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Paleoenvironmental significance and provenance of the Cretaceous calcareous deposits from the Djerem sub-basin (Adamawa, Cameroon) during the Gondwana evolution: sedimentary structures and geochemical constraints 期刊论文
发表期刊: COMPTES RENDUS GEOSCIENCE. 出版年: 2021, 卷号: 353, 期号: 1
作者:  Tchouatcha, Milan Stafford;  Kouske, Arnaud Patrice;  Mioumnde, Arthur Paterne;  Deaf, Amr Said;  Ngnotue, Timoleon
收藏  |  浏览/下载：4/0  |  提交时间：2022/03/17
Calcareous deposits  Sedimentary structures  Geochemistry  Paleoenvironment  Provenance  Djerem sub-basin  Cameroon  
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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Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences 期刊论文
发表期刊: FRONTIERS IN GENETICS. 出版年: 2020, 卷号: 11
作者:  Manshaei, Roozbeh;  Merico, Daniele;  Reuter, Miriam S.;  Engchuan, Worrawat;  Mojarad, Bahareh A.;  Chaturvedi, Rajiv;  Heung, Tracy;  Pellecchia, Giovanna;  Zarrei, Mehdi;  Nalpathamkalam, Thomas;  Khan, Reem;  Okello, John B. A.;  Liston, Eriskay;  Curtis, Meredith;  Yuen, Ryan K. C.;  Marshall, Christian R.;  Jobling, Rebekah K.;  Oechslin, Erwin;  Wald, Rachel M.;  Silversides, Candice K.;  Scherer, Stephen W.;  Kim, Raymond H.;  Bassett, Anne S.
收藏  |  浏览/下载：3/0  |  提交时间：2021/01/07
tetralogy of fallot  heart disease  whole genome sequencing  NOTCH1  FLT4  rare variants  
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  
Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data 期刊论文
发表期刊: TRANSFUSION. 出版年: 2019, 卷号: 59, 期号: 2, 页码: 768-778
作者:  Schoeman, Elizna M.;  Roulis, Eileen, V;  Perry, Maree A.;  Flower, Robert L.;  Hyland, Catherine A.
收藏  |  浏览/下载：7/0  |  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
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review 期刊论文
发表期刊: HORMONE RESEARCH IN PAEDIATRICS. 出版年: 2018, 卷号: 89, 期号: 3, 页码: 141-149
作者:  Baldinotti, Fulvia;  Cavallaro, Tiziana;  Dati, Eleonora;  Baroncelli, Giampiero I.;  Bertini, Veronica;  Valetto, Angelo;  Massart, Francesco;  Fabrizi, Gian Maria;  Zanette, Giampietro;  Peroni, Diego;  Bertelloni, Silvano
收藏  |  浏览/下载：7/0  |  提交时间：2019/11/29
Disorders of sex development  Gonadal dysgenesis  Desert hedgehog gene  Peripheral minifascicular neuropathy  
Brain enhancer activities at the gene-poor 5p14.1 autism-associated locus 期刊论文
发表期刊: SCIENTIFIC REPORTS. 出版年: 2016, 卷号: 6
作者:  Inoue, Yukiko U.;  Inoue, Takayoshi
收藏  |  浏览/下载：4/0  |  提交时间：2019/11/29
Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus 期刊论文
发表期刊: GENOME RESEARCH. 出版年: 2012, 卷号: 22, 期号: 8, 页码: 1437-1446
作者:  Zhang, Xiaoyang;  Cowper-Sallari, Richard;  Bailey, Swneke D.;  Moore, Jason H.;  Lupien, Mathieu
收藏  |  浏览/下载：1/0  |  提交时间：2019/11/29
Neural correlates of subjective references in the primate pareital reach region 学位论文
学位授予机构: McGill University. 出版年: 2011
作者:  Rai Bhatti;Karan Singh
收藏  |  浏览/下载：3/0  |  提交时间：2019/11/29
Engineering - Electronics and Electrical