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Phenome-wide screening of the putative causal determinants of bipolar affective disorder using genetic data. [PDF]
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Seminars in Pediatric Surgery, 2010
For many years karyotyping has been a successful tool to identify chromosome aberrations in congenital malformations. It has proven to be a highly reliable technique for identifying numerical chromosome changes and structural chromosomal rearrangements, such as deletions, duplications, translocations, or inversions.
de Klein, Annelies, Tibboel, Dick
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For many years karyotyping has been a successful tool to identify chromosome aberrations in congenital malformations. It has proven to be a highly reliable technique for identifying numerical chromosome changes and structural chromosomal rearrangements, such as deletions, duplications, translocations, or inversions.
de Klein, Annelies, Tibboel, Dick
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1998
The Mendelian analysis of genetic variation, available as induced mutants or as natural variation, requires a number of steps that are described in this chapter. These include the determination of the number of genes involved in the observed trait's variation, the determination of dominance relationships between alleles of the same locus, and epistatic
Koornneef, M. +2 more
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The Mendelian analysis of genetic variation, available as induced mutants or as natural variation, requires a number of steps that are described in this chapter. These include the determination of the number of genes involved in the observed trait's variation, the determination of dominance relationships between alleles of the same locus, and epistatic
Koornneef, M. +2 more
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[Genetics and genetic counseling].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2016Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease.
Izzi, Claudia +6 more
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The Lancet, 2004
The review first summarizes the molecular biology methods used in forensic genetics in Denmark. In criminal cases, there is international consensus about investigation of Short Tandem Repeat (STR)-regions with polymerase chain reaction (PCR)based methods that are standardised through international collaboration.
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The review first summarizes the molecular biology methods used in forensic genetics in Denmark. In criminal cases, there is international consensus about investigation of Short Tandem Repeat (STR)-regions with polymerase chain reaction (PCR)based methods that are standardised through international collaboration.
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Annual Review of Genetics, 1995
Inbreeding depression, accumulation and loss of deleterious mutations, loss of genetic variation in small populations, genetic adaptation to captivity and its effect on reintroduction success, and outbreeding depression are reviewed. The impact of genetic factors in endangerment and extinction has been underestimated in some recent publications ...
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Inbreeding depression, accumulation and loss of deleterious mutations, loss of genetic variation in small populations, genetic adaptation to captivity and its effect on reintroduction success, and outbreeding depression are reviewed. The impact of genetic factors in endangerment and extinction has been underestimated in some recent publications ...
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Cancer Nursing Practice, 2016
The Cancer Genetics app is a hereditary cancer risk assessment and referral guide developed by the clinical genetics team at Guy's and St Thomas' NHS Foundation Trust with technology company UBQO.
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The Cancer Genetics app is a hereditary cancer risk assessment and referral guide developed by the clinical genetics team at Guy's and St Thomas' NHS Foundation Trust with technology company UBQO.
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Molecular Genetics and Genetic Variation
2010This chapter contains brief notes on molecular genetics, focusing on those aspects most frequently encountered in genetic epidemiology. The main sections cover the organisation and physical structure of genetic material, the mechanisms involved in transmitting genetic material from one generation to the next, and forms of genetic variation.
Mohammed-Elfatih, Twfieg, M Dawn, Teare
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