发文地区与机构
近年国家 / 地区发文量统计
| 国家 / 地区 | 发文量 |
|---|---|
| USA | 300 |
| GERMANY (FED REP GER) | 115 |
| France | 112 |
| Italy | 104 |
| England | 103 |
| Australia | 76 |
| Netherlands | 76 |
| Spain | 66 |
| Canada | 65 |
| CHINA MAINLAND | 64 |
近年机构发文量统计
| 机构 | 发文量 |
|---|---|
| INSTITUT NATIONAL DE LA SANTE ET DE LA ... | 79 |
| BAYLOR COLLEGE OF MEDICINE | 65 |
| UNIVERSITY OF CALIFORNIA SYSTEM | 57 |
| HARVARD UNIVERSITY | 56 |
| ASSISTANCE PUBLIQUE HOPITAUX PARIS (APH... | 47 |
| UNIVERSITY OF PENNSYLVANIA | 42 |
| UNIVERSITY OF LONDON | 41 |
| CIBER - CENTRO DE INVESTIGACION BIOMEDI... | 39 |
| CENTRE NATIONAL DE LA RECHERCHE SCIENTI... | 36 |
| UNIVERSITY OF MELBOURNE | 36 |
文章引用情况
1
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function2
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort3
Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder4
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-beta, hedgehog, and FGF signaling5
Mutation update of transcription factor genes FOXE HSF MAF, and PITX3 causing cataracts and other developmental ocular defects6
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females7
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A28
Exploring genetic modifiers of Gaucher disease: The next horizon9
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases10
TP63-truncating variants cause isolated premature ovarian insufficiency