Showing 221 - 240 results of 278 for search '"genetic analysis"', query time: 0.07s Refine Results
  1. 221

    Genetic Analyses on Transgender Individuals: Impact on Physician Attitudes and Surgical Decision‐Making by Duygu Onur Cura, Ayfer Ülgenalp, Tufan Çankaya

    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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  2. 222

    Plant diversity and transcriptional variability assessed by retrotransposon-based molecular markers by R. N. Kalendar, K. S. Aizharkyn, O. N. Khapilina, A. A. Amenov, D. S. Tagimanova

    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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  3. 223

    Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency by Katja Dumic, Tony Yuen, Zorana Grubic, Vesna Kusec, Ingeborg Barisic, Maria I. New

    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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  4. 224

    CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects by Julianna Podolec, Silvia Ciraolo, Joanna Wojda, Adam Sobiński, Zuzanna Kościuszko, Katarzyna Kurza, Agnieszka Kulczycka-Rowicka, Matylda Czerwonka, Katarzyna Lesiczka-Fedoryj, Anna Walczak

    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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  5. 225

    A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype by Hiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, Gen Nishimura, Yasushi Okazaki, Kei Murayama, Mitsuru Kubota, Akira Ohtake

    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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  6. 226

    Genetic Determinants and Biofilm Properties Useful in Estimation of UTI Pathogenicity of the <i>Escherichia coli</i> Strains Isolated from Free-Living Birds by Bartosz Rybak, Tomasz Jarzembowski, Agnieszka Daca, Beata Krawczyk, Lidia Piechowicz

    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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  7. 227

    Evaluation of the Frequency of HLA-DQ2/DQ8 Genes Among Patients with Celiac Disease and Those on a Gluten-Free Diet by Marek K. Kowalski, Danuta Domżał-Magrowska, Ewa Małecka-Wojciesko

    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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  8. 228

    Morphological and phylogenetic features of the Crimean population of <i>Juniperus deltoids</i> R.P. Adams by A. O. Lantushenko, O. O. Korenkova, A. A. Syrovets, Ya. V. Meger, P. A. Korenkov, O. M. Shevchuk

    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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  9. 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... by T. L. Korotenko, O. A. Bragina, I. I. Suprun, Zh. M. Mukhina, Yu. V. Epifanovich, A. A. Petrukhnenko, T. А. Khorina

    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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  10. 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... by Cinzia Marchica, Faisal Zawawi, Dania Basodan, Rosie Scuccimarri, Sam J. Daniel

    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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  11. 231
  12. 232

    Characteristic external genitalia in male neonates with 5α-reductase deficiency by Takeshi Munenaga, Yosuke Ichihashi, Satsuki Nakano, Hironori Shibata, Takeshi Sato, Hiroshi Asanuma, Keiko Homma, Tomonobu Hasegawa, Tomohiro Ishii

    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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  13. 233

    Examining the Formalin Fixation Method for Maintaining High RNA Quality in Surgical Lung Specimens by Takashi Teishikata, Manabu Itoh, Yusuke Okamoto, Naofumi Miyahara, Chiho Nakashima, Koichiro Takahashi, Masafumi Hiratsuka, Keita Kai, Keiji Kamohara

    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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  14. 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 by Khaled Ahmed Elbeh, Mohamed Abdala Abbas, Mohammed H. Hassan, Mohamed Moslem Hefny, Shimaa Fathy Sakr, Reham Bakry Mohamed, Mahmoud Ahmed Bekiet, Tarek Desoky

    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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  15. 235
  16. 236

    A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient by Li Yang, Xingyu Wan, Ran Hua, Junhong Jiang, Baotian Wang, Rui Tao, De Wu

    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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  17. 237

    Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort by Shih‐Yu Fang, Cheng‐Tsung Hsiao, Kang‐Yang Jih, Yu‐Sheun Tsai, Kuan‐Lin Lai, Cheng‐Ta Chou, Yi‐Chu Liao, Yi‐Chung Lee

    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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  18. 238

    Genetic influences on non-syndromic cleft lip palate: The impact of BMP4, RUNX2, PAX7, and TGFB3 allelic variations by Praveen Kumar Neela, Rajeshwari B.V, Mahamad Irfanulla Khan, Shahistha Parveen Dasnadi, Gosla Srinivas Reddy, Akhter Husain, Vasavi Mohan

    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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  19. 239
  20. 240

    The ichthyofauna of the upper Neretva River by Jakob Neuburg, Thomas Friedrich, Elisabeth Haring, Sarah Höfler, Ana Maric, Saša Marić, Stephanie Popp, Predrag Simonović, Aleš Snoj, Simona Sušnik Bajec, Simon Vitecek, Alexandra Wanka, Steven Weiss, Kurt Pinter

    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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