검색어 : 통합검색[Human molecular genetics 3]
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41
- An efficient algorithm for the extraction of HGVS variant descriptions from sequences
- Vis, Jonathan K.; Vermaat, Martijn; Taschner, Peter E. M.; Kok, Joost N.; Laros, Jeroen F. J.; 1Department of Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands,; 3Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands,; 3Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands,; 1Department of Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands,; 3Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands,; (Bioinformatics, v.31, 2015, pp.3751-3757)
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42
- Novel genetic polymorphisms identified in the clinical isolates of <i>Mycobacterium tuberculosis</i> PE_PGRS33 gene modulate cytokines expression and promotes survival in macrophages
- Gupta, Rahul; Pandey, Manitosh; Pandey, Amit Kumar; Tiwari, Pramod Kumar; Amrathlal, Rabbind Singh; Centre for Genomics, Molecular and Human Genetics, Jiwaji University; Translational Health Science and Technology Institute, NCR Biotech Science 3Cluster; Translational Health Science and Technology Institute, NCR Biotech Science 3Cluster; Centre for Genomics, Molecular and Human Genetics, Jiwaji University; Centre for Genomics, Molecular and Human Genetics, Jiwaji University; (Journal of infection and public health, v.15, 2022, pp.245-254)
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43
- Extra-embryonic function of Rb is essential for embryonic development and viability
- Wu, Lizhao; de Bruin, Alain; Saavedra, Harold I.; Starovic, Maja; Trimboli, Anthony; Yang, Ying; Opavska, Jana; Wilson, Pamela; Thompson, John C.; Ostrowski, Michael C.; Rosol, Thomas J.; Woollett, Laura A.; Weinstein, Michael; Cross, James C.; Robinson, Michael L.; Leone, Gustavo; ; (Nature, v.421, 2003, pp.942-947)
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44
- Cytokinesis remnants define first neuronal asymmetry in vivo
- Pollarolo, Giulia; Schulz, Joachim G; Munck, Sebastian; Dotti, Carlos G; 1] Vlaams Instituut voor Biotechnologie, Department of Molecular and Developmental Genetics, Campus Gasthuisberg, Leuven, Belgium. [2] Katholieke Universiteit Leuven Center for Human Genetics, Campus Gasthuisberg, Leuven, Belgium. [3]; 1] Vlaams Instituut voor Biotechnologie, Department of Molecular and Developmental Genetics, Campus Gasthuisberg, Leuven, Belgium. [2] Katholieke Universiteit Leuven Center for Human Genetics, Campus Gasthuisberg, Leuven, Belgium. [3]; 1] Vlaams Instituut voor Biotechnologie, Department of Molecular and Developmental Genetics, Campus Gasthuisberg, Leuven, Belgium. [2] Katholieke Universiteit Leuven Center for Human Genetics, Campus Gasthuisberg, Leuven, Belgium.; 1] Vlaams Instituut voor Biotechnologie, Department of Molecular and Developmental Genetics, Campus Gasthuisberg, Leuven, Belgium. [2] Katholieke Universiteit Leuven Center for Human Genetics, Campus Gasthuisberg, Leuven, Belgium. [3] Centro de Biolog챙a Molecular Severo Ochoa, Universitad A; (Nature neuroscience, v.14, 2011, pp.1525-1533)
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45
- Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis
- Paunio, Tiina; Kangas, Hannele; Kiuru, Sari; Palo, Jorma; Peltonen, Leena; Syvä nen, Ann-Christine; Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, 00300 Helsinki, Finland; Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, 00300 Helsinki, Finland; Department of Neurology, Helsinki University Central Hospital, Haartmaninkatu 3, 00280 Helsinki, Finland; Department of Neurology, Helsinki University Central Hospital, Haartmaninkatu 3, 00280 Helsinki, Finland; Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, 00300 Helsinki, Finland; Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, 00300 Helsinki, Finland; (FEBS letters, v.406, 1997, pp.49-55)
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46
- X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
- Jensen, Lars Riff; Lenzner, Steffen; Moser, Bettina; Freude, Kristine; Tzschach, Andreas; Wei, Chen; Fryns, Jean-Pierre; Chelly, Jamel; Turner, Gillian; Moraine, Claude; Hamel, Ben; Ropers, Hans-Hilger; Kuss, Andreas Walter; 1Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany; 1Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany; 1Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany; 1Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany; 1Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany; 1Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany; 2Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium; 3Dé partement de Gé né tique et Pathologie Molé culaire, Institut Cochin, Paris, France; 4Hunter Genetics and University of Newcastle, New South Wales, Australia; 5Services de Gé né tique-INSERM U316, CHU Bretonneau, Tours, France; 6Department of Human Genetics,; (European journal of human genetics : EJHG, v.15, 2007, pp.68-75)
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47
- Multiple <i>de novo</i> copy number variations in two subjects with developmental problems and multiple congenital anomalies
- Liu, Pengfei; Walter, Klaudia; Writzl, Karin; Gelowani, Violet; Lindsay, Sarah; Carvalho, Claudia MB; Withers, Marjorie; Wiszniewska, Joanna; Patel, Ankita; Rautenstrauss, Bernd; Hurles, Matthew E; Lupski, James R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Wellcome Trust Sanger Institute, Hinxton, UK; Institute of Medical Genetics, UMC, Ljubljana, Slovenia; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Wellcome Trust Sanger Institute, Hinxton, UK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Genetics Center, Bayerstrasse 3-5, Munich, Germany; Wellcome Trust Sanger Institute, Hinxton, UK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; (BMC proceedings, v.6, 2012, pp.P25-P25)
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48
- Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers
- Briggs, Sarah; Tomlinson, Ian; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford Roosevelt Drive, Oxford, OX3 7BN, UK; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford Roosevelt Drive, Oxford, OX3 7BN, UK; (The Journal of pathology : a journal of the Pathological Society of Great Britain and Ireland, v.230, 2013, pp.148-153)
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49
- Comparison of two different culture conditions for derivation of early hiPSC
- Hey, Caroline A. B.; Saltõ kova, Katarina B.; Bisgaard, Hanne C.; Møller, Lisbeth B.; Applied Human Molecular Genetics Clinical Genetics Clinic, Kennedy Center Copenhagen University Hospital Glostrup DK‐ 2600 Denmark; Applied Human Molecular Genetics Clinical Genetics Clinic, Kennedy Center Copenhagen University Hospital Glostrup DK‐ 2600 Denmark; Faculty of Health and Medical Sciences Department of Cellular and Molecular Medicine University of Copenhagen Blegdamsvej 3 DK‐ 2200 Copenhagen N Denmark; Applied Human Molecular Genetics Clinical Genetics Clinic, Kennedy Center Copenhagen University Hospital Glostrup DK‐ 2600 Denmark; (Cell biology international, v.42, 2018, pp.1467-1473)
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50
- Identification of novel hypoxia dependent and independent target genes of the von Hippel-Lindau (VHL) tumour suppressor by mRNA differential expression profiling
- Wykoff, Charles C; Pugh, Christopher W; Maxwell, Patrick H; Harris, Adrian L; Ratcliffe, Peter J; Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK; Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK; Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK; Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, UK; Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK; (Oncogene, v.19, 2000, pp.6297-6305)
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