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2014, ISBN 3642552889
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived... 
Medicine | Medical laboratories | Human genetics | Reproductive Medicine
Web Resource
10/2016, 2nd ed., Springer Protocols Handbooks Ser., ISBN 9783662529577
Annotation This manual offers detailed protocols for fluorescence in situ hybridization (FISH) and comparative genomic hybridization approaches, which have... 
Science | Fluorescence Microscopy
Web Resource
2009, ISBN 3540705813
This FISH application guide provides an overview of the principles and the basic techniques of fluorescence in situ hybridization (FISH) and primed in situ... 
Medicine | Developmental biology | Cytology | Life sciences | Research_xMethodology | Human genetics | Reproductive Medicine
Web Resource
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1769, pp. 79 - 84
Journal Article
International journal of molecular sciences, ISSN 1422-0067, 02/2019, Volume 20, Issue 4, p. 826
Background: The concept of chromosomics was introduced by Prof. Uwe Claussen in 2005. Herein, the growing insights into human chromosome structure finally lead... 
chromosomics | cytogenetics | epigenetics | chromosomes | interphase-architecture | X-CHROMOSOME | BIOCHEMISTRY & MOLECULAR BIOLOGY | SOMATIC MOSAICISM | CHEMISTRY, MULTIDISCIPLINARY | ROD PHOTORECEPTOR CELLS | HUMAN GENOME | MOLECULAR CYTOGENETICS | PIPETTE-METHOD | NUCLEAR ARCHITECTURE | FRAGILE SITES | MARKER CHROMOSOMES | MICRODISSECTION
Journal Article
10/2010, ISBN 3642089526
Annotation This FISH application guide provides an overview of the principles and the basic techniques of fluorescence in situ hybridization (FISH) and primed... 
Web Resource
Methods in Molecular Biology, ISSN 1064-3745, 2019, Volume 1885, pp. 129 - 137
The most common aneuploidies observed in prenatal diagnostics in the second trimester are trisomies of the chromosomes 13, 18 or 21 and gonosomal... 
Fluorescence in situ hybridization (FISH) | Prenatal diagnosis | Molecular cytogenetics | Pitfalls | Interphase FISH | Pregnancy | Humans | Karyotyping | Amniotic Fluid - cytology | Chromosome Aberrations | Aneuploidy | Female | Interphase - genetics | Prenatal Diagnosis - methods | In Situ Hybridization, Fluorescence - methods
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 02/2017, Volume 10, Issue 1
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 647 - 653
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 01/2016, Volume 9, Issue 1, p. 5
Background: Copy number variations (CNVs) having no (obvious) clinical effects were rediscovered as major part of human genome in 2004. However, for every... 
Molecular cytogenetics | Banding cytogenetics | Heteromorphism | Euchromatic variants (EVs) | Copy number variations (CNVs) | HUMAN GENOME | GENETICS & HEREDITY | Physiological aspects | Cytogenetics | Research | Genetic variation
Journal Article
2014, ISBN 9780124046313, 227
Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using... 
Genetics | Biology, life sciences | Variation (Biology)
eBook
Molecular Cytogenetics, ISSN 1755-8166, 2010, Volume 3, Issue 1, pp. 8 - 8
Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that... 
GENETICS & HEREDITY | Cytogenetics | Genetic aspects | Chromosome abnormalities | Research | Diagnosis | Cell lines
Journal Article
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