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1. Advances in Molecular Biology (Istanbul Kultur Universitesi)

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Science -- Chemistry -- Organic chemistry

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2. American Journal of Human Genetics

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펼치기 닫기
1
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications. 미리보기

학술저널

issue
Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 639-654. Date of Electronic Publication: 2024 Feb 19.
Author
Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Nair KV; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Prasannakumar AP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Chaurasia A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Hunakunti B; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Jadhav N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Farooqui S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Kothiwale V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Naik R; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Aroor S; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Lewis L; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Purkayastha J; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Bhat YR; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Praveen BK; Department of Pediatrics, Father Muller Medical College Hospital, Mangalore, India.
Yatheesha BL; Paediatric neurology, Dheemahi Child Neurology and Development Center, Shimoga, India.
Patil SJ; Division of Medical Genetics, Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India.
Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India.
Kamath N; Department of Paediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, India.
Siddiqui S; Department of Neuro and Vascular Interventional Radiology, Yashoda Hospitals, Hyderabad, India.
Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Suma Genomics Private Limited, Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India.; Department of Genetics, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman.
Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
DB Label
Database : MEDLINE
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Full Text (Wiley-DB)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
7
Identification of polymorphic markers for germplasm conservation of three precious Chinese palace goldfish using whole-genome sequencing. 미리보기

학술저널

issue
Animal genetics [Anim Genet] 2024 Jun; Vol. 55 (3), pp. 484-489. Date of Electronic Publication: 2024 Mar 18.
Author
Huang Y; College of Fisheries, Engineering Research Center of Green Development for Conventional Aquatic Biological Industry in the Yangtze River Economic Belt, Ministry of Education, Huazhong Agricultural University, Wuhan, China.
Cao A; Beijing Fisheries Technology Promotion Station, Beijing, China.
Zhang B; College of Fisheries, Engineering Research Center of Green Development for Conventional Aquatic Biological Industry in the Yangtze River Economic Belt, Ministry of Education, Huazhong Agricultural University, Wuhan, China.
Li S; Beijing Fisheries Technology Promotion Station, Beijing, China.
He C; Beijing Fisheries Technology Promotion Station, Beijing, China.
Gao J; College of Fisheries, Engineering Research Center of Green Development for Conventional Aquatic Biological Industry in the Yangtze River Economic Belt, Ministry of Education, Huazhong Agricultural University, Wuhan, China.
Cao X; College of Fisheries, Engineering Research Center of Green Development for Conventional Aquatic Biological Industry in the Yangtze River Economic Belt, Ministry of Education, Huazhong Agricultural University, Wuhan, China.
DB Label
Database : MEDLINE
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10
Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia. 미리보기

학술저널

issue
JCI insight [JCI Insight] 2024 May 22; Vol. 9 (10). Date of Electronic Publication: 2024 May 22.
Author
Giménez Y; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
Palacios M; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
Sánchez-Domínguez R; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
Zorbas C; RNA Molecular Biology, Fonds de la Recherche Scientifique (FRS/FNRS), Université libre de Bruxelles (ULB), Biopark campus, Gosselies, Belgium.
Peral J; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
Puzik A; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Ugalde L; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
Alberquilla O; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
Villanueva M; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
Río P; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
Gálvez E; Hospital del Niño Jesús, Madrid, Spain.
Da Costa L; AP-HP, Hematology diagnostic laboratory, Hôpital Robert-Debré, Paris, France.; University of Paris; Hematim, UR4666, UPJV; LABEX GR-EX, Paris, France.
Strullu M; AP-HP, service Immuno-Hématologie pédiatique, Hôpital R. Debré, Paris, France.
Catala A; Hospital San Joan D'Deu, Barcelona, Spain.
Ruiz-Llobet A; Hospital San Joan D'Deu, Barcelona, Spain.
Segovia JC; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
Sevilla J; Hospital del Niño Jesús, Madrid, Spain.
Strahm B; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Niemeyer CM; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Beléndez C; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Sección de Hematología y Oncología Pediátricas, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.
Leblanc T; AP-HP, service Immuno-Hématologie pédiatique, Hôpital R. Debré, Paris, France.
Lafontaine DL; RNA Molecular Biology, Fonds de la Recherche Scientifique (FRS/FNRS), Université libre de Bruxelles (ULB), Biopark campus, Gosselies, Belgium.
Bueren J; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
Navarro S; Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain.
DB Label
Database : MEDLINE
원문보기
Open Access (PubMed Central)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
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