Results 111 to 120 of about 7,265 (207)

Silent polymorphisms in the RYR1 gene do not\ud modify the phenotype of the p.4898 I>T\ud pathogenic mutation in central core disease:\ud a case report [PDF]

open access: yes
Background: Central core disease is a congenital myopathy, characterized by presence of central core-like areas in\ud muscle fibers. Patients have mild or moderate weakness, hypotonia and motor developmental delay.
Cuperman, Thais   +9 more
core  

Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations

open access: yesGenome Medicine
Background Progressive hearing loss is a common problem in the human population with no effective therapeutics currently available. However, it has a strong genetic contribution, and investigating the genes and regulatory interactions underlying hearing ...
Morag A. Lewis   +9 more
doaj   +1 more source

Clinical and genetic characterization of patients with hypertrophic cardiomyopathy and right atrial enlargement [PDF]

open access: yes, 2016
AIMS: Prevalence and clinical significance of right atrial enlargement (RAE) has been poorly characterized in hypertrophic cardiomyopathy. METHODS: One hundred and sixty consecutive patients with hypertrophic cardiomyopathy (35.5 ± 20 years; 64% men ...
Bossone, E   +11 more
core  

Systems biology approach for the identification of genetic determinants of colony morphology switch in natural S. cerevisiae strain [PDF]

open access: yes, 2013
9openColony morphology is a fascinating phenotype described in unicellular organisms as a possible step towards multicellularity. The spreading of filamentous structures is used by some pathogenic fungi, as Candida albicans, to invade human tissues thus ...

core  

SELECTION AGAINST HETEROZYGOSIS IN MAN [PDF]

open access: yesAnnals of Eugenics, 1941
openaire   +1 more source

Modeling the effect of age at calving × breed group of dam?s interaction on weaning weight of Charolais-Zebu crossbred calves. [PDF]

open access: yes, 2011
Este trabalho foi realizado com o objetivo de avaliar alternativas para modelar a interação entre idade ao parto e grupo genético da vaca (GGV) sobre o peso à desmama de bezerros mestiços Charolês-Zebu. Dados de peso à desmama de 56.965 bezerros Charolês-
LOPES, P. S.   +4 more
core  

Microsatellites loci reveal heterozygosis and population structure in vampire bats (Desmodus rotundus) (Chiroptera: Phyllostomidae) of Mexico

open access: yesRevista de Biología Tropical, 2014
A limited number of studies have focused on the population genetic structure of vampire bats (Desmodus rotundus) in America. This medium-sized bat is distributed in tropical areas of the continent with high prevalence in forested livestock areas. The aim
Claudia Romero-Nava   +2 more
doaj  

An investigation of genetic variation of (Quercus. castaneafolia C. A. Mey) in Neka and Noor forest of Mazandarn using peroxides activities.

open access: yesتاکسونومی و بیوسیستماتیک, 2011
In order to determine the within and between genetic variation of Caspian oak (Quercus. castanefolia) populations, Based on quantitative and qualitative peroxides activity, 50 trees were selected in 5 habitats in Neka and Noor forest of Mazandaran in ...
Shahla Reisi   +2 more
doaj  

Evaluasi Keragaman Genetik Gen Hormon Pertumbuhan (GH) pada Sapi Pesisir Sumatera Barat Menggunakan Penciri PCR-RFLP

open access: yesMedia Peternakan, 2007
A total of 134 Pesisir cattle were genotyped for growth hormone (GH) gene by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The genotype and allele frequencies of the GH MspI and GH AluI Pesisir cattle were determined. The
Jakaria   +4 more
doaj  

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