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221
Genetic Analyses on Transgender Individuals: Impact on Physician Attitudes and Surgical Decision‐Making
Published 2025-01-01“…Conclusion Although genetic analysis of TGD individuals is predicted to have a positive effect on physicians' attitudes toward them and on the GCS decision‐making process, it should be emphasized that the benefits for TGD individuals must outweigh the potential harm. …”
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222
Plant diversity and transcriptional variability assessed by retrotransposon-based molecular markers
Published 2017-03-01“…The utility of LTR-retrotransposon-based markers, not only for genetic analysis and map construction, in addition also for the isolation and characterization of LTR retrotransposons, such as the long terminal repeats or the internal genes they contain. …”
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223
Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency
Published 2014-01-01“…In order to elucidate the molecular basis for 11β-OHD in the Croatian/Slavic population, it is imperative to perform CYP11B1 genetic analysis in more patients from this region, since so far only four patients from three unrelated Croatian families have been analyzed.…”
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224
CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects
Published 2025-02-01“…The primary materials used in the research include: clinical case reports and studies, imaging studies, genetic analysis, therapeutic interventions, epidemiological data, literature review and data analysis. …”
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225
A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype
Published 2025-03-01“…At age 33 months, she showed hyperlactatemia, and genetic analysis showed compound heterozygous novel variants (NM_138395.4: c.[277G > A]; [409C > T]: p.…”
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226
Genetic Determinants and Biofilm Properties Useful in Estimation of UTI Pathogenicity of the <i>Escherichia coli</i> Strains Isolated from Free-Living Birds
Published 2025-01-01“…<b>Methods</b>: In this study, we assessed the virulence potential of environmental strains isolated from wild waterfowl using genetic analysis (Clermont phylogroup classification) and phenotypic methods, including analysis of the human monocyte response to biofilm formation. …”
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227
Evaluation of the Frequency of HLA-DQ2/DQ8 Genes Among Patients with Celiac Disease and Those on a Gluten-Free Diet
Published 2025-01-01“…All subjects underwent a genetic analysis assessing the presence of histocompatibility antigens HLA-DQ2.2, -DQ2.5, and -DQ8, along with the assessment of alleles encoding the α and β subunits of the antigens, according to European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines from 2020, using the EUROarray technique at EUROIMMUNE<sup>®</sup>. …”
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228
Morphological and phylogenetic features of the Crimean population of <i>Juniperus deltoids</i> R.P. Adams
Published 2023-07-01“…Nuclear (ITS internal transcribed spacer) and chloroplast (petN-psbM, trnS-trnG) non-coding regions of the genome were used for genetic analysis. Studies have shown that the nuclear regions of genes have greater variability than chloroplast regions. …”
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229
RESISTANCE TO THE BLAST AGENT AND THE MORPHOBIOLOGICALFEATURES OF GENOTYPES IN THE Oryza sativa L. COLLECTION FROM VARIOUS ECOLOGICAL AND GEOGRAPHICAL GROUPS IN CONDITIONS OF КUBAN...
Published 2018-03-01“…As a result of the evaluation of plant resistance to the Krasnodar population of the pathogen, the effective genes for resistance to the pathogen for breeding programs of the south of Russia and the molecular genetic analysis of the rice collection variety were determined: Pi-1, Pi-z, Pi-ta, Pi-z5, Pi-9, Pi-5(t), Pi-t, Pi-19.…”
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230
Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the l...
Published 2018-01-01“…Of note, the patient’s history was significant for conductive hearing loss, speech delay, as well as recurrent acute otitis media episodes. Genetic analysis was performed and diagnosis of MWS was confirmed due to the presence of a NLRP3 gene mutation. …”
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231
TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation
Published 2024-07-01“…We present the case of a patient with GDLD. Genetic analysis revealed a homozygous deletion, NM_002353.3:c.653del, in the TACSTD2 gene. …”
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232
Characteristic external genitalia in male neonates with 5α-reductase deficiency
Published 2024-10-01“…This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. …”
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233
Examining the Formalin Fixation Method for Maintaining High RNA Quality in Surgical Lung Specimens
Published 2025-01-01“…No significant difference was observed in nucleic acid concentration. The multiplex genetic analysis success rate was 95% with conventional methods (one failure); however, it was 100% with the sheet‐like fixation method. …”
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234
Sleep quality among sample of Egyptian patients with Alzheimer’s disease: risk factors and role of genetic profiling for ACE, ACE 2 and APO E genotypes
Published 2025-01-01“…They were accordingly divided into good as well as poor sleep quality groups. Genetic analysis of ACE, ACE2 (rs2285666) SNPs and Apo E (rs121918398) SNPs was done using (RFLP-PCR) I. …”
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235
Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma
Published 2020-01-01“…To date, performing the genetic analysis according to the latest Consensus Statement is mandatory in patients affected by PHEO/PGL.…”
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236
A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient
Published 2025-01-01“…This study presents the clinical presentation and genetic analysis of a Chinese family with a child diagnosed with DEE78, due to a novel GABRA2 variant. …”
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237
Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort
Published 2025-01-01“…This study aims to investigate the role of ITM2B variations in a Taiwanese cohort with unsolved cerebellar ataxia. Methods Genetic analysis of ITM2B was performed in 212 unrelated Taiwanese patients with unsolved cerebellar ataxia. …”
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238
Genetic influences on non-syndromic cleft lip palate: The impact of BMP4, RUNX2, PAX7, and TGFB3 allelic variations
Published 2024-09-01“…The isolated DNA was sent for genetic analysis by Single Nucleotide Polymorphism (SNP) genotyping using the MassArray method. …”
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239
Plasmodium Falciparum Genetic Diversity and Multiplicity of Infection Among Asymptomatic and Symptomatic Malaria-Infected Individuals in Uganda.
Published 2024“…Genetic data analysis was performed using appropriate genetic analysis software. Results P. falciparum infections exhibited high genetic diversity in both asymptomatic and symptomatic individuals. …”
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240
The ichthyofauna of the upper Neretva River
Published 2023-12-01“…Evidence of the endangered softmouth trout (Salmo obtusirostris) was obtained as well as the presence of other native and non-native salmonids. Genetic analysis suggests that the native brown trout (Salmo trutta) in the upper Neretva is homogeneous with no significant introgression by introduced Atlantic-lineage brown trout and quantitative catch data show that their populations are healthy with densities above 1,000 ind/ha. …”
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