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Compound heterozygosity
Results: 47

#	Item
1	Clan Genomics and the Complex Architecture of Human Disease Add to Reading List Source URL: irvinginstitute.columbia.edu Language: English - Date: 2015-01-14 10:34:21 Haploinsufficiency Compound heterozygosity Genetic variation Penetrance Population genetics Genomes Project Genome-wide association study Single-nucleotide polymorphism Human genome Biology Genetics Philosophy of biology
2	Manuscript_Book_chapter_Version5_09272013 Add to Reading List Source URL: biorxiv.org Language: English Exome sequencing Human genome Mutation Compound heterozygosity Full genome sequencing Mosaic Genetic architecture Timothy syndrome Epigenetics Biology Genetics Philosophy of biology
3	Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed Oliver P. Forman1, Jacques Penderis2., Claudia Hartley1., Louisa J. Add to Reading List Source URL: www.waltham.com Language: English* - Date: 2012-08-17 12:00:59 Mutation Brevican Compound heterozygosity SNP genotyping Single-nucleotide polymorphism Restriction fragment length polymorphism Genotype Genome-wide association study Genotyping Biology Genetics Philosophy of biology
4	60 International Journal of Modern Anthropology Int. J. Mod. Anthrop: 60-78 Available online at: www.ata.org.tn ; Add to Reading List Source URL: www.ata.org.tn Language: English - Date: 2012-05-17 11:27:37 Health Thalassemia Beta-thalassemia Hemoglobinopathy Hemoglobin Compound heterozygosity Alpha-thalassemia Sickle-cell disease Fetal hemoglobin Hemoglobins Medicine Biology
5	Molecular Human Reproduction vol.3 no.8 pp. 693–698, 1997 Single cell detection of β-thalassaemia mutations using silver stained SSCP analysis: an application for preimplantation diagnosis Nisreen El-Hashemite, Daga Add to Reading List Source URL: molehr.oxfordjournals.org Language: English - Date: 1997-09-08 08:40:25 Preimplantation genetic diagnosis Polymerase chain reaction Point mutation Thalassemia Compound heterozygosity Sickle-cell disease Single-strand conformation polymorphism Temperature gradient gel electrophoresis Biology Genetics Molecular biology
6	Microsoft Word - WES_WGS_Report_Supp_Example_100814.docx Add to Reading List Source URL: personalizedmedicine.partners.org Language: English - Date: 2014-10-22 13:38:56 Genomics Ciliopathy Bioinformatics Human genome Full genome sequencing Compound heterozygosity Genetic screen Exome sequencing Gene Biology Genetics Molecular biology
7	annrheumdisindd Add to Reading List Source URL: ard.bmj.com Language: English Genetics Periodic fever syndrome Familial Mediterranean fever Medical genetics Genetic testing Compound heterozygosity Human genome Von Willebrand disease MEFV Medicine Health Biology
8	Selected Antenatal and Pregnancy Factsheets. Add to Reading List Source URL: www.nevdgp.org.au Language: English - Date: 2011-10-28 01:45:44 Health Thalassemia Hemoglobin E Globin Alpha-thalassemia Beta-thalassemia Compound heterozygosity Hemoglobin Recessive Hemoglobins Medicine Biology
9	GeneTalk_Whitepaper_CompHet Add to Reading List Source URL: www.gene-talk.de Language: English - Date: 2014-03-13 10:16:34 Classical genetics Compound heterozygosity Genotype Zygosity Mutation Genetic disorder Dominance Recessive Genetics Biology Philosophy of biology
10	NIH Public Access Author Manuscript Neuron. Author manuscript; available in PMC 2014 January 23. NIH-PA Author Manuscript Add to Reading List Source URL: www.ncbi.nlm.nih.gov Language: English Autism Evolutionary biology Pervasive developmental disorders Mutation Exome sequencing Compound heterozygosity Genetic variation Human genome Heritability of autism Biology Genetics Philosophy of biology

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