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Fresh Tissue Multi-omics Profiling Reveals Immune Classification and Suggests Immunotherapy Candidates for Conventional Chondrosarcoma 期刊论文
发表期刊: CLINICAL CANCER RESEARCH. 出版年: 2021, 卷号: 27, 期号: 23, 页码: 6543-6558
作者:  Li, Binghao;  Li, Guoqi;  Yan, Xiaobo;  Zhu, Dan;  Lin, Patrick P.;  Wang, Zenan;  Qu, Hao;  He, Xuexin;  Fu, Yanbiao;  Zhu, Xiuliang;  Lin, Peng;  Zhang, Jiangnan;  Li, Xiaoya;  Dai, Hui;  Chen, Huabiao;  Poznansky, Mark C.;  Lin, Nong;  Ye, Zhaoming
收藏  |  浏览/下载：11/0  |  提交时间：2022/02/12
Renown Institute for Health Innovation expands partnership with Gilead Sciences and Siemens Healthineers to offer ELF – Enhanced Liver Fibrosis testing for Nevada NASH study participants 科技资讯
发布日期: 2020
收藏  |  浏览/下载：10/0  |  提交时间：2021/01/10
Systems-level genetic patterns underlying disseminated coccidioidomycosis in humans 项目
项目编号: 1R21AI152394-01. 资助机构: US-NIH（美国国立卫生研究院）. 起止日期: 2020-2022
负责人:  LUSSIER, YVES A.
收藏  |  浏览/下载：5/0  |  提交时间：2021/08/12
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46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene 期刊论文
发表期刊: HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM. 出版年: 2019, 卷号: 18, 期号: 3, 页码: 315-320
作者:  Neocleous, Vassos;  Fanis, Pavlos;  Cinarli, Feride;  Kokotsis, Vasilis;  Oulas, Anastasios;  Toumba, Meropi;  Spyrou, George M.;  Phylactou, Leonidas A.;  Skordis, Nicos
收藏  |  浏览/下载：4/0  |  提交时间：2021/11/30
Primary amenorrhea  46XY  Gonadal dysgenesis  Desert hedgehog  DHH gene  
A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing 期刊论文
发表期刊: TURKISH JOURNAL OF HEMATOLOGY. 出版年: 2019, 卷号: 36, 期号: 1, 页码: 29-36
作者:  Karacan, Ilker;  Kucukkaya, Reyhan Diz;  Karakus, Fatma Nur;  Solakoglu, Seyhun;  Tolun, Aslihan;  Hancer, Veysel Sabri;  Turanli, Eda Tahir
收藏  |  浏览/下载：4/0  |  提交时间：2019/11/29
ATP6V0A2  Cutis laxa  Wound healing  Bleeding diathesis  Whole exome sequencing  
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability 期刊论文
发表期刊: PLOS ONE. 出版年: 2018, 卷号: 13, 期号: 11
作者:  McSherry, Megan;  Masih, Katherine E.;  Elcioglu, Nursel H.;  Celik, Pelin;  Balci, Ozge;  Cengiz, Filiz Basak;  Nunez, Daniella;  Sineni, Claire J.;  Seyhan, Serhat;  Kocaoglu, Defne;  Guo, Shengru;  Duman, Duygu;  Bademci, Guney;  Tekin, Mustafa
收藏  |  浏览/下载：8/0  |  提交时间：2019/11/29
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability 期刊论文
发表期刊: HUMAN GENETICS. 出版年: 2018, 卷号: 137, 期号: 9, 页码: 735-752
作者:  Santos-Cortez, Regie Lyn P.;  Khan, Valeed;  Khan, Falak Sher;  Mughal, Zaib-un-Nisa;  Chakchouk, Imen;  Lee, Kwanghyuk;  Rasheed, Memoona;  Hamza, Rifat;  Acharya, Anushree;  Ullah, Ehsan;  Saqib, Muhammad Arif Nadeem;  Abbe, Izoduwa;  Ali, Ghazanfar;  Hassan, Muhammad Jawad;  Khan, Saadullah;  Azeem, Zahid;  Ullah, Irfan;  Bamshad, Michael J.;  Nickerson, Deborah A.;  Schrauwen, Isabelle;  Ahmad, Wasim;  Ansar, Muhammad;  Leal, Suzanne M.
收藏  |  浏览/下载：5/0  |  提交时间：2019/11/29
Monoallelic and biallelic &ITCREB3L1 &ITvariant causes mild and severe osteogenesis imperfecta, respectively 期刊论文
发表期刊: GENETICS IN MEDICINE. 出版年: 2018, 卷号: 20, 期号: 4, 页码: 411-419
作者:  Keller, Rachel B.;  Tran, Thao T.;  Pyott, Shawna M.;  Pepin, Melanie G.;  Savarirayan, Ravi;  McGillivray, George;  Nickerson, Deborah A.;  Bamshad, Michael J.;  Byers, Peter H.
收藏  |  浏览/下载：3/0  |  提交时间：2019/11/29
bone  COPII  CREB3L1  OASIS  osteogenesis imperfecta  
A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations 期刊论文
发表期刊: CLINICAL ENDOCRINOLOGY. 出版年: 2017, 卷号: 87, 期号: 5, 页码: 539-544
作者:  Paris, Francoise;  Flatters, Delphine;  Caburet, Sandrine;  Legois, Berangere;  Servant, Nadege;  Lefebvre, Herve;  Sultan, Charles;  Veitia, Reiner A.
收藏  |  浏览/下载：8/0  |  提交时间：2019/11/29
46  XY DSD  desert hedgehog  DHH  disorders of sex development  gonadal dysgenesis  
Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma 期刊论文
发表期刊: HUMAN MOLECULAR GENETICS. 出版年: 2017, 卷号: 26, 期号: 18, 页码: 3630-3638
作者:  Protas, Meredith E.;  Weh, Eric;  Footz, Tim;  Kasberger, Jay;  Baraban, Scott C.;  Levin, Alex V.;  Katz, L. Jay;  Ritch, Robert;  Walter, Michael A.;  Semina, Elena V.;  Gould, Douglas B.
收藏  |  浏览/下载：6/0  |  提交时间：2019/11/29