Results 31 to 40 of about 3,708 (168)
Neapolis (CD 126 β+ GTG→GGG): a result of a screening in Campania, a region in Southern Italy
Haematologica, 2007 Between January 1995 and December 2005, we conducted a screening program for the presence of Hb Neapolis, a rare abnormal Hb variant, in Campania, a region in Southern Italy.
Leonilde Pagano +5 more
doaj +1 more source
Agrology, 2019 By means of the analysis of genetic structure was revealed the specificity of allele frequency distribution and genotypic composition of protein system loci.
D. M. Postoienko
doaj +1 more source
Talassemia β heterozigotica com triplicação do gene α globínico.
Acta Médica Portuguesa, 2011 We describe a case in which the interaction of heterozygosis for the mutation Beta IVSI - 110 G> A and the ααα(anti 3,7) allele was the likely cause of the clinical occurrence of thalassemia intermedia.
Ma Conceição Constanço +3 more
doaj +1 more source
Frontiers in Genetics, 2020 IntroductionPathogenic variants in different genes have been described as involved in the development of familial focal segmental glomerulosclerosis (FSGS).
Michelle T. P. Riguetti +6 more
doaj +1 more source
HETEROZYGOSIS AND THE SURVIVAL OF YOUNG MICE IN TWO TEMPERATURES [PDF]
Quarterly Journal of Experimental Physiology and Cognate Medical Sciences, 1964 Inbred mice of strains A, A2G, C57BL and GFF, bred in a room kept at 21° C., were crossed to give all possible F1 types; an outbred stock was also derived from all four inbred strains. Similar matings were made among mice transferred, at the time of mating, to a room kept at ‐3° C.
openaire +2 more sources
Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening [PDF]
Arquivos Brasileiros de Endocrinologia & Metabologia, 2008 Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm infants have high levels of 17-OHP resulting in false positive cases.
Soardi, Fernanda Caroline +7 more
openaire +4 more sources
Genetics and Molecular Biology, 2017 Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events.
Siraprapa Tongkobpetch +5 more
doaj +1 more source
The power of many: when genetics met yeasts and high‐throughput
Biological Reviews, Volume 101, Issue 4, Page 1662-1682, August 2026.ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley +1 more source
Heteroskedasticity for weaning weight of Charolais-Zebu crossbred calves
Revista Brasileira de Zootecnia, 2012 The objective of the present study was to analyze models with genetic and/or residual heteroskedasticity for genetic evaluation of the weaning weight of Charolais-Zebu crossbred calves. Weaning weight data from 56,965 crossbred calves were analyzed using
Fábio Luiz Buranelo Toral +4 more
doaj +1 more source
Medicinal Research Reviews, Volume 46, Issue 4, Page 921-944, July 2026.ABSTRACT To enhance drug discovery efforts, medicinal chemists should evaluate, filter, and utilize relevant structural information about target proteins. Acquiring and interpreting protein structures is crucial for elucidating ligand‐receptor interactions and addressing ADME‐related considerations, making it an essential aspect of medicinal chemistry.
Matteo Rossi Sebastiano +4 more
wiley +1 more source