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Wyświetlanie 1-20 z 3103
Tytuł:
The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling.
Autorzy:
Paterson AD; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Divisions of Epidemiology and Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
Seok SC; Mathematical Medicine LLC, Chicago, IL, United States of America.
Vieland VJ; Mathematical Medicine LLC, Chicago, IL, United States of America.; Departments of Pediatrics and Biostatistics (Emerita), The Ohio State University, Columbus, OH, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Sep 21; Vol. 18 (9), pp. e0290336. Date of Electronic Publication: 2023 Sep 21 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Counseling*
High-Throughput Nucleotide Sequencing*
Penetrance ; Virulence ; Lod Score
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Determination of heavy elements collected from the tropical river water by laser-induced breakdown spectroscopy (LIBS) technique: probable experimental approaches and challenges
Autorzy:
Shukla, V. K.
Rai, Abhishek Kr.
Rai, A. K.Aff1, IDs1259602401719y_cor3
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Źródło:
Journal of Optics. :1-11
Czasopismo naukowe
Szczegóły
Tytuł:
An easy-to-apply fluorescent sensor for ClO determination using merocyanine 540 in aqueous medium
Autorzy:
Şenol, Ayşe MerveAff1, IDs11696023032312_cor1
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Źródło:
Chemical Papers. 78(3):2043-2052
Czasopismo naukowe
Szczegóły
Tytuł:
Flourescence sensors for heavy metal detection: major contaminants in soil and water bodies
Autorzy:
Singh, M.
Kumar, J.Aff1, IDs44211023003928_cor2
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Źródło:
Analytical Sciences. 39(11):1829-1838
Czasopismo naukowe
Szczegóły
Tytuł:
Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes.
Autorzy:
Pan DZ; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA.; Bioinformatics Interdepartmental Program, UCLA, Los Angeles, USA.
Miao Z; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA.; Bioinformatics Interdepartmental Program, UCLA, Los Angeles, USA.
Comenho C; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA.
Rajkumar S; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA.; Computational and Systems Biology Interdepartmental Program, UCLA, Los Angeles, USA.
Koka A; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA.
Lee SHT; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA.
Alvarez M; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA.
Kaminska D; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA.; Institute of Public Health and Clinical Nutrition, University of Eastern Finland, Kuopio, Finland.
Ko A; Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, USA.
Sinsheimer JS; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA.; Department of Computational Medicine, David Geffen School of Medicine at UCLA, Los Angeles, USA.
Mohlke KL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Mancuso N; Center for Genetic Epidemiology, Department of Preventative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, USA.
Muñoz-Hernandez LL; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Ave. Morones Prieto 3000, Monterrey, N.L., México, 64710.; Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Departamento de Endocrinología y Metabolismo del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Herrera-Hernandez M; Departamento de Cirugía, Instituto Nacional de Ciencias Médicas y Nutrición, Mexico City, Mexico.
Tusié-Luna MT; Unidad de Biología Molecular y Medicina Genómica, Instituto de Investigaciones Biomédicas UNAM/ Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Aguilar-Salinas C; Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Departamento de Endocrinología y Metabolismo del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Pietiläinen KH; Obesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Obesity Center, Endocrinology, Abdominal Center, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
Pihlajamäki J; Institute of Public Health and Clinical Nutrition, University of Eastern Finland, Kuopio, Finland.; Department of Medicine, Endocrinology and Clinical Nutrition, Kuopio University Hospital, Kuopio, Finland.
Laakso M; Department of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
Garske KM; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA.
Pajukanta P; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, USA. .; Bioinformatics Interdepartmental Program, UCLA, Los Angeles, USA. .; Institute for Precision Health at UCLA, Los Angeles, USA. .
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Źródło:
Genome medicine [Genome Med] 2021 Aug 02; Vol. 13 (1), pp. 123. Date of Electronic Publication: 2021 Aug 02.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Expression Regulation*
Adipose Tissue/*metabolism
Obesity, Abdominal/*genetics
Obesity, Abdominal/*metabolism
T-Box Domain Proteins/*metabolism
Trans-Activators/*metabolism
Adipocytes ; Adiposity/genetics ; Aged ; Algorithms ; Biomarkers ; Body Mass Index ; Cells, Cultured ; Computational Biology/methods ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/metabolism ; Disease Susceptibility ; Gene Expression Profiling ; Gene Knockdown Techniques ; Gene Regulatory Networks ; Genome-Wide Association Study ; High-Throughput Nucleotide Sequencing ; Humans ; Lod Score ; Male ; Middle Aged ; Waist-Hip Ratio
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A statistical framework for QTL hotspot detection.
Autorzy:
Wu PY; Institute of Statistical Science, Academia Sinica, Taipei 11529, Taiwan, Republic of China.
Yang MH; Crop Science Division, Taiwan Agricultural Research Institute, Council of Agriculture, Taichung 41362, Taiwan, Republic of China.
Kao CH; Institute of Statistical Science, Academia Sinica, Taipei 11529, Taiwan, Republic of China.; Department of Agronomy, National Taiwan University, Taipei 10617, Taiwan, Republic of China.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2021 Apr 15; Vol. 11 (4).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Quantitative Trait Loci*
Chromosome Mapping ; Computer Simulation ; Lod Score ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Fine mapping of the major QTLs for biochemical variation of sulforaphane in broccoli florets using a DH population.
Autorzy:
Li Z; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China. .
Liu Y; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
Yuan S; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
Han F; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
Fang Z; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
Yang L; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
Zhuang M; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
Zhang Y; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
Lv H; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
Wang Y; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
Ji J; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
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Źródło:
Scientific reports [Sci Rep] 2021 Apr 26; Vol. 11 (1), pp. 9004. Date of Electronic Publication: 2021 Apr 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Mapping*
Genetics, Population*
Haploidy*
Quantitative Trait Loci*
Brassica/*genetics
Brassica/*metabolism
Isothiocyanates/*metabolism
Sulfoxides/*metabolism
Biomarkers ; Genetic Linkage ; Inheritance Patterns ; Lod Score
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.
Autorzy:
Andres EM; Child Language Doctoral Program, University of Kansas, Lawrence.
Earnest KK; Language Acquisition Studies Lab, University of Kansas, Lawrence.
Smith SD; Department of Neurological Sciences, University of Nebraska Medical Center, Omaha.
Rice ML; Child Language Doctoral Program, University of Kansas, Lawrence.
Raza MH; Child Language Doctoral Program, University of Kansas, Lawrence.
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Źródło:
Journal of speech, language, and hearing research : JSLHR [J Speech Lang Hear Res] 2020 Dec 14; Vol. 63 (12), pp. 4046-4061. Date of Electronic Publication: 2020 Nov 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Specific Language Disorder*
Chromosome Mapping ; Genetic Predisposition to Disease/genetics ; Humans ; Lod Score ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Variant analysis of 1,040 SARS-CoV-2 genomes.
Autorzy:
Rouchka EC; Department of Computer Science and Engineering, University of Louisville, Louisville, Kentucky, United States of America.; Kentucky Biomedical Research Infrastructure Network Bioinformatics Core, University of Louisville, Louisville, Kentucky, United States of America.
Chariker JH; Kentucky Biomedical Research Infrastructure Network Bioinformatics Core, University of Louisville, Louisville, Kentucky, United States of America.; Neuroscience Training Program, University of Louisville, Louisville, Kentucky, United States of America.
Chung D; Department of Microbiology and Immunology, University of Louisville, Louisville, Kentucky, United States of America.
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Źródło:
PloS one [PLoS One] 2020 Nov 05; Vol. 15 (11), pp. e0241535. Date of Electronic Publication: 2020 Nov 05 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genome, Viral*
Mutation*
Betacoronavirus/*genetics
3' Untranslated Regions ; 5' Untranslated Regions ; Genetic Linkage ; Linkage Disequilibrium ; Lod Score ; SARS-CoV-2 ; Sequence Analysis, RNA ; Whole Genome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.
Autorzy:
Söderhäll C; 1] Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden [2] Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
Körberg IB; 1] Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet CMM 02, Karolinska University Hospital, Stockholm, Sweden [2] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Thai HT; Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet CMM 02, Karolinska University Hospital, Stockholm, Sweden.
Cao J; Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet CMM 02, Karolinska University Hospital, Stockholm, Sweden.
Chen Y; Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet CMM 02, Karolinska University Hospital, Stockholm, Sweden.
Zhang X; Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet CMM 02, Karolinska University Hospital, Stockholm, Sweden.
Shulu Z; Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet CMM 02, Karolinska University Hospital, Stockholm, Sweden.
van der Zanden LF; Department for Health Evidence, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
van Rooij IA; Department for Health Evidence, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Frisén L; Department of Clinical Neuroscience, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Roeleveld N; 1] Department for Health Evidence, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Markljung E; Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet CMM 02, Karolinska University Hospital, Stockholm, Sweden.
Kockum I; Department of Clinical Neuroscience, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Nordenskjöld A; 1] Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet CMM 02, Karolinska University Hospital, Stockholm, Sweden [2] Department of Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Apr; Vol. 23 (4), pp. 516-22. Date of Electronic Publication: 2014 Jul 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Mapping*
Lod Score*
Hypospadias/*genetics
3-Hydroxysteroid Dehydrogenases/genetics ; Aldo-Keto Reductase Family 1 Member C3 ; Asian People/genetics ; Case-Control Studies ; Chromosomes, Human, Pair 10/genetics ; Chromosomes, Human, Pair 8/genetics ; Exons ; Gene Expression Regulation ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Genotyping Techniques ; Humans ; Hydroxyprostaglandin Dehydrogenases/genetics ; Hydroxysteroid Dehydrogenases/genetics ; Kruppel-Like Factor 6 ; Kruppel-Like Transcription Factors/genetics ; Male ; Microsatellite Repeats ; Oxidoreductases/genetics ; Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins/genetics ; White People/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Investigating a Simple and Sensitive High-performance Liquid Chromatography Method for Simultaneous Determination of Apigenin, Catalpol, and Gallic Acid Contents in Plantago Lanceolata L. and Plantago Major L.
Autorzy:
Samaneh Rahamouz-Haghighi
Khadijeh Bagheri
Ali Sharafi
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Temat:
apigenin
catalpol
gallic acid
hplc-uv
lod
loq
plantain
Therapeutics. Pharmacology
RM1-950
Źródło:
Pharmaceutical and Biomedical Research, Vol 9, Iss 4, Pp 297-310 (2023)
Opis pliku:
electronic resource
Relacje:
http://pbr.mazums.ac.ir/article-1-536-en.pdf; https://doaj.org/toc/2423-4494
Dostęp URL:
https://doaj.org/article/cd73d0cd919e4a289ea2fc92ef1d7d72  Link otwiera się w nowym oknie
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comparative Analysis of the Semantic Conditions of LoD3 3D Building Model Based on Aerial Photography and Terrestrial Photogrammetry
Autorzy:
Muh Apriansyah
Harintaka Harintaka
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Temat:
3d, lod, semantic
Geography. Anthropology. Recreation
Geology
QE1-996.5
Źródło:
Journal of Applied Geospatial Information, Vol 7, Iss 2, Pp 927-931 (2023)
Opis pliku:
electronic resource
Relacje:
https://jurnal.polibatam.ac.id/index.php/JAGI/article/view/6634; https://doaj.org/toc/2579-3608
Dostęp URL:
https://doaj.org/article/22dc76cc3d49444f933c682960302379  Link otwiera się w nowym oknie
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 3103

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