المؤلفون: Qian, Lydia, Scott, Nicola, Capell-Hattam, Isabelle, Draper, Eliza, Fenton, Nicole, Luu, Winnie, Sharpe, Laura, Brown, Andrew

المصدر: Journal of Lipid Research. 64(5)

مصطلحات موضوعية: C4-demethylation, MARCHF6, NSDHL, SC4MOL, cholesterol biosynthesis, cholesterol metabolism, lipids, molecular biology, posttranslational regulation, ubiquitin-proteasome system, Cricetinae, Animals, Humans, Sterols, Ubiquitin-Protein Ligases, CHO Cells, Cricetulus, Cholesterol, Phytosterols, Oxidoreductases, 3-Hydroxysteroid Dehydrogenases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8s62k5st
https://escholarship.org/content/qt8s62k5st/qt8s62k5st.pdf

المؤلفون: Fackler, Nathan, Zachary, Cameron, Kim, Dong Joo, Smith, Janellen, Sarpa, Hege Grande

المصدر: JAAD case reports. 4(10)

مصطلحات موضوعية: CHILD syndrome, CHILD, Congenital hemidysplasia with ichthyosiform nevus and limb defects, CNS, central nervous system, NSDHL, NAD(P) dependent steroid dehydrogenase-like gene, SHH, sonic hedgehog hormone, X-linked dominant, congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome, congenital nevus, erythema, genodermatosis, hemidysplasia, limb defect, scaling, CHILD, Congenital hemidysplasia with ichthyosiform nevus and limb defects, CNS, central nervous system, NSDHL, NAD(P) dependent steroid dehydrogenase-like gene, SHH, sonic hedgehog hormone

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8w34q4cp

المؤلفون: Panteliadis, Christos P.^Aff4

المساهمون: Panteliadis, Christos P., editor^Aff1, Benjamin, Ramsis, editor^Aff2, Hagel, Christian, editor^Aff3

المصدر: Neurocutaneous Disorders : A Clinical, Diagnostic and Therapeutic Approach. :383-388

المؤلفون: Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)

مصطلحات موضوعية: CHILD syndrome, chromosomal microarray analysis, NSDHL gene, recurrent spontaneous abortion, whole‐exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/29840741a5934e578d055b4607a03bb7

المؤلفون: Lulu Xie, Mingyu Liu, Mingyue Cai, Wensou Huang, Yongjian Guo, Licong Liang, Weiguo Cai, Jianxin Liu, Wei Liang, Yitong Tan, Miaoling Lai, Liteng Lin, Kangshun Zhu

المصدر: Biomedicine & Pharmacotherapy, Vol 159, Iss , Pp 114254- (2023)

مصطلحات موضوعية: Hepatocellular carcinoma, Immunotherapy, IFN-γ, TGF-β1, NSDHL, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0753332223000422; https://doaj.org/toc/0753-3322

URL الوصول: https://doaj.org/article/e08dc1a3c47a4c00af5b42fded7e0279

المؤلفون: Kim, Dong-Gyun, Cho, Sujin, Lee, Kyu-Yeon, Cheon, Seung-Ho, Yoon, Hye-Jin, Lee, Joo-Youn, Kim, Dongyoon, Shin, Kwang-Soo, Koh, Choong-Hyun, Koo, Ji Sung, Choi, Yuri, Lee, Hyung Ho, Oh, Yu-Kyoung, Jeong, Yoo-Seong, Chung, Suk-Jae, Baek, Moonkyu, Jung, Kwan-Young^{Aff4, Aff5}, Lim, Hyo Jin, Kim, Hyoun Sook, Park, Sung Jean, Lee, Jeong-Yeon, Lee, Sang Jae^Aff9, Lee, Bong-Jin^Aff1

المصدر: Cellular and Molecular Life Sciences. 78(1):207-225

المؤلفون: El-Darouti, Mohammad Ali^Aff3, Al-Ali, Faiza Mohamed^Aff4

المساهمون: El-Darouti, Mohammad Ali^Aff1, Al-Ali, Faiza Mohamed^Aff2

المصدر: Challenging Cases in Dermatology Volume 2 : Advanced Diagnoses and Management Tactics. :75-82

المؤلفون: D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: CHILD syndrome, X-linked dominant, NSDHL gene, Novel variant, Syndactyly, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01094-y; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/9d202b3238844f71ad11b471453386fa

المؤلفون: Ene‐Choo Tan, Shi Yun Chia, Khadijah Rafi’ee, Shan Xian Lee, Andrew Boon Eu Kwek, Sze Hwa Tan, Victor Weng Leong Ng, Heming Wei, Stephanie Koo, Ai Ling Koh, Mark Jean‐Aan Koh

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)

مصطلحات موضوعية: CHILD syndrome, ichthyosis, NSDHL, xanthoma, X‐linked dominant disorder, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/9ff545d71c494635b6a70afea3705743

المؤلفون: So-Hyun Yoon, Hoe Suk Kim, Ryong Nam Kim, So-Youn Jung, Bok Sil Hong, Eun Ji Kang, Han-Byoel Lee, Hyeong-Gon Moon, Dong-Young Noh, Wonshik Han

المصدر: BMC Cancer, Vol 20, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Breast cancer, NSDHL, Knockdown, Proliferation, Metastasis, Cholesterol, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12885-020-06840-2; https://doaj.org/toc/1471-2407

URL الوصول: https://doaj.org/article/c69cec96926f4ef58e6ce6d444a9667d