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SpringerLink电子期刊(1667)

在“SpringerLink电子期刊”中，命中：1,667条，耗时：小于0.01 秒

在所有数据库中总计命中：1,667条

1. The relationship of nystagmus waveform on the VEP response in infantile nystagmus syndrome: a small case series

作者： John P. Kelly ; James O. Phillips ; Avery H. Weiss

关键词：Infantile nystagmus ; Visual evoked potentials ; Retinal image motion

刊名：Documenta Ophthalmologica

出版年：2017

2. Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene

作者： Peter Mudry ; Ondrej Slaby ; Jakub Neradil ; Jana Soukalova…

关键词：Infantile myofibromatosis ; Tyrosine kinase inhibitor ; PDGFR ; Chemotherapy ; Theranostics ; Case report

刊名：BMC Cancer

出版年：2017

3. Decreased sensitivity of palmitoyl protein thioesterase 1-deficient neurons to chemical anoxia

作者： Meredith Meyer ; Attila D. Kovács ; David A. Pearce

关键词：Infantile CLN1 disease ; Batten disease ; Ppt1−/− ; Palmitoyl protein thioesterase 1 ; Cerebellar granule neurons ; Cytochrome c oxidase

刊名：Metabolic Brain Disease

出版年：2017

4. Relative efficacy of nicotinamide treatment of a mouse model of infantile Niemann-Pick C1 disease

作者： Craig A. Marshall ; Ivan A. Borbon ; Robert P. Erickson

关键词：Histone deacetylase ; Nicotinamide ; Niemann ; Pick C1 disease ; Oxidative stress ; Sirtuin ; Valproic acid

刊名：Journal of Applied Genetics

出版年：2017

5. Supratentorial tumors typical of the infantile age: desmoplastic infantile ganglioglioma (DIG) and astrocytoma (DIA). A review

作者： F. Bianchi ; G. Tamburrini ; L. Massimi ; M. Caldarelli

关键词：Brain tumor ; Pediatric age ; Desmoplastic infantile ganglioglioma ; Desmoplastic infantile astrocytoma

刊名：Child's Nervous System

出版年：2016

6. Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

作者： Zahraa Haidar ; Ramzi Temanni ; Eliane Chouery ; Puthen Jithesh ; Wei Liu…

关键词：Juvenile hyaline fibromatosis ; Infantile systemic hyalinosis ; Hyaline fibromatosis syndrome ; Whole genome sequencing ; Anthrax toxin receptor 2 gene

刊名：BMC Genetics

出版年：2017

7. Role of Calcium-Independent Phospholipase A₂ VIA in Mediating Neurological Disorder and Cancer

作者： Chang Y. Chung ; Yu Shi ; Austin R. Surendranath…

关键词：Calcium ; independent phospholipase A2 ; Neurological disorders ; Memory acquisition ; Alzheimer’s disease ; Infantile neuroaxonal dystrophy ; Cancer

刊名：Transactions of Tianjin University

出版年：2017

8. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

作者： Tessa Wassenberg ; Marta Molero-Luis ; Kathrin Jeltsch…

关键词：Aromatic l ; amino acid decarboxylase deficiency ; AADC deficiency ; Neurotransmitter ; Dopamine ; Serotonin ; Guideline ; Infantile dystonia ; parkinsonism ; SIGN ; GRADE

刊名：Orphanet Journal of Rare Diseases

出版年：2017

9. Effects of Melatonin on the Cerebellum of Infant Rat Following Kaolin-Induced Hydrocephalus: a Histochemical and Immunohistochemical Study

作者： Yiğit Uyanıkgil ; Mehmet Turgut ; Meral Baka

关键词：Cerebellum ; Infant rat ; Kaolin ; induced hydrocephalus ; Melatonin

刊名：The Cerebellum

出版年：2017

10. Serum and Hair Mineral Levels in Children with Failure to Thrive According to the Type of Feeding Difficulties

作者： Eun Hye Lee ; Hye Ran Yang

关键词：Hair mineral ; Trace element ; Failure to thrive ; Feeding difficulty ; Child

刊名：Biological Trace Element Research

出版年：2017

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