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Q

Qianyi Ma

university of chinese academy of sciences, cas
H指数:16
被引数:2,016

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Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment

隐性变异位于NOS1AP-C1orf226基因间区位点，可导致对蛋白尿抑制治疗有反应的单基因肾脏病。

Nature Communications
IF15.7
2025-11-270
OAAI
Florian Buerger; Daanya Salmanullah; Lorrin Liang; Victoria Gauntner; Kavita Krueger; Jiansong Qi; Josee Normand; Vineeta Sharma; Arathi Ranga; Alexander Rubin; David Ball; Sunwoo Hong; Katharina Lemberg; Ken Saida; Lea Maria Merz; Sanja Sever; Biju Issac; Qianyi Ma; Liang Sun; Anja M. Billing; Fatih Demir; Markus M. Rinschen; Björn Reusch; Bodo B. Beck; Sergio Guerrero-Castillo; Alexis C. Gomez; Michelle T. McNulty; Matthew G. Sampson; Mohamed H. Al-Hamed; Mohammed M. Saleh; Mohamed A. Shalaby; Jameela A. Kari; James P. Fawcett; Friedhelm Hildebrandt; Amar J. Majmundar
Real-Time Probing of Morphological Evolution and Recrystallization During Solvent Annealing in Blade-Coated All-Polymer Organic Solar Cells Using In Situ X-Ray Scattering

使用原位X射线散射技术实时探查刮刀涂覆的全聚合物有机太阳能电池在溶剂退火过程中形貌演化和再结晶过程

Advanced Science
IF14.1
2025-06-230
OAAI
Jialiang Hao; Yang Feng; Qianyi Ma; Hongxiang Li; Chunxia Hong; Chen Hou; Ying Wang; Yang Jing; Yiwen Li; Guangfeng Liu; Xiuhong Li; Aiguo Li; Fenggang Bian; Ruijie Ma; Yuanyang Wang; Yuying Huang; Chunming Yang
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-08-0128
OAAI
Gergics, Peter; Smith, Cathy; Bando, Hironori; Jorge, Alexander A. L.; Rockstroh-Lippold, Denise; Vishnopolska, Sebastian A.; Castinetti, Frederic; Maksutova, Mariam; Silveira Carvalho, Luciani Renata; Hoppmann, Julia; Mayer, Julian Martinez; Albarel, Frederique; Braslavsky, Debora; Keselman, Ana; Bergada, Ignacio; Marti, Marcelo A.; Saveanu, Alexandru; Barlier, Anne; Abou Jamra, Rami; Guo, Michael H.; Dauber, Andrew; Nakaguma, Marilena; Mendonca, Berenice B.; Jayakody, Sajini N.; Ozel, A. Bilge; Fang, Qing; Ma, Qianyi; Li, Jun Z.; Brue, Thierry; Millan, Maria Ines Perez; Arnhold, Ivo J. P.; Pfaeffle, Roland; Kitzman, Jacob O.; Camper, Sally A.
The phenotypic spectrum associated with OTX2 mutations in humans
EUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
2021-07-0123
OAAI
Gregory, Louise C.; Gergics, Peter; Nakaguma, Marilena; Bando, Hironori; Patti, Giuseppa; McCabe, Mark J.; Fang, Qing; Ma, Qianyi; Ozel, Ayse Bilge; Li, Jun Z.; Poina, Michele Moreira; Jorge, Alexander A. L.; Benedetti, Anna F. Figueredo; Lerario, Antonio M.; Arnhold, Ivo J. P.; Mendonca, Berenice B.; Maghnie, Mohamad; Camper, Sally A.; Carvalho, Luciani R. S.; Dattani, Mehul T.

研究方向

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J
Jun Z. Li
H 指数:58论文数:226被引数:2.4万
S
Saher Sue Hammoud
H 指数:28论文数:90被引数:5,383
X
Xianing Zheng
H 指数:9论文数:20被引数:1,174
S
Stephen J. Gurczynski
H 指数:20论文数:55被引数:2,191
A
Adrienne Niederriter Shami
H 指数:8论文数:29被引数:1,159
E
Erica E. Marsh
H 指数:41论文数:289被引数:5,724
G
Gabriel Manske
H 指数:8论文数:18被引数:1,740
A
Ayse Bilge Ozel
H 指数:25论文数:74被引数:2,906
S
Sally A. Camper
H 指数:74论文数:323被引数:1.7万
B
Berenice B. Mendonça
H 指数:83论文数:1,201被引数:2.5万