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Description Relevant changes in acylcarnitine species observed in various inborn errors of organic acid metabolism and fatty acid oxidation, or due to drug artifacts and contaminants. (+/‐) indicates that the...
Article Title: Acylcarnitine Analysis by Tandem Mass Spectrometry
Publication Title: Current Protocols in Human Genetics -
Description Generation of NKX2.1+ neuron progenitors from hES/iPS cells. (A) Schematic of the differentiation protocol for the generation of hypothalamic progenitors from hES/iPS cells. (B) Live‐cell imaging...
Article Title: Efficient Generation of Hypothalamic Neurons from Human Pluripotent Stem Cells
Publication Title: Current Protocols in Human Genetics -
Description The structure of 1HMF rendered using Cn3D version 4.1, an interactive molecular viewer. Cn3D can be used as a helper application to any Web browser or as a stand‐alone application. (A) The backbone...
Article Title: Searching the NCBI Databases Using Entrez
Publication Title: Current Protocols in Human Genetics -
Description Choice of Cell Culture Method
Article Title: Metaphase Harvest and Cytogenetic Analysis of Malignant Hematological Specimens
Publication Title: Current Protocols in Human Genetics -
Description Chromosome 16 idiogram (reprinted by permission of S. Karger and D. Adler).
Article Title: ISCN Standard Idiograms
Publication Title: Current Protocols in Human Genetics -
Description Analysis of DNA methylation at the imprinted SNRPN promoter. Lane 1, negative; lane 2, Prader‐Willi syndrome; lane 3, Angelman syndrome; lane 4, water; lane 5, unmodified DNA.
Article Title: Methylation‐Specific PCR
Publication Title: Current Protocols in Human Genetics -
Description IBS Similarity (Zij) for Marker Genotype for Any Pairs of Individuals i and j (also see Equation 1.8.7)
Article Title: Model‐Free Tests for Genetic Linkage
Publication Title: Current Protocols in Human Genetics -
Description An EBV‐transformed lymphoblast cell line from an individual who was known to be heterozygous for a deletion of exons 2‐6 in the hMSH2 gene was carried through the CT process, and four cell lines...
Article Title: Conversion Technology for the Separation of Maternal and Paternal Copies of Any Autosomal Chromosome in Somatic Cell Hybrids
Publication Title: Current Protocols in Human Genetics -
Description Preparation of Galactose‐1‐Phosphate Calibrators
Article Title: Diagnosis of Inherited Disorders of Galactose Metabolism
Publication Title: Current Protocols in Human Genetics -
Description Recurrent Common mtDNA Point Mutations and Diseases
Article Title: Analysis of Mitochondrial DNA Point Mutation Heteroplasmy by ARMS Quantitative PCR
Publication Title: Current Protocols in Human Genetics -
Description Spectrophotometric Measurements of Purified DNA
Article Title: Quantitation of DNA and RNA with Absorption and Fluorescence Spectroscopy
Publication Title: Current Protocols in Human Genetics -
Description Pharmacogenetic clinical trial designs: (A) screened, (B) selected, (C) stratified.
Article Title: Overview of Pharmacogenetics
Publication Title: Current Protocols in Human Genetics -
Description Time Considerations for ddPCR Workflow
Article Title: Digital Droplet PCR: CNV Analysis and Other Applications
Publication Title: Current Protocols in Human Genetics -
Description Pedigree file for (example7.ped).
Article Title: Use of LINKAGE Programs for Linkage Analysis
Publication Title: Current Protocols in Human Genetics -
Description Overview of Case‐Level Data Specifications: Points Awarded per Proband With a De Novo Variant
Article Title: Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines
Publication Title: Current Protocols in Human Genetics -
Description Annotated output from GeneMachine showing the results of multiple gene prediction program runs. NCBI Sequin is used at the viewer. At the top of the output are shown the results from various BLAST...
Article Title: Gene Identification: Methods and Considerations
Publication Title: Current Protocols in Human Genetics -
Description Chromosome 4 idiogram (reprinted by permission of S. Karger and D. Adler).
Article Title: ISCN Standard Idiograms
Publication Title: Current Protocols in Human Genetics -
Description Screen shot of the main page of the online version of the SAGE Data Analysis Application.
Article Title: Serial Analysis of Gene Expression (SAGE): Experimental Method and Data Analysis
Publication Title: Current Protocols in Human Genetics -
Description Example of a profiler worksheet.
Article Title: Bone Marrow Engraftment Studies
Publication Title: Current Protocols in Human Genetics -
Description Various components of Spotfire DecisionSite.
Article Title: An Overview of Spotfire for Gene‐Expression Studies
Publication Title: Current Protocols in Human Genetics -
Description Plating scheme to genotype 32 multiplexes in 12 samples. Samples are first plated onto four 96‐well masterplates in the order shown and then transferred to the 384‐well plate to generate multiple...
Article Title: Selection of a Platform for Mutation Detection
Publication Title: Current Protocols in Human Genetics -
Description Comparative Notes on the Different APOE Genotyping Protocols Evaluated in this Study
Article Title: Genotyping of Apolipoprotein E: Comparative Evaluation of Different Protocols
Publication Title: Current Protocols in Human Genetics -
Description Hearing Loss Mutations Prevalent in Certain Populations
Article Title: Molecular Diagnosis of Hearing Loss
Publication Title: Current Protocols in Human Genetics -
Description Dilution of Lambda DNA Stock to Produce Standard Curve for PicoGreen Assay
Article Title: The BAC Resource: Tools for Array CGH and FISH
Publication Title: Current Protocols in Human Genetics -
Description Time Course for the Production of Oncolytic Adenovirus
Article Title: Oncolytic Adenoviruses: Design, Generation, and Experimental Procedures
Publication Title: Current Protocols in Human Genetics -
Description Pharmacogenetic‐based dose selection for drug development.
Article Title: Overview of Pharmacogenetics
Publication Title: Current Protocols in Human Genetics -
Description mtDNA Primer Sequences for Second‐Generation Sequencing
Article Title: Molecular Analysis of the Human Mitochondrial DNA Control Region for Forensic Identity Testing
Publication Title: Current Protocols in Human Genetics -
Description The Nexus DB tab listing projects in this account.
Article Title: Application of Nexus Copy Number Software for CNV Detection and Analysis
Publication Title: Current Protocols in Human Genetics -
Description Read‐Depth Methods
Article Title: A Survey of Copy‐Number Variation Detection Tools Based on High‐Throughput Sequencing Data
Publication Title: Current Protocols in Human Genetics -
Description Transplantation of bronchial xenografts in nu/nu mice. (A) The mouse on the left represents a schematic view of subcutaneous transplantation of the xenograft cassette. (B) Four incisions are made...
Article Title: Gene Delivery to the Airway
Publication Title: Current Protocols in Human Genetics