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Genetic disorder
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1	Exercise A variant has been identified in a patient presenting with a genetic disorder. We’d like to determine if it is causing the phenotype. The variant is in HGVS notation: 21:g.25606478T>C. (a) What are the prote Add to Reading List Source URL: ftp.ebi.ac.uk Language: English - Date: 2018-03-06 08:50:01
2	UCSF Benioff Children’s Hospital Oakland Northern California Comprehensive THALASSEMIA Center What is Thalassemia? Thalassemia is a genetic blood disorder that causes hemoglobin deficiency and Add to Reading List Source URL: thalassemia.com Language: English - Date: 2016-08-17 18:09:36
3	Dear Primary Care Provider, Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease characterized by weakness of the skeletal and respiratory muscles. SMA is a rare disorder occurring approximately 1 in 10,000 b Add to Reading List Source URL: www.curesma.org - Date: 2015-05-01 10:28:22
4	Idic(15) rarechromo.org Idic(15) Idic(15) is a rare chromosome disorder where people have extra genetic material (DNA) Add to Reading List Source URL: www.rarechromo.org - Date: 2015-01-12 13:13:59
5	PGD Preimplantation Genetic Diagnosis for Single Gene Disorders Add to Reading List Source URL: www.igenomix.ae Language: English - Date: 2015-02-24 12:39:27 Medicine Clinical medicine Health Medical genetics In vitro fertilisation Fertility medicine Cryobiology Fertility Preimplantation genetic diagnosis Genetic disorder Embryo culture Embryo transfer
6	Popular-Sire Syndrome: Keeping watch over health and quality issues in purebreds By Jerold S Bell, DVM, Tufts Cummings School of Veterinary Medicine (This article originally appeared in the “Healthy Dog” section of t Add to Reading List Source URL: clubs.akc.org Language: English - Date: 2015-07-01 22:07:02 Anthrozoology Pets Dog breeds Subspecies of Canis lupus Dog breeding Medical tests Herding dogs Mongrel Genetic disorder Canine degenerative myelopathy Persian cat Purebred dog
7	How one patient with a rare disease coped with his genetic disorder Add to Reading List Source URL: www.epp-deutschland.de Language: English - Date: 2015-04-23 11:35:57 Medicine Health Clinical medicine Rare diseases Porphyrias Lysosomal storage diseases RTT Erythropoietic protoporphyria Glycogen storage disease type II Disease
8	www.cgt.igenomix.com Why do a CGT test? If both members of the couple obtain a positive result in the Carrier Genetic Test with a mutation in the same gene, the recommendation is to consult with a specialist Add to Reading List Source URL: cgt.igenomix.ae Language: English - Date: 2016-05-10 04:30:07 Biology Medicine Genetics Medical genetics Alternatives to animal testing Genetic testing Genetic disorder Mutation Retinitis pigmentosa
9	www.cgt.igenomix.com Why do a CGT test? If both members of the couple obtain a positive result in the Carrier Genetic Test with a mutation in the same gene, the recommendation is to consult with a specialist Add to Reading List Source URL: cgt.igenomix.es Language: English - Date: 2016-05-10 04:30:07 Biology Medicine Genetics Medical genetics Alternatives to animal testing Genetic testing Genetic disorder Mutation Retinitis pigmentosa
10	Charity No Legal and Administrative Details For the Year Ended 31 March 2006 Status Add to Reading List Source URL: rarechromo.org Language: English - Date: 2006-07-11 17:44:37 Genetics Biology Cytogenetics Syndromes Chromosomal abnormalities Chromosome Genetic disorder Karyotype Human genetics Isodicentric 15 1q21.1 duplication syndrome

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