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    Wyświetlanie 1-12 z 12
    Tytuł:
    Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease.
    Autorzy:
    Wang Y; Department of Surgery, The University of Hong Kong, Hong Kong SAR, China.
    Mak TSH; Fano Labs, Hong Kong SAR, China.
    Dattani S; Department of Psychiatry, The University of Hong Kong, Hong Kong SAR, China.; Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
    Garcia-Barcelo MM; Department of Surgery, The University of Hong Kong, Hong Kong SAR, China.
    Fu AX; Department of Computer Science and Engineering, The Chinese University of Hong Kong, Hong Kong SAR, China.
    Yip KY; Department of Computer Science and Engineering, The Chinese University of Hong Kong, Hong Kong SAR, China.; Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, 92037, USA.
    Ngan ES; Department of Surgery, The University of Hong Kong, Hong Kong SAR, China.
    Tam PK; Department of Surgery, The University of Hong Kong, Hong Kong SAR, China.; Dr Li Dak-Sum Research Center, The University of Hong Kong-Karolinska Institute Collaboration in Regenerative Medicine, Hong Kong SAR, China.; Faculty of Medicine, Macau University of Science and Technology, Macao, China.
    Tang CS; Department of Surgery, The University of Hong Kong, Hong Kong SAR, China. .; Dr Li Dak-Sum Research Center, The University of Hong Kong-Karolinska Institute Collaboration in Regenerative Medicine, Hong Kong SAR, China. .
    Sham PC; Department of Psychiatry, The University of Hong Kong, Hong Kong SAR, China. .; The State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong SAR, China. .
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    Źródło:
    Scientific reports [Sci Rep] 2022 Nov 28; Vol. 12 (1), pp. 20423. Date of Electronic Publication: 2022 Nov 28.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Hirschsprung Disease*/genetics
    Humans ; Epistasis, Genetic ; Whole Genome Sequencing ; Alleles ; Asian People ; Proto-Oncogene Proteins c-ret/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
    Autorzy:
    Kuil LE; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    MacKenzie KC; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    Tang CS; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.; Li Dak-Sum Research Centre, The University of Hong Kong-Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong, China.
    Windster JD; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Paediatric Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    Le TL; Laboratory of embryology and genetics of malformations, Institut Imagine Université de Paris INSERM UMR1163 Necker Enfants malades University Hospital, Paris, France.
    Karim A; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
    de Graaf BM; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    van der Helm R; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    van Bever Y; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    Sloots CEJ; Department of Paediatric Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    Meeussen C; Department of Paediatric Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    Tibboel D; Department of Paediatric Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    de Klein A; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    Wijnen RMH; Department of Paediatric Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    Amiel J; Laboratory of embryology and genetics of malformations, Institut Imagine Université de Paris INSERM UMR1163 Necker Enfants malades University Hospital, Paris, France.
    Lyonnet S; Laboratory of embryology and genetics of malformations, Institut Imagine Université de Paris INSERM UMR1163 Necker Enfants malades University Hospital, Paris, France.
    Garcia-Barcelo MM; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
    Tam PKH; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.; Li Dak-Sum Research Centre, The University of Hong Kong-Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong, China.
    Alves MM; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    Brooks AS; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    Hofstra RMW; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Stem Cells and Regenerative Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
    Brosens E; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
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    Źródło:
    PLoS genetics [PLoS Genet] 2021 Aug 06; Vol. 17 (8), pp. e1009698. Date of Electronic Publication: 2021 Aug 06 (Print Publication: 2021).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    DNA Copy Number Variations*
    Gene Regulatory Networks*
    Enteric Nervous System/*growth & development
    Hirschsprung Disease/*genetics
    Animals ; Case-Control Studies ; Disease Models, Animal ; Enteric Nervous System/chemistry ; Epistasis, Genetic ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Mice ; Zebrafish
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Sacral agenesis: a pilot whole exome sequencing and copy number study.
    Autorzy:
    Porsch RM; Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.
    Merello E; Istituto Giannina Gaslini, Genoa, Italy.
    De Marco P; Istituto Giannina Gaslini, Genoa, Italy.
    Cheng G; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.
    Rodriguez L; AbaCid-Genética. Grupo HM Hospitales, Madrid, Spain.
    So M; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.
    Sham PC; Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.; Centre for Reproduction, Development, and Growth, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.; Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.; State Key Laboratory of Brain and Cognitive Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.
    Tam PK; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.; Centre for Reproduction, Development, and Growth, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.
    Capra V; Istituto Giannina Gaslini, Genoa, Italy. .
    Cherny SS; Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.; Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.; State Key Laboratory of Brain and Cognitive Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR.
    Garcia-Barcelo MM; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. .; Centre for Reproduction, Development, and Growth, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. .; The Hong Kong Jockey Club Building for Interdisciplinary Research, 5 Sassoon Road, Pokfulam, Hong Kong, People's Republic of China. .
    Campbell DD; Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. .; Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. .
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    Źródło:
    BMC medical genetics [BMC Med Genet] 2016 Dec 22; Vol. 17 (1), pp. 98. Date of Electronic Publication: 2016 Dec 22.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Abnormalities, Multiple/*genetics
    Meningocele/*genetics
    Sacrococcygeal Region/*abnormalities
    Abnormalities, Multiple/pathology ; Adaptor Proteins, Signal Transducing/genetics ; Cell Adhesion Molecules ; Clathrin Heavy Chains/genetics ; DNA/chemistry ; DNA/isolation & purification ; DNA/metabolism ; DNA Copy Number Variations ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Meningocele/pathology ; Neoplasm Proteins/genetics ; Phenotype ; Pilot Projects ; Polymorphism, Single Nucleotide ; Sacrococcygeal Region/pathology ; Sequence Analysis, DNA
    SCR Disease Name:
    Sacral defect and anterior sacral meningocele
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes.
    Autorzy:
    Wong JK; Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 1F Room 5D HKJCBIR, 5 Sassoon Road, Hong Kong, SAR, China.
    Campbell D; Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 1F Room 5D HKJCBIR, 5 Sassoon Road, Hong Kong, SAR, China.
    Ngo ND; National Hospital of Pediatrics, Hanoi, Vietnam.
    Yeung F; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
    Cheng G; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
    Tang CS; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
    Chung PH; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
    Tran NS; National Hospital of Pediatrics, Hanoi, Vietnam.
    So MT; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
    Cherny SS; Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 1F Room 5D HKJCBIR, 5 Sassoon Road, Hong Kong, SAR, China.; Center for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
    Sham PC; Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 1F Room 5D HKJCBIR, 5 Sassoon Road, Hong Kong, SAR, China.; Center for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Centre for Reproduction, Development, and Growth, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
    Tam PK; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Centre for Reproduction, Development, and Growth, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
    Garcia-Barcelo MM; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China. .; Centre for Reproduction, Development, and Growth, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China. .
    Pokaż więcej
    Źródło:
    BMC medical genomics [BMC Med Genomics] 2016 Dec 12; Vol. 9 (1), pp. 75. Date of Electronic Publication: 2016 Dec 12.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Computational Biology*
    Choledochal Cyst/*genetics
    Evolution, Molecular ; Female ; Genetic Predisposition to Disease/genetics ; Homozygote ; Humans ; Male ; Models, Genetic ; Mutation
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
    Autorzy:
    Liu W; Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou, China. .
    Wong JK; Department of Psychiatry, The University of Hongkong, Hongkong, SAR, China. .
    He Q; Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou, China. .
    Wong EH; Department of Psychiatry, The University of Hongkong, Hongkong, SAR, China. .
    Tang CS; Department of Psychiatry, The University of Hongkong, Hongkong, SAR, China. .; Department of Surgery, The University of Hongkong, Hongkong, SAR, China. .
    Zhang R; Department of Surgery, The University of Hongkong, Hongkong, SAR, China. .
    So MT; Department of Surgery, The University of Hongkong, Hongkong, SAR, China. .
    Wong KK; Department of Surgery, The University of Hongkong, Hongkong, SAR, China. .
    Nicholls J; Department of Pathology, The University of Hongkong, Hongkong, SAR, China. .
    Cherny SS; Department of Psychiatry, The University of Hongkong, Hongkong, SAR, China. .; Center for Genomic Sciences, The University of Hongkong, Hongkong, SAR, China. .
    Sham PC; Department of Psychiatry, The University of Hongkong, Hongkong, SAR, China. .; Center for Genomic Sciences, The University of Hongkong, Hongkong, SAR, China. .; Centre for Reproduction, Development, and Growth of the Li Ka Shing Faculty of Medicine, Hong Kong, SAR, China. .; State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong, SAR, China. .
    Tam PK; Department of Surgery, The University of Hongkong, Hongkong, SAR, China. .; Center for Genomic Sciences, The University of Hongkong, Hongkong, SAR, China. .; Centre for Reproduction, Development, and Growth of the Li Ka Shing Faculty of Medicine, Hong Kong, SAR, China. .; State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong, SAR, China. .
    Garcia-Barcelo MM; Department of Surgery, The University of Hongkong, Hongkong, SAR, China. .; Center for Genomic Sciences, The University of Hongkong, Hongkong, SAR, China. .; Centre for Reproduction, Development, and Growth of the Li Ka Shing Faculty of Medicine, Hong Kong, SAR, China. .; State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong, SAR, China. .
    Xia H; Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou, China. .
    Pokaż więcej
    Źródło:
    BMC medical genetics [BMC Med Genet] 2015 Jul 16; Vol. 16, pp. 49. Date of Electronic Publication: 2015 Jul 16.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Gene Deletion*
    Mosaicism*
    Sex Chromosome Aberrations*
    Collagen Type IV/*genetics
    Esophageal Neoplasms/*genetics
    Leiomyomatosis/*genetics
    Adolescent ; Asian People ; Chromosomes, Human, X ; Esophageal Neoplasms/pathology ; Family ; Female ; Humans ; Leiomyomatosis/pathology ; Male ; Nephritis, Hereditary/genetics ; Nephritis, Hereditary/pathology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Targeted next-generation sequencing on Hirschsprung disease: a pilot study exploits DNA pooling.
    Autorzy:
    Gui H; Department of Surgery, The University of Hong Kong, Hong Kong, SAR, China; Department of Psychiatry, The University of Hong Kong, Hong Kong, SAR, China.
    Bao JY
    Tang CS
    So MT
    Ngo DN
    Tran AQ
    Bui DH
    Pham DH
    Nguyen TL
    Tong A
    Lok S
    Sham PC
    Tam PK
    Cherny SS
    Garcia-Barcelo MM
    Pokaż więcej
    Źródło:
    Annals of human genetics [Ann Hum Genet] 2014 Sep; Vol. 78 (5), pp. 381-7. Date of Electronic Publication: 2014 Jun 20.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't; Validation Study
    MeSH Terms:
    Asian People/*genetics
    Genotyping Techniques/*methods
    High-Throughput Nucleotide Sequencing/*methods
    Hirschsprung Disease/*genetics
    Signal Transduction/*genetics
    Enteric Nervous System/physiology ; Female ; Humans ; Male ; Pilot Projects ; Polymorphism, Single Nucleotide/genetics ; Sensitivity and Specificity ; Signal Transduction/physiology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.
    Autorzy:
    So MT; Department of Surgery, University of Hong Kong, Hong Kong, China.
    Leon TY
    Cheng G
    Tang CS
    Miao XP
    Cornes BK
    Diem NN
    Cui L
    Ngan ES
    Lui VC
    Wu XZ
    Wang B
    Wang H
    Yuan ZW
    Huang LM
    Li L
    Xia H
    Zhu D
    Liu J
    Nguyen TL
    Chan IH
    Chung PH
    Liu XL
    Zhang R
    Wong KK
    Sham PC
    Cherny SS
    Tam PK
    Garcia-Barcelo MM
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2011; Vol. 6 (12), pp. e28986. Date of Electronic Publication: 2011 Dec 09.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Predisposition to Disease*
    Asian People/*genetics
    Hirschsprung Disease/*genetics
    Mutation/*genetics
    Proto-Oncogene Proteins c-ret/*genetics
    China ; Evaluation Studies as Topic ; Haplotypes/genetics ; Hirschsprung Disease/classification ; Humans ; Open Reading Frames/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    HOXB5 cooperates with NKX2-1 in the transcription of human RET.
    Autorzy:
    Zhu J; Department of Surgery, Development & Growth, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
    Garcia-Barcelo MM
    Tam PK
    Lui VC
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2011; Vol. 6 (6), pp. e20815. Date of Electronic Publication: 2011 Jun 03.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Transcription, Genetic*
    Homeodomain Proteins/*metabolism
    Nuclear Proteins/*metabolism
    Proto-Oncogene Proteins c-ret/*metabolism
    Transcription Factors/*metabolism
    Animals ; Base Sequence ; Binding Sites ; Cell Line, Tumor ; Enteric Nervous System/physiology ; Gene Expression Regulation, Developmental ; Hirschsprung Disease/genetics ; Hirschsprung Disease/metabolism ; Homeodomain Proteins/genetics ; Humans ; Molecular Sequence Data ; Nuclear Proteins/genetics ; Phenotype ; Promoter Regions, Genetic ; Proto-Oncogene Proteins c-ret/genetics ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; Thyroid Nuclear Factor 1 ; Transcription Factors/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
    Autorzy:
    Cornes BK; Paediatric Surgery Division, Department of Surgery, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People's Republic of China.
    Tang CS
    Leon TY
    Hui KJ
    So MT
    Miao X
    Cherny SS
    Sham PC
    Tam PK
    Garcia-Barcelo MM
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2010 Jun 02; Vol. 5 (6), pp. e10918. Date of Electronic Publication: 2010 Jun 02.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Founder Effect*
    Haplotypes*
    Mutation*
    Hirschsprung Disease/*genetics
    Proto-Oncogene Proteins c-ret/*genetics
    Case-Control Studies ; China ; Hirschsprung Disease/ethnology ; Humans ; Polymorphism, Single Nucleotide
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-12 z 12

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