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Annals of Human Genetics|August 10, 2020
Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patientsVrisha Madhuri, Agnes Selina, Lakshmi Loganathan, et al.Annals of Human Genetics|January 25, 2014
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutationsValeria Bafunno, Maria Bova, Stefania Loffredo, et al.Annals of Human Genetics|June 26, 2014
Genetic diversity of a late prehispanic group of the Quebrada de Humahuaca, northwestern ArgentinaFanny Mendisco, Christine Keyser, Veronica Seldes, et al.Annals of Human Genetics|June 20, 2014
CYP1B1 gene mutations causing primary congenital glaucoma in TunisiaYosra Bouyacoub, Salim Ben Yahia, Nesrine Abroug, et al.Annals of Human Genetics|May 1, 1989
Isozyme and DNA analysis of human S-adenosyl-L-homocysteine hydrolase (AHCY)F X Arredondo-Vega, J A Charlton, Y H Edwards, et al.Annals of Human Genetics|October 1, 1989
Restriction fragment length polymorphism of human mitochondrial DNA in a sample population from Apulia (southern Italy)G de Benedictis, G Rose, G Passarino, et al.Annals of Human Genetics|April 16, 2015
Kullback-Leibler distance methods for detecting disease association with rare variants from sequencing dataAsuman S Turkmen, Zhifei Yan, Yue-Qing Hu, et al.Annals of Human Genetics|July 1, 1977
The frequency in Japanese of genetic variants of 22 proteins II. Carbonic anhydrase I and II, lactate dehydrogenase, malate dehydrogenase, nucleoside phosphorylase, triose phosphate isomerase, haemoglobin A and haemoglobin A2N Ueda, C Satoh, R J Tanis, et al.Annals of Human Genetics|June 26, 2012
Statistical tests for detecting rare variants using variance-stabilising transformationsKai Wang, John H FingertPageof 231