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Mostrando 781 - 800 Resultados de 1,116 Para Buscar '"geneticist"', tiempo de consulta: 0.14s Limitar resultados
  1. 781
    “…In the last decade, Knock-out mice have offered models for cardiologists and geneticists to study the causes of congenital disease. …”
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    Two Heterozygous Mutations in NFATC1 in a Patient with Tricuspid Atresia
  2. 782
    por Cho, Jae Yong
    Publicado 2013
    “…New paradigm of transdisciplinary team science, which is composed of innovative explorations and clinical investigations of oncologists, geneticists, pathologists, biologists, and bio-informaticians, is mandatory to recognize personalized target therapy.…”
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    Molecular Diagnosis for Personalized Target Therapy in Gastric Cancer
  3. 783
    “…Our comprehensive survey and evaluation of NGS tools provides a valuable guideline for human geneticists working on Mendelian disorders, complex diseases and cancers.…”
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    A survey of tools for variant analysis of next-generation genome sequencing data
  4. 784
    “…Molecular diagnosis will help clinicians and geneticists, firstly to conduct genetic counseling, prenatal diagnosis and early treatment, and secondly to gain better understanding of the disease and genotype-phenotype correlations.…”
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    Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report
  5. 785
    “…Stakeholders from diverse communities—patient families, physicians, geneticists, researchers, Pharma, and funding organizations—were brought together so that they could meet and learn from each other and establish strategies and collaborations for the future, with the overall aim of discovering much needed new treatments to prolong kidney function.…”
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    The 2014 International Workshop on Alport Syndrome
  6. 786
    “…These results reveal an important role for natural selection in a trait of longstanding interest to ecologists, geneticists, and the lay community, and provide a platform for comparative studies of morphological variation in other natural populations.…”
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    Recurrent Evolution of Melanism in South American Felids
  7. 787
    “…The application of high-density molecular markers allows breeders and geneticists to identify important loci through association analysis and selection mapping, as well as to monitor changes in the distribution of genetic diversity across the genome. …”
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    Selection for Silage Yield and Composition Did Not Affect Genomic Diversity Within the Wisconsin Quality Synthetic Maize Population
  8. 788
    por Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred FJ, den Dunnen, Johan, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin
    Publicado 2015
    “…Therefore, we invite clinical geneticists, physicians, researchers, bioinformatics experts and patients to reconsider their role and position in future diagnostic genome care.…”
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    Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
  9. 789
    “…SUMMARY: Treatment of Smith-Magenis syndrome is complex and requires a multidisciplinary team including, among others, geneticists, psychiatrists, neuropediatricians/neurologists, somnologists, developmental and behavioral pediatricians, and speech and language therapists.…”
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    Behavioral disturbance and treatment strategies in Smith-Magenis syndrome
  10. 790
    “…The impact of these disorders presents a major challenge to clinicians, geneticists, and neuroscientists. Mutations that cause neurodevelopmental disorders are commonly found in genes encoding proteins that regulate synaptic function. …”
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    SYNGAP1: Mind the Gap
  11. 791
    “…However, as with counseling for risk assessment, geneticists should be aware that the interpretation of genetic testing for TACI mutations is difficult and the potential impact on clinical management is still limited.…”
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    Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes
  12. 792
    por Fujikura, Kohei
    Publicado 2016
    “…I conclude that population exome-based carrier rates can form the foundation for a prospectively maintained database of use to clinical geneticists. Similar modeling methods can be applied to many inherited disorders.…”
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    Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences
  13. 793
    “…Two independent clinical geneticists were able to predict the presence of a deletion with a sensitivity of 83% and specificity of 79% when assessing facial dysmorphic features as a whole. …”
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    Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder
  14. 794
    “…CONCLUSIONS: G23D extends the fraction of variants for which structural analysis is applicable and provides better and faster accessibility for structural data to biologists and geneticists who routinely work with genomic information.…”
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    G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures
  15. 795
    “…Their children were then investigated using echocardiography, urinary ultrasound, cranial magnetic resonance image, and examined by geneticists and pediatric dentists. RESULTS: One hundred and seventeen children were included in the study. …”
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    Teratogenicity of Antiepileptic Drugs
  16. 796
    “…Thus, our discussion is targeted at both human geneticists seeking innovative strategies for experimental validation of findings from GWAS, as well as the Drosophila research community, by whom ongoing investigations of the implicated genes will powerfully inform our understanding of human disease.…”
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    Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits
  17. 797
    “…Additionally, panelcn.MOPS offers QC criteria not only for samples, but also for individual ROIs within a sample, which increases the confidence in called CNVs. panelcn.MOPS is freely available both as R package and standalone software with graphical user interface that is easy to use for clinical geneticists without any programming experience. panelcn.MOPS combines high sensitivity and specificity with user‐friendliness rendering it highly suitable for routine clinical diagnostics.…”
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    panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics
  18. 798
    “…The aim is to raise awareness in the scientific community (geneticists, physiologists, ecophysiologists, agronomists, …) about the caper strengths and interest to the development of this shrub as a crop.…”
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    Capparis spinosa L. in A Systematic Review: A Xerophilous Species of Multi Values and Promising Potentialities for Agrosystems under the Threat of Global Warming
  19. 799
    “…Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. …”
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    Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss
  20. 800
    “…In addition to medical and dental specialists that have a vivid interest in these syndromes and for whom these syndromes are of evident interest, experts of scientific background—like molecular and developmental geneticists, but also computational biologists and bioinformaticians—, become more frequently involved in the refined diagnostic and etiological processes of these patients. …”
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    Update on 13 Syndromes Affecting Craniofacial and Dental Structures
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