DA Stevenson, P Bayrak-Toydemir… - Neurology, 2016 - europepmc.org
Objective To perform genotype-phenotype analysis in an infant with congenital
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
EG Bend, Y Si, DA Stevenson, P Bayrak-Toydemir… - Neurology, 2016 - europepmc.org
Objective To perform genotype-phenotype analysis in an infant with congenital
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …