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

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

PRKCI 的罕见变异导致 Van der Woude 综合征和皮周病的其他特征

Kelsey Robinson, Sunil K Singh, Rachel B Walkup, Dorelle V Fawwal, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, Wendy K Chung, David J Cutler, Michael P Epstein, Azeez Fashina, Brooklynn Gasser, Lord Jj Gowans, Jacqueline T Hecht, Lina Moreno Uribe, Daryl A Scott, Gary M Shaw, Ma

Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes

撒哈拉以南非洲人群中唇腭裂和马蹄内翻足表型的共存:全外显子组测序揭示多种综合征和基因相关

Lord J J Gowans ,Noura Al Dhaheri ,Mary Li ,Tamara Busch ,Solomon Obiri-Yeboah ,Alexander A Oti ,Daniel K Sabbah ,Fareed K N Arthur ,Waheed O Awotoye ,Azeez A Alade ,Peter Twumasi ,Pius Agbenorku ,Gyikua Plange-Rhule ,Thirona Naicker ,Peter Donkor ,Jeffrey C Murray ,Nara L M Sobreira ,Azeez Butali

SPECC1L regulates palate development downstream of IRF6

SPECC1L 调控 IRF6 下游的腭发育

Everett G Hall ,Luke W Wenger ,Nathan R Wilson ,Sraavya S Undurty-Akella ,Jennifer Standley ,Eno-Abasi Augustine-Akpan ,Youssef A Kousa ,Diana S Acevedo ,Jeremy P Goering ,Lenore Pitstick ,Nagato Natsume ,Shahnawaz M Paroya ,Tamara D Busch ,Masaaki Ito ,Akihiro Mori ,Hideto Imura ,Laura E Schultz-Rogers ,Eric W Klee ,Dusica Babovic-Vuksanovic ,Sarah A Kroc ,Wasiu L Adeyemo ,Mekonen A Eshete ,Bryan C Bjork ,Satoshi Suzuki ,Jeffrey C Murray ,Brian C Schutte ,Azeez Butali ,Irfan Saadi

Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation

Six2 调节 Pax9 表达、腭裂发生和颅面骨形成

Yan Yan Sweat, Mason Sweat, Maurisa Mansaray, Huojun Cao, Steven Eliason, Waisu L Adeyemo, Lord J J Gowans, Mekonen A Eshete, Deepti Anand, Camille Chalkley, Irfan Saadi, Salil A Lachke, Azeez Butali, Brad A Amendt