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 |
|---|---|
| Italy | 23 |
| USA | 19 |
| GERMANY (FED REP GER) | 10 |
| CHINA MAINLAND | 8 |
| France | 8 |
| Japan | 8 |
| Israel | 7 |
| Austria | 6 |
| Netherlands | 6 |
| Spain | 5 |
近年机构发文量统计
| 机构 | 发文量 |
|---|---|
| IRCCS FONDAZIONE STELLA MARIS | 8 |
| UNIVERSITY OF GENOA | 6 |
| IRCCS BAMBINO GESU | 5 |
| UNIVERSITY OF NAPLES FEDERICO II | 5 |
| ASSISTANCE PUBLIQUE HOPITAUX PARIS (APH... | 4 |
| INSTITUT NATIONAL DE LA SANTE ET DE LA ... | 4 |
| SORBONNE UNIVERSITE | 4 |
| UNIVERSITY OF MILAN | 4 |
| BOSTON CHILDREN'S HOSPITAL | 3 |
| CHILDRENS HOSPITAL OF PHILADELPHIA | 3 |
文章引用情况
1
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder2
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression3
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 124
Defective mitochondrial ATPase due to rare mtDNA m.8969G > A mutation-causing lactic acidosis, intellectual disability, and poor growth5
The contribution of 7q33 copy number variations for intellectual disability6
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing7
Truncating biallelic variant in DNAJA encoding the co-chaperone Hsp is associated with intellectual disability and seizures8
Rs10230207 genotype confers changes in HDAC9 and TWIST but not FERD3L in lymphoblasts from patients with intracranial aneurysm9
Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations10
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1