검색어 : 통합검색[Human molecular genetics 3]
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121
- Refined assignment of the infantile neuronal ceroid‐lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics
- Hellsten, E.; Vesa, J.; Jä rvelä , I.; Mä kelä , T. P.; Santavuori, P.; Peltonen, L.; Laboratory of Human Molecular Genetics National Public Health Institute Mannerheimintie 166 Helsinki 00300 Finland; Laboratory of Human Molecular Genetics National Public Health Institute Mannerheimintie 166 Helsinki 00300 Finland; Laboratory of Human Molecular Genetics National Public Health Institute Mannerheimintie 166 Helsinki 00300 Finland; Cancer Biology Laboratory, Departments of Virology and Pathology University of Helsinki Haartmaninkatu 3 Helsinki 00290 Finland; Department of Child Neurology University of Helsinki Stenbä ckinkatu 11 Helsinki 00290 Finland; Laboratory of Human Molecular Genetics National Public Health Institute Mannerheimintie 166 Helsinki 00300 Finland; (Journal of inherited metabolic disease, v.16, 1993, pp.335-338)
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122
- A Molecular Troika of Angiogenesis, Coagulopathy and Endothelial Dysfunction in the Pathology of Avascular Necrosis of Femoral Head: A Comprehensive Review
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Singh, Monica;
Singh, Baani;
Sharma, Kirti;
Kumar, Nitin;
Mastana, Sarabjit;
Singh, Puneetpal;
Division of Molecular Genetics, Department of Human Genetics, Punjabi University, Patiala 147002, India;
singhmonica2017@gmail.com (M.S.); ; Division of Molecular Genetics, Department of Human Genetics, Punjabi University, Patiala 147002, India;singhmonica2017@gmail.com (M.S.); ; Division of Molecular Genetics, Department of Human Genetics, Punjabi University, Patiala 147002, India;singhmonica2017@gmail.com (M.S.); ; Division of Molecular Genetics, Department of Human Genetics, Punjabi University, Patiala 147002, India;singhmonica2017@gmail.com (M.S.); ; Human Genomics Laboratory, School of Sport, Exercise and Health Sciences, Loughborough University, Loughborough LE11 3TU, UK; Division of Molecular Genetics, Department of Human Genetics, Punjabi University, Patiala 147002, India;singhmonica2017@gmail.com (M.S.); (Cells, v.12, 2023, pp.2278)
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123
- Functional characteristics of novel pancreatic Pax6 regulatory elements
- Buckle, Adam; Nozawa, Ryu-suke; Kleinjan, Dirk A; Gilbert, Nick; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XR, UK; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XR, UK; Centre for Mammalian Synthetic Biology, University of Edinburgh, Edinburgh EH9 3FF, UK; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XR, UK; (Human molecular genetics, v.27, 2018, pp.3434-3448)
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124
- The Virtual Fly Brain browser and query interface
- Milyaev, Nestor; Osumi-Sutherland, David; Reeve, Simon; Burton, Nicholas; Baldock, Richard A.; Armstrong, J. Douglas; 1 School of Informatics, University of Edinburgh, Edinburgh, UK, 2Department of Genetics, University of Cambridge, Cambridge, UK and 3MRC Human Genetics Unit and Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK; 1 School of Informatics, University of Edinburgh, Edinburgh, UK, 2Department of Genetics, University of Cambridge, Cambridge, UK and 3MRC Human Genetics Unit and Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK; 1 School of Informatics, University of Edinburgh, Edinburgh, UK, 2Department of Genetics, University of Cambridge, Cambridge, UK and 3MRC Human Genetics Unit and Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK; 1 School of Informatics, University of Edinburgh, Edinburgh, UK, 2Department of Genetics, University of Cambridge, Cambridge, UK and 3MRC Human Genetics Unit and Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK; 1 Sc; (Bioinformatics, v.28, 2012, pp.411-415)
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125
- Report on the External Quality Assessment Scheme for Genetic Disorders and Other Human Genetics Molecular Diagnostics in Korea (2018–2021)
- Heerah Lee; Boram Kim; Man Jin Kim; Jee-Soo Lee; Sung Im Cho; Ho Seop Shin; Moon-Woo Seong; Seoul National University College of Medicine; Seoul National University College of Medicine; Seoul National University College of Medicine; Seoul National University College of Medicine; Seoul National University College of Medicine; Seoul National University College of Medicine; Seoul National University College of Medicine; (Laboratory Medicine and Quality Assurance, v.44, 2022, pp.61-75)
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126
- <I>Sod2</I> knockdown in the musculature has whole-organism consequences in <I>Drosophila</I>
- Martin, Ian; Jones, Melanie A.; Rhodenizer, Devin; Zheng, Jie; Warrick, John M.; Seroude, Laurent; Grotewiel, Mike; ; (Free radical biology & medicine, v.47, 2009, pp.803-813)
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127
- Genetic analysis of the human Y chromosome by chromosome-mediated gene transfer
- Pritchard, Catrin A.; Goodfellow, Peter N.; Laboratory of Human Molecular Genetics. Impenal Cancer Research Fund. PO Box 123. Lincoln ‘s Inn Fields. Londons IVC2/I 3PX. UK; Laboratory of Human Molecular Genetics. Impenal Cancer Research Fund. PO Box 123. Lincoln ‘s Inn Fields. Londons IVC2/I 3PX. UK; (Development, v.101, 1987, pp.59-65)
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128
- Dense linkage disequilibrium mapping in the 15q11–q13 maternal expression domain yields evidence for association in autism
- Nurmi, E L; Amin, T; Olson, L M; Jacob, M M; McCauley, J L; Lam, A Y; Organ, E L; Folstein, S E; Haines, J L; Sutcliffe, J S; ; (Molecular psychiatry, v.8, 2003, pp.570-570)
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129
- Interplay between VGLUT Isoforms and Endophilin A1 Regulates Neurotransmitter Release and Short-Term Plasticity
- Weston, Matthew C.; Nehring, Ralf B.; Wojcik, Sonja M.; Rosenmund, Christian; Departments of Neuroscience and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Departments of Neuroscience and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Max-Planck-Institut fü r Experimentelle Medizin, Abteilung Molekulare Neurobiologie, Hermann-Rein-Strasse 3, D-37075 Gö ttingen, Germany; Departments of Neuroscience and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; (Neuron, v.69, 2011, pp.1147-1159)
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130
- Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene <i>CLUAP1</i>
- Soens, Zachry T.; Li, Yuanyuan; Zhao, Li; Eblimit, Aiden; Dharmat, Rachayata; Li, Yumei; Chen, Yiyun; Naqeeb, Mohammed; Fajardo, Norma; Lopez, Irma; Sun, Zhaoxia; Koenekoop, Robert K.; Chen, Rui; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, United States; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States; Department of Ophthalmology, Um Al Qura University Medical School, Makkah, Saudi Arabia; McGill Ocular Genetics Laboratory and Centre, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, McGill University Health Centre, Montreal, QC H3H 1P3, Canada; McGi; (Genetics in medicine : official journal of the American College of Medical Genetics, v.18, 2016, pp.1044-1051)
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