Thomas liehr (57 Ergebnisse)

Broschiert. Zustand: Gut. 271 Seiten; Der Erhaltungszustand des hier angebotenen Werks ist trotz seiner Bibliotheksnutzung sehr sauber und kann entsprechende Merkmale aufweisen (Rückenschild, Instituts-Stempel.). Neben dem oben aufgeführten Aufsatz befinden sich auch weitere Beiträge auch anderer Autoren in dem Werk. Sprache: Deutsch Gewicht in Gramm: 310.…

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - This book is a general overview on Human Genetics including:- an attempt for a definition and a short history of Human Genetics;- Mendel's rules, basics on mitosis, meiosis and mutations;- an overview on clinical genetics including, pedigrees, modes of inheritance and genetic counseling;- basics of cytogenetics, molecular cytogenetics and molecular genetics;- pre- and postnatal genetic diagnostics with genomic disorders; and- tumor genetics (including cancer and familial cancer syndromes).- Also aspects of mutagenesis, teratology, gene therapy, population genetics and epigenetics are discussed.Overall, this book is meant as a kind of 'starter package' for interested future human genetics specialists.…

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - This book is a general overview on Human Genetics including:- an attempt for a definition and a short history of Human Genetics;- Mendel's rules, basics on mitosis, meiosis and mutations;- an overview on clinical genetics including, pedigrees, modes of inheritance and genetic counseling;- basics of cytogenetics, molecular cytogenetics and molecular genetics;- pre- and postnatal genetic diagnostics with genomic disorders; and- tumor genetics (including cancer and familial cancer syndromes).- Also aspects of mutagenesis, teratology, gene therapy, population genetics and epigenetics are discussed.Overall, this book is meant as a kind of 'starter package' for interested future human genetics specialists.…

Zustand: New. pp. xx + 220 65 Illus. (5 Col.).

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering.

Taschenbuch. Zustand: Neu. Human Genetics | A Basic Training Package | Thomas Liehr | Taschenbuch | Englisch | epubli | EAN 9783746797465 | Verantwortliche Person für die EU: preigu GmbH & Co. KG, Lengericher Landstr. 19, 49078 Osnabrück, mail[at]preigu[dot]de | Anbieter: preigu.

Taschenbuch. Zustand: Neu. Human Genetics | A Basic Training Package Edition 2020 | Thomas Liehr | Taschenbuch | 168 S. | Englisch | 2020 | epubli | EAN 9783750276123 | Verantwortliche Person für die EU: Neopubli GmbH, Sebastian Stude, Köpenicker Str. 154a, 10997 Berlin, produktsicherheit[at]epubli[dot]com | Anbieter: preigu. …

Taschenbuch. Zustand: Neu. Small supernumerary marker chromosomes | Basics | Dr. Thomas Liehr | Taschenbuch | Englisch | epubli | EAN 9783758451935 | Verantwortliche Person für die EU: preigu GmbH & Co. KG, Lengericher Landstr. 19, 49078 Osnabrück, mail[at]preigu[dot]de | Anbieter: preigu.

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - This book is aimed at anyone interested in the biological phenomenon of uniparental disomy (UPD). Since UPD can lead to congenital diseases, this is also an important topic of the book - eight testimonials from affected families are also included.The book answers the following and other questions: - What is a UPD - What is the difference between congenital and acquired UPD - How common is the UPD phenomenon - How can UPD develop - What forms and subtypes of UPD are there - What are the clinical consequences of UPD - Is UPD hereditary - How can UPD be diagnosed - What patient organizations are there - What is imprinting and why can it be connected with UPD - What are imprinting syndromes there - Which research approaches are there - Will there soon be a gene therapy for UPD UPD has long been misunderstood as a molecular genetic problem - here it is put in its proper place as a chromosomal / chromosomic phenomenon. The book is also basis for the correct interpretation of UPD findings from molecular genetics (SNP-array-CGH or NGS).…

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - Dieses Buch stellt einen allgemeinen Überblick über die Humangenetik dar und beinhaltet:- den Versuch einer Definition und eine kurze Geschichte der Humangenetik;- die Mendel'schen Regeln, grundlegendes zu Mitose, Meiose und Mutationen;- einen Überblick über klinische Genetik, Stammbäume, Vererbungsmodi und Beratung;- Basis der Zytogenetik, Molekulare Zytogenetik und Molekulargenetik;- prä- und postnatale genetische Diagnostik einschließlich 'Genomic Disorders'; und- Tumogenetik (mit erblichen Krebserkrankungen und familiären Krebssyndromen).- Auch Aspekte der Mutagenese, Teratologie, Gentherapie, Populationsgenetik undEpigenetik werden diskutiert.Insgesamt soll dieses Buch eine Art 'Starter-Paket' sein für Interessierte und künftigehumangenetische Spezialisten.…

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - Almost everyone knows the big white rabbit Harvey from the movie 'Harvey' with James Stewart. Anyone who always wants to know more about Pookas, to which Harvey belongs, is in the right place for this humorous non-fiction book about this unusual group of animals. Biology, genetics, evolution and systematics are treated and 20 different species presented.…

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - Nahezu jeder kennt den großen weißen Hasen Harvey aus dem Film 'Mein Freund Harvey' mit James Stewart. Wer schon immer mehr über Pukas wissen will, zu dem Harvey gehört, ist bei diesem humorvollen Sachbuch über diese ungewöhnliche Tiergruppe an der richtigen Adresse. Biologie, Genetik, Evolution und Systematik werden behandelt und 20 unterschiedliche Arten vorgestellt. / Almost everyone knows the big white rabbit Harvey from the movie 'Harvey' with James Stewart. Anyone who always wants to know more about Pukas, to which Harvey belongs, is in the right place for this humorous non-fiction book about this unusual group of animals. Biology.…

Taschenbuch. Zustand: Neu. All you need to know about uniparental disomy | UPD and imprinting. DE | Dr. Thomas Liehr | Taschenbuch | Englisch | epubli | EAN 9783758465581 | Verantwortliche Person für die EU: preigu GmbH & Co. KG, Lengericher Landstr. 19, 49078 Osnabrück, mail[at]preigu[dot]de | Anbieter: preigu.…

Zustand: New. In English.

hardcover. Zustand: Very Good.

hardcover. Zustand: Good. Cover and edges may have some wear.

Zustand: New. In English.

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects.This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.…

Paperback. Zustand: Brand New. 2012 edition. 250 pages. 9.26x6.11x0.70 inches. In Stock.

Zustand: New. In English.

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed.Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.…

Hardcover. Zustand: Brand New. 1st edition. 220 pages. 9.00x6.25x0.75 inches. In Stock.

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - Fluorescence in situ hybridization (FISH) has been developed as a powerful technology which allows direct visualisation or localisation of genomic alterations. The technique has been adopted to a range of applications in both medicine, especially in the areas of diagnostic cytogenetics, and biology. Topics described in this manual include: FISH on native human tissues, such as blood, bone marrow, epithelial cells, hair root cells, amniotic fluid cells, human sperm cells; FISH on archival human tissues, such as formalin fixed and paraffin embedded tissue sections, cryofixed tissue; simultaneous detection of apoptosis and xpression of apoptosis-related genes; comparative genomic ybridization; and special FISH techniques.…

Taschenbuch. Zustand: Neu. Small Supernumerary Marker Chromosomes (sSMC) | A Guide for Human Geneticists and Clinicians | Thomas Liehr | Taschenbuch | xx | Englisch | 2014 | Springer | EAN 9783642435362 | Verantwortliche Person für die EU: Springer Verlag GmbH, Tiergartenstr. 17, 69121 Heidelberg, juergen[dot]hartmann[at]springer[dot]com | Anbieter: preigu. …

Zustand: New. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development Uniquely classifies .

Taschenbuch. Zustand: 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 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.…

Buch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects.This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.…

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering.

Zustand: New. In English.

Taschenbuch. Zustand: 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. …