9783031475320 - human ring chromosomes: a practical guide for clinicians and families (7 risultati)
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Da: Basi6 International, Irving, TX, U.S.A.Basi6 International
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Condizione: Brand New. New. Delivery takes 25-30 days. Excellent Customer Service.
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Da: preigu, Osnabrück, Germaniapreigu
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EUR 95,25
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Taschenbuch. Condizione: Neu. Human Ring Chromosomes | A Practical Guide for Clinicians and Families | Peining Li (u. a.) | Taschenbuch | xxi | Englisch | 2025 | Springer | EAN 9783031475320 | Verantwortliche Person für die EU: Springer Verlag GmbH, Tiergartenstr. 17, 69121 Heidelberg, juergen[dot]hartmann[at]springer[dot]com |…Anbieter: preigu.
Lingua: Inglese
Editore: Springer International Publishing, Springer Nature Switzerland, 2025
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Da: AHA-BUCH GmbH, Einbeck, GermaniaAHA-BUCH GmbH
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EUR 106,99
EUR 65,09 spedizioneSpedito da Germania a U.S.A.Quantità: 1 disponibili
Taschenbuch. Condizione: Neu. Druck auf Anfrage Neuware - Printed after ordering - This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of human ring chromosome (RC) formation. Presence of RCs in a genome can lead to several r…are genetic diseases. This book, edited by the leading experts Prof. Peining Li and Prof. Thomas Liehr, is the first comprehensive book on this topic.Over the past 60 years, banding cytogenetics, fluorescence in situ hybridization, chromosome microarray analysis, and whole genome sequencing have been used to diagnose cases with a RC. Ring syndrome of sever growth retardation and variable intellectual disability has been considered a common clinical feature for all RCs. Clinical heterogeneity of chromosome-specific deletion and duplication syndromes, gene-related organ and tissue defects, cancer predisposition to different types of tumors, and reproduction failure has been reported in the literature. However, the cases of RCs reportedin the literature account for less than 1% of its real occurrence. Current diagnostic practice lacks laboratory standards for analyzing cellular behavior and genomic imbalances of RCs to evaluate its compound effects on patients. The under-representation of clinical cases and the lack of comprehensive diagnostic analysis make challenging to establish accurate clinico-cytogenomic correlations. Given recent advances in genomic technology and organized efforts from peer experts, standardized cytogenomic diagnosis and evidence-based clinical management could be envisioned for all patients with RCs.Furthermore, supernumerary small ring chromosomes and the patient's perspective are addressed-the latter by including family stories of RC-carrier relatives. Acquired RCs in various cancers are also discussed, as well as the potential role of RCs in research applications like iPSC cellular modeling and genomic editing.This book is a valuable reference for clinical geneticists, personnel in cytogenetics and molecular genetics laboratories, genetic counselors, and researchers in related fields.
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Da: Brook Bookstore On Demand, Napoli, NA, ItaliaBrook Bookstore On Demand
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EUR 86,24
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Condizione: new. Questo è un articolo print on demand.
Lingua: Inglese
Editore: Springer International Publishing, Springer Nature Switzerland Mär 2025, 2025
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Da: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, GermaniaBuchWeltWeit Ludwig Meier e.K.
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Taschenbuch. Condizione: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of human ring chromosome (RC) formation. Presence of RCs in a genome can l…ead to several rare genetic diseases. This book, edited by the leading experts Prof. Peining Li and Prof. Thomas Liehr, is the first comprehensive book on this topic.Over the past 60 years, banding cytogenetics, fluorescence in situ hybridization, chromosome microarray analysis, and whole genome sequencing have been used to diagnose cases with a RC. Ring syndrome of sever growth retardation and variable intellectual disability has been considered a common clinical feature for all RCs. Clinical heterogeneity of chromosome-specific deletion and duplication syndromes, gene-related organ and tissue defects, cancer predisposition to different types of tumors, and reproduction failure has been reported in the literature. However, the cases of RCs reportedin the literature account for less than 1% of its real occurrence. Current diagnostic practice lacks laboratory standards for analyzing cellular behavior and genomic imbalances of RCs to evaluate its compound effects on patients. The under-representation of clinical cases and the lack of comprehensive diagnostic analysis make challenging to establish accurate clinico-cytogenomic correlations. Given recent advances in genomic technology and organized efforts from peer experts, standardized cytogenomic diagnosis and evidence-based clinical management could be envisioned for all patients with RCs.Furthermore, supernumerary small ring chromosomes and the patient's perspective are addressed-the latter by including family stories of RC-carrier relatives. Acquired RCs in various cancers are also discussed, as well as the potential role of RCs in research applications like iPSC cellular modeling and genomic editing.This book is a valuable reference for clinical geneticists, personnel in cytogenetics and molecular genetics laboratories, genetic counselors, and researchers in related fields. 548 pp. Englisch.
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Da: Biblios, frankfurt am main, HESSE, GermaniaBiblios
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EUR 156,32
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Condizione: New. PRINT ON DEMAND pp. 545.
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Da: buchversandmimpf2000, Emtmannsberg, BAYE, Germaniabuchversandmimpf2000
Contatta il venditoreVenditore con 5 stelleCondizione: Nuovo
EUR 106,99
EUR 60,00 spedizioneSpedito da Germania a U.S.A.Quantità: 1 disponibili
Taschenbuch. Condizione: Neu. This item is printed on demand - Print on Demand Titel. Neuware -This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of human ring chromosome (RC) formation. Presence of RCs in a genome can lead…to several rare genetic diseases. This book, edited by the leading experts Prof. Peining Li and Prof. Thomas Liehr, is the first comprehensive book on this topic.Springer-Verlag KG, Sachsenplatz 4-6, 1201 Wien 548 pp. Englisch.
