日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Consensus-based Detection of Aetiologic Copy Number Variants For Syndromic Orofacial Clefts Utilising Whole Exome Sequencing of Case Parent Trios

利用病例父母三人组的全外显子组测序,基于共识检测综合征性唇腭裂的病因拷贝数变异

Quaynor, Samuel Kanor; Mensah, Gideon Okyere; Busch, Tamara; Tsri, Bruce; Obiri-Yeboah, Solomon; Sabbah, Daniel Kwesi; Agbenorku, Pius; Donkor, Peter; Butali, Azeez; Gowans, Lord Jephthah Joojo

Pharmacogenomics in Orofacial Clefts Care: Insights from Whole-Genome Sequencing of Case-Parents Trios

口面裂治疗中的药物基因组学:来自病例-父母三人组全基因组测序的启示

Poku-Adusei, Elvis; Mensah, Gideon Okyere; Asamoah, Christian Opoku; Tsri, Bruce; Akeeya, Hafsa; Danbaki, Abass Shaibu; Obiri-Yeboah, Solomon; Busch, Tamara D; Borquaye, Lawrence Sheringham; Donkor, Peter; Butali, Azeez; Gowans, Lord Jephthah Joojo

Pathogenic FANCC Variants Are Associated with Accessory Breasts in a Sub-Saharan African Multiplex Family

致病性FANCC变异与撒哈拉以南非洲多重家族的副乳相关

Danbaki, Abass Shaibu; Asamoah, Christian Opoku; Mensah, Gideon Okyere; Tsri, Bruce; Busch, Tamara D; Arthur, Fareed Kow Nanse; Kyei, Ishmael; Blay, Lawrence Kobina; Mensah, Samuel; Adeyemo, Adebowale A; Butali, Azeez; Donkor, Peter; Gowans, Lord Jephthah Joojo

Exploring the Nexus Between Alcohol Consumption, Sleep Deprivation, and Memory Among Male Students at a Tertiary Institution in Ghana

探究加纳某高等院校男学生饮酒、睡眠不足与记忆力之间的关系

Egbenya, Daniel L; Amponsah, Lord B; Nyame, Ireneaus; Rolinklaka, El-Gibbor C; Nanabin, Rose; Nyave, Lovinger M; Oppong, Stephen B G; Boadi, Jephthah K N; Edoh-Torgah, Dzifianu A; Mensah, Isaac B; Karikari, Akua A

Intersecting burdens: oral health, dietary patterns, food security and their impact on cardiometabolic risk and mental health in Ghana

相互交织的负担:口腔健康、饮食模式、粮食安全及其对加纳心血管代谢风险和心理健康的影响

Essiam, Fiifi Amoako A P; Amoako, Mary; Owusu, Emmanuel Kwadwo; Ogura, Evans; Hammond, Eunice Akosua Serwaa; Tijani, Ibrahim Ahmed; Wireko, Fredrick Asenso; Gowans, Lord Jephthah Joojo

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort

全外显子组测序揭示撒哈拉以南非洲人群中与伴有肢体异常的唇腭裂相关的遗传综合征

Tackie, Edna; Obiri-Yeboah, Solomon; Mensah, Gideon Okyere; Busch, Tamara D; Tsri, Bruce; Sabbah, Daniel Kwesi; Asamoah, Christian Opoku; Oti, Alexander Acheampong; Plange-Rhule, Gyikua; Adeyemo, Adebowale A; Donkor, Peter; Butali, Azeez; Gowans, Lord Jephthah Joojo

Disease-modifying therapies and hematological disorders: a systematic review of case reports and case series

疾病修饰疗法与血液系统疾病:病例报告和病例系列的系统评价

Scavone, Cristina; Liguori, Valerio; Adungba, Olusola Jephthah; Cesare, Daniele Di Giulio; Sullo, Maria Giuseppa; Andreone, Vincenzo; Sportiello, Liberata; Maniscalco, Giorgia Teresa; Capuano, Annalisa

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

AMOTL1基因中的一个突变热点定义了一种新的综合征,其特征为唇腭裂、心脏畸形和身材高大

Strong, Alanna; Rao, Soumya; von Hardenberg, Sandra; Li, Dong; Cox, Liza L; Lee, Paul C; Zhang, Li Q; Awotoye, Waheed; Diamond, Tamir; Gold, Jessica; Gooch, Catherine; Gowans, Lord Jephthah Joojo; Hakonarson, Hakon; Hing, Anne; Loomes, Kathleen; Martin, Nicole; Marazita, Mary L; Mononen, Tarja; Piccoli, David; Pfundt, Rolph; Raskin, Salmo; Scherer, Stephen W; Sobriera, Nara; Vaccaro, Courtney; Wang, Xiang; Watson, Deborah; Weksberg, Rosanna; Bhoj, Elizabeth; Murray, Jeffrey C; Lidral, Andrew C; Butali, Azeez; Buckley, Michael F; Roscioli, Tony; Koolen, David A; Seaver, Laurie H; Prows, Cynthia A; Stottmann, Rolf W; Cox, Timothy C

Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts

来自撒哈拉以南非洲130个非综合征性唇腭裂家庭的三联体中具有临床意义的次要发现

Oladayo, Abimbola; Gowans, Lord Jephthah Joojo; Awotoye, Waheed; Alade, Azeez; Busch, Tamara; Naicker, Thirona; Eshete, Mekonen A; Adeyemo, Wasiu L; Hetmanski, Jacqueline B; Zeng, Erliang; Adamson, Olawale; Adeleke, Chinyere; Li, Mary; Sule, Veronica; Kayali, Sami; Olotu, Joy; Mossey, Peter A; Obiri-Yeboah, Solomon; Buxo, Carmen J; Beaty, Terri; Taub, Margaret; Donkor, Peter; Marazita, Mary L; Odukoya, Oluwakemi; Adeyemo, Adebowale A; Murray, Jeffrey C; Prince, Anya; Butali, Azeez

Correction to "Spontaneous Formation of Cushioned Model Membranes Promoted by an Intrinsically Disordered Protein"

对“由固有无序蛋白促进的缓冲模型膜的自发形成”一文的更正

Gerelli, Yuri; Eriksson Skog, Amanda; Jephthah, Stephanie; Welbourn, Rebecca J L; Klechikov, Alexey; Skepö, Marie