文献
J-GLOBAL ID:202202277908720831
整理番号:22A0773833
SOX4の両対立遺伝子インフレーム欠失は発育遅延,低緊張症および知的障害と関連する【JST・京大機械翻訳】
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
著者 (10件):
Ghaffar Amama
(Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA)
,
Ghaffar Amama
(National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan)
,
Rasheed Faiza
(National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan)
,
Rashid Muhammad
(National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan)
,
van Bokhoven Hans
(Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands)
,
Ahmed Zubair M.
(Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA)
,
Ahmed Zubair M.
(Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA)
,
Riazuddin Sheikh
(Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan)
,
Riazuddin Saima
(Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA)
,
Riazuddin Saima
(Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA)
資料名:
European Journal of Human Genetics
(European Journal of Human Genetics)
巻:
30
号:
2
ページ:
243-247
発行年:
2022年
JST資料番号:
W4344A
ISSN:
1018-4813
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
ドイツ (DEU)
言語:
英語 (EN)