13 hits in Medvik Filters

... Variation in Number and Position 12 -- 2.6 Euchromatic Variants 12 -- 2.6.1 Copy Number Variants and Structural ... ... - 5.3.1.1 Constitutional -- 5.3.1.2 Neoplasia -- 5.3.2 Autosomal Numerical Abnormalities -- 5.4 Structural ... ... -- 5.4.1 Specification of Chromosomes and Breakpoints -- 5.4.2 Karyotype Format for Designating Structural ... ... PB1 -- 8.3.5 Abnormal Structural PB2 -- 9 Genome Mapping -- 9.1 Introduction -- 9.2 General Principles ... ... PB1 139 -- 8.3.5 Abnormal Structural PB2 140 -- 9 Genome Mapping 141 -- 9.1 Introduction 142 -- 9.2 ...

Basel : S. Karger AG, 2024

Genetics

viii, 224 stran : 16 grafických znázornění, ilustrace, 12 tabulek

. 2023 ; 39 (1) : 59-73. [pub] 20221117

... -- 4.1 General Principles 378(38 -- 4.2 Specification of Breakpoints 381(47 -- 4.3 Designating Structural ... ... 4.3.1.3 Four-Break and More Complex Rearrangements 383(43 -- 4.3.2 Detailed Form for Designating Structural ... ... Chromosome Rearrangements 399|59 -- 9.1 General Principles 399|59 -- 9.2 Specification of Structural ... ... Present 453|7 73 -- 13.2.6 Use of dim and enh in Metaphase/ns/fu Hybridization 454|7 74 -- 13.2.7 Subtelomeric ... ... Principles 484|744 -- 16.3 Examples of Sequence-Based Nomenclature for Description of -- Large Structural ...

Basel ; Hartford : Karger, 2020

163 stran : ilustrace ; 28 cm

. 2018 ; 131 (10) : 2213-2227. [pub] 20180801

. 2017 ; 9 (1) : 197-212.

. 2017 ; 151 (2) : 96-105. [pub] 20170324

... in the karyotype -- Normal variable chromosome features -- Numerical chromosome abnormalities -- Structural ... ... 4.3.1.3 Four-Break and More Complex Rearrangements 42 -- 4.3.2 Detailed System for Designating Structural ... ... Chromosome Abnormalities 55 -- 8.3 Autosomal Abnormalities 56 -- 8.4 Uniparental Disomy 57 -- 9 Structural ... ... Chromosome Rearrangements 58 -- 9.1 General Principles 58 -- 9.2 Specification of Structural Rearrangements ... ... Prophase/Metaphase in situ Hybridization (ish) 101 -- 13.2.1 Use of dim and enh 105 -- 13.2.2 Subtelomeric ...

Basel ; New York : Karger, 2016

vi, 139 stran : 10 obrázků, 4 tabulky ; 28 cm + rozkládací příloha

... in the karyotype -- Normal variable chromosome features -- Numerical chromosome abnormalities -- Structural ... ... 4.3.1.3 Four-Break and More Complex Rearrangements 42 -- 4.3.2 Detailed System for Designating Structural ... ... Chromosome Abnormalities 55 -- 8.3 Autosomal Abnormalities 56 -- 8.4 Uniparental Disomy 57 -- 9 Structural ... ... Chromosome Rearrangements 58 -- 9.1 General Principles 58 -- 9.2 Specification of Structural Rearrangements ... ... Prophase/Metaphase in situ Hybridization (ish) 101 -- 13.2.1 Use of dim and enh 105 -- 13.2.2 Subtelomeric ...

Basel : Karger, 2016

1. edition vi, 140 stran : ilustrace

. 2016 ; 17 (-) : 337. [pub] 20160504

... Microdeletion Syndrome 92 -- 2q37 Deletion Syndrome 96 -- 3q29 Microdeletion Syndrome 98 -- 9q34.3 Subtelomeric ... ... Complex 838 -- Sternal Malformation-Vascular Dysplasia -- Spectrum 840 -- Monozygotic Twinning and Structural ...

Philadelphia : Saunders Elsevier, c2013

7th ed. xiv, 998 s. : il. ; 27 cm