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Human chromosome atlas : introduction to diagnostics of structural aberrations
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ISBN: 3031105877 3031105885 Year: 2023 Publisher: Cham, Switzerland : Springer,

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Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III, demonstrate the spectrum of the different types of chromosome abnormalities by a combination of karyogram and ideogram, it compares the expressiveness of different banding techniques, and it gives the karyotype formula and describes morphological peculiarities of each presented case. The final part, provides a detailed description of variants of non-coding DNA and focuses on potential problems in detecting aberrations and mentions necessary additional investigations and peculiarities, which have to be taken into account when counseling carriers of a chromosome aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.


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Les chromosomes humains : caryotype normal et variations pathologiques
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Year: 1965 Publisher: Paris : Gauthier-Villars,

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Human chromosome methodology
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Year: 1966 Publisher: New York: Academic press,

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Human genome informatics
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ISBN: 0128134313 0128094141 9780128134313 9780128094143 Year: 2018 Publisher: London, United Kingdom

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The chromosome 22q11.2 deletion syndrome
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ISBN: 0128160470 0128160489 9780128160473 9780128160480 Year: 2022 Publisher: London, United Kingdom Academic Press

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"Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and students Presents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndrome Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the field Features leading international contributors in various sub-specialties, representing the many body systems affected by this syndrome Includes full color figures, flow charts and tables to guide real-time decision-making"--


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Grand celebration : 10th Anniversary of the Human Genome Project
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ISBN: 3038421715 Year: 2016 Publisher: Basel, Switzerland : MDPI,

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In 1990, scientists began working together on one of the largest biological research projects ever proposed. The project proposed to sequence the three billion nucleotides in the human genome. The Human Genome Project took 13 years and was completed in April 2003, at a cost of approximately three billion dollars. It was a major scientific achievement that forever changed the understanding of our own nature. The sequencing of the human genome was in many ways a triumph for technology as much as it was for science. From the Human Genome Project, powerful technologies have been developed (e.g., microarrays and next generation sequencing) and new branches of science have emerged (e.g., functional genomics and pharmacogenomics), paving new ways for advancing genomic research and medical applications of genomics in the 21st century. The investigations have provided new tests and drug targets, as well as insights into the basis of human development and diagnosis/treatment of cancer and several mysterious humans diseases. This genomic revolution is prompting a new era in medicine, which brings both challenges and opportunities. Parallel to the promising advances over the last decade, the study of the human genome has also revealed how complicated human biology is, and how much remains to be understood. The legacy of the understanding of our genome has just begun. To celebrate the 10th anniversary of the essential completion of the Human Genome Project, in April 2013 Genes launched this Special Issue, which highlights the recent scientific breakthroughs in human genomics, with a collection of papers written by authors who are leading experts in the field.


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Karyotype, meiosis and spermatogenesis in a sample of men attending an infertility clinic
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Year: 1966 Publisher: Basel: Karger,

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Human chromosome methodology
Authors: --- --- ---
Year: 1965 Publisher: New York (N.Y.) : Academic press,

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Karyotype, meiosis, and spermatogenesis in a sample of men attending an infertility clinic
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Year: 1966 Publisher: Basel [etc.] : Karger,

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Human chromosome methodology
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ISBN: 0127751556 Year: 1974 Publisher: New York

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