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標(biāo)題: Titlebook: Inherited Retinal Disease; Hyeong-Gon Yu Book 2022 Springer Nature Singapore Pte Ltd. 2022 Inherited retinal disease.retinitis pigmentosa. [打印本頁(yè)]

作者: 淺吟低唱    時(shí)間: 2025-3-21 16:21
書(shū)目名稱Inherited Retinal Disease影響因子(影響力)




書(shū)目名稱Inherited Retinal Disease影響因子(影響力)學(xué)科排名




書(shū)目名稱Inherited Retinal Disease網(wǎng)絡(luò)公開(kāi)度




書(shū)目名稱Inherited Retinal Disease網(wǎng)絡(luò)公開(kāi)度學(xué)科排名




書(shū)目名稱Inherited Retinal Disease被引頻次




書(shū)目名稱Inherited Retinal Disease被引頻次學(xué)科排名




書(shū)目名稱Inherited Retinal Disease年度引用




書(shū)目名稱Inherited Retinal Disease年度引用學(xué)科排名




書(shū)目名稱Inherited Retinal Disease讀者反饋




書(shū)目名稱Inherited Retinal Disease讀者反饋學(xué)科排名





作者: 職業(yè)    時(shí)間: 2025-3-22 00:13

作者: 侵害    時(shí)間: 2025-3-22 02:18

作者: aggressor    時(shí)間: 2025-3-22 05:24

作者: 智力高    時(shí)間: 2025-3-22 09:28
g cases contributed by global leaders in the field as well as clinical photographs obtained with newer imaging techniques and numerous images of rare but clinically important diseases.978-981-16-7339-9978-981-16-7337-5
作者: mitten    時(shí)間: 2025-3-22 15:39
Kaoru Fujinami,Yu Fujinami-Yokokawa,Lizhu Yang,Xiao Liu,Gavin Arno,Nikolas Pontikos,East Asia Inheri
作者: 否決    時(shí)間: 2025-3-22 20:30

作者: glamor    時(shí)間: 2025-3-23 01:02
Vitelliform Macular Dystrophy,n the diagnosis of VMD because the clinical features of VMD are similar to those of exudative age-related macular degeneration (AMD), choroidal neovascularization (CNV), or central serous chorioretinopathy (CSC). Here, in addition to describing the clinical characteristics of VMD, this chapter focuses on the clinical genetics of . gene in VMD.
作者: hermetic    時(shí)間: 2025-3-23 03:01

作者: Concerto    時(shí)間: 2025-3-23 08:02

作者: 輕推    時(shí)間: 2025-3-23 10:58
Retinitis Pigmentosa,uch as a high-resolution spectral domain optical coherence tomography (OCT) revealed new aspects of RP [2]. In RP patients, the vision-specific quality of life cannot be explained only by visual acuity or field, and both are related to the visual function [3].
作者: cardiac-arrest    時(shí)間: 2025-3-23 16:45

作者: invert    時(shí)間: 2025-3-23 19:42

作者: 焦慮    時(shí)間: 2025-3-23 23:34

作者: 拋媚眼    時(shí)間: 2025-3-24 03:22
Molecular Genetics of Inherited Retinal Diseases, but also the development of new therapeutic alternatives. In this chapter, we review the molecular genetic characteristics and techniques of genetic analysis associated with IRDs. We also discuss the molecular biology of the common mutations causing IRDs.
作者: outskirts    時(shí)間: 2025-3-24 08:03

作者: 他去就結(jié)束    時(shí)間: 2025-3-24 13:43

作者: bioavailability    時(shí)間: 2025-3-24 15:02
Other Macular Dystrophies 2,na macular dystrophy, Doyne honeycomb retinal dystrophy, and Bietti’s crystalline dystrophy, in which gene variants have been identified as a cause of the disease. The purpose of this chapter is to provide an overview of these disorders.
作者: sclera    時(shí)間: 2025-3-24 20:41

作者: granite    時(shí)間: 2025-3-25 00:46
Syndromic Retinitis Pigmentosa,thy. A multidisciplinary approach is needed because systemic manifestations are quite heterogenous. In this chapter, inherited syndromic disorders showing typical pigmentary retinopathy will be described. Syndromic RP in this chapter includes Usher syndrome, ciliopathy, inborn errors of metabolism, and mitochondrial disorders (Table 5.2).
作者: GRIPE    時(shí)間: 2025-3-25 07:11
Congenital Stationary Night Blindness,3]. Other associated abnormalities are color vision defect, nystagmus, photophobia, strabismus, refractive error, and fundus abnormality [4, 5]. Clinical presentation may appear differently depending on the causative gene.
作者: Terrace    時(shí)間: 2025-3-25 08:05

作者: 巨大沒(méi)有    時(shí)間: 2025-3-25 12:38
https://doi.org/10.1007/978-981-16-7337-5Inherited retinal disease; retinitis pigmentosa; retinal dystrophy; genetic diagnosis; molecular genetic
作者: Cholesterol    時(shí)間: 2025-3-25 16:23
Hyeong-Gon YuUpdates on clinical features and molecular diagnosis.Cases contributed by global leaders in the field.Clinical photographs obtained with newer imaging techniques.Many images of rare but clinically imp
作者: jeopardize    時(shí)間: 2025-3-25 23:32
http://image.papertrans.cn/i/image/466466.jpg
作者: synovium    時(shí)間: 2025-3-26 03:24

作者: 外形    時(shí)間: 2025-3-26 07:44
Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy,al diseases with widely overlapping features. Herein we present in a comprehensive and concise manner the clinical features, molecular genetics, treatment principles, novel treatment methods, and retinal imaging findings of LCA/EOSRD, emphasizing in some of the most common genotypes: ., ., ., ., ., ., ., and
作者: 笨拙的我    時(shí)間: 2025-3-26 08:41
Cone Dystrophy/Cone-Rod Dystrophy,earance. The loss of cones leads to predominant symptoms such as decreased visual acuity, color vision defects and day blindness. Cone dystrophies are genetically heterogeneous and can be inherited by autosomal recessive, autosomal dominant or X-linked recessive patterns.
作者: 激怒某人    時(shí)間: 2025-3-26 12:37

作者: pester    時(shí)間: 2025-3-26 17:52

作者: CHOKE    時(shí)間: 2025-3-26 21:13
Approach to Inherited Retinal Diseases,diagnosis of IRDs are important, as it allows the patient to be aware of their visual limitations and helps to determine their visual prognosis. Furthermore, through appropriate examination, physicians will be able to detect and manage treatable complications, such as cataract and cystoid macular ed
作者: meretricious    時(shí)間: 2025-3-27 04:01

作者: 表示向下    時(shí)間: 2025-3-27 06:04

作者: Carminative    時(shí)間: 2025-3-27 12:05
Syndromic Retinitis Pigmentosa,ype of RP and extraocular manifestations simultaneously. These genes are listed in Table 5.1. Moreover, there are systemic multi-organ disorders that show pigmentary retinopathy. Etiologies are variable including drug toxicity, infection, monogenic mutation. Some of these diseases have curable etiol
作者: 孤僻    時(shí)間: 2025-3-27 14:02

作者: indoctrinate    時(shí)間: 2025-3-27 19:57
Congenital Stationary Night Blindness,vision and impaired dark adaptation [1]. This disease group is quite rare, and the prevalence of CSNB has been estimated at 0.34 per 100,000 in Northern Europe [2]. The prevalence might have been underestimated because night blindness symptom decreases due to the expansion of night lighting in urban
作者: MITE    時(shí)間: 2025-3-27 22:15
Vitelliform Macular Dystrophy,predominantly affects the macula. Best vitelliform macular dystrophy is among the most common autosomal dominant (AD) retinal dystrophy caused by mutations in the . gene. Since first identification of . gene in 1998, molecular biology and pathophysiology of . gene and vitelliform macular dystrophy w
作者: 忍受    時(shí)間: 2025-3-28 02:23

作者: callous    時(shí)間: 2025-3-28 09:45

作者: Tortuous    時(shí)間: 2025-3-28 12:44
X-Linked Retinoschisis, most common juvenile-onset retinal degeneration in males with an estimated prevalence of 1:5000–1:20,000 [2]. Haas believed that the disease was inflammatory in nature [1], but X-linked pattern of inheritance was demonstrated 15 years later [3], and the term “X-linked retinoschisis” was first coine
作者: Calculus    時(shí)間: 2025-3-28 15:20

作者: Sigmoidoscopy    時(shí)間: 2025-3-28 21:40
Other Macular Dystrophies 2,to define and diagnose these diseases accurately. This chapter deals with several macular dystrophies, including Sorsby fundus dystrophy, North Carolina macular dystrophy, Doyne honeycomb retinal dystrophy, and Bietti’s crystalline dystrophy, in which gene variants have been identified as a cause of
作者: Flinch    時(shí)間: 2025-3-29 01:28
Hereditary Vitreoretinal Degenerations,of these conditions would be difficult due to overlapping clinical features among them. Now, the advances in clinical and molecular genetic studies have contributed to the assessment to define and diagnose these conditions properly. This chapter deals with several types of disorders covering chondro
作者: Rct393    時(shí)間: 2025-3-29 03:37

作者: FILLY    時(shí)間: 2025-3-29 07:36

作者: 畏縮    時(shí)間: 2025-3-29 13:32

作者: 無(wú)可爭(zhēng)辯    時(shí)間: 2025-3-29 18:48
Un Chul Parkliche Tradition zurückblicken. Als Ausführungsorgan staatlicher Entscheidungen und Selbstverwaltungsinstitution vor Ort hat die Kommune eine Doppelrolle im politischen System inne, deren konkrete Ausgestaltung haupts?chlich abh?ngt von Gemeindegr??e und finanziellen Ressourcen. Haben Parteien das Fe
作者: Bravado    時(shí)間: 2025-3-29 19:51
In Hwan Chod Regeln eingebettet sind und von denen ihre Funktionsweise beeinflusst wird. Von Interesse in diesem Zusammenhang ist u. a. eine vitale Medienlandschaft, ohne die eine liberale konstitutionelle Demokratie keine ist.?Sie ist in Deutschland gepr?gt durch einen Dualismus aus privaten und ?ffentlich-re
作者: thwart    時(shí)間: 2025-3-30 03:56

作者: Fecal-Impaction    時(shí)間: 2025-3-30 07:05
Abkl?rung und OP-Indikationen bei malignen Lymphknoten des unteren GI-Traktesathologischen Vergr??erung eines Lymphknotens, ist zun?chst als Symptom zu verstehen. M?gliche Ursachen sind hier sowohl reaktive Ver?nderungen im Rahmen einer infekti?sen Genese als auch maligne Lymphadenopathien im Rahmen von soliden Tumoren oder h?matologischen Neoplasien. Das folgende Kapitel so
作者: macabre    時(shí)間: 2025-3-30 10:41

作者: Digest    時(shí)間: 2025-3-30 12:48

作者: 北極熊    時(shí)間: 2025-3-30 17:34
Toad Poison and Drug Discovery, bioactive components from toad poisons, with diverse biological activities, have been studied. They present diversified chemical structures, such as steroids, alkaloids, peptides, proteins, and biogenic amines. Toad poison components are the result of pharmacological and biochemical refinement that
作者: Inertia    時(shí)間: 2025-3-30 21:23

作者: 安撫    時(shí)間: 2025-3-31 02:01
Skalierungsfragen und Aktionssoziometrieiate to consider how our decisive progress in uncovering those laws has advanced the discussion of some quite basic — you might call them either “big” or “naive” — questions about Nature. These are insights I’d like to share with Heisenberg if he could be present today. I think he’d enjoy them.
作者: locus-ceruleus    時(shí)間: 2025-3-31 07:34

作者: resilience    時(shí)間: 2025-3-31 10:35
,Posterity and Writing ‘for the Day’, the recession limb of the TUH to be declining monotonically. The LS method is also applied for comparison. The data from the Wills Creek (in Maryland, the USA) are used for case study. The results show that the GA method has suppressed the saw-tooth phenomenon successfully in the recession limb of
作者: 灌輸    時(shí)間: 2025-3-31 15:16
Amir Sohail,Huma Qayyum,Farman Hassan,Auliya Ur Rahmanteraction between linguistic and perceptual information?and accounts for the variable influence that color?labels have on non-linguistic tasks. The paper provides some example of strategy shifting and flexible recruitment of linguistic information available in the literature and explains them using
作者: Hdl348    時(shí)間: 2025-3-31 20:33
Rolling Back to?Manual Work: An Exploratory Research on?Robotic Process Re-Manualizationesent an exploratory study. We used individual interviews, group discussions with managers experienced in RPA, and secondary data analysis to elaborate on the re-manualization phenomenon. As a result, we found four types of ‘cause and effect’ narrations that reflect reasons for this to occur: (1) ov
作者: Dignant    時(shí)間: 2025-3-31 22:50

作者: 以煙熏消毒    時(shí)間: 2025-4-1 05:30
,Berücksichtigung der magnetischen S?ttigung,ssiv nichtlinear. Für das in Kapitel?2 dargestellte mathematische Modell der ?linearen“ Drehstrommaschine wurde diese magnetische S?ttigung noch vernachl?ssigt. Moderne Maschinen sind jedoch so hoch ausgenutzt, dass relativ kleine ?nderungen des Arbeitspunktes bereits zu einem ver?nderten Betriebsverhalten führen.
作者: 兵團(tuán)    時(shí)間: 2025-4-1 06:11

作者: Apraxia    時(shí)間: 2025-4-1 14:07
https://doi.org/10.1007/978-3-031-26640-9Literature, Science and Medicine Studies; Literature and the Environment; realism; the anthopocene; Vict




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