Showing 1 - 7 results of 7 for search '"Center for Human Genetics"', query time: 0.06s Refine Results
  1. 1
    Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

    Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa by Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Bienvenu Yogolelo Asani, Toni Lubala Kasole, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, François Tshilombo Katombe, Koenraad Devriendt

    Published 2014-01-01
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  2. 2
    Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis

    Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis by F. Staels, W. Meersseman, P. Stordeur, K. Willekens, S. Van Loo, A. Corveleyn, I. Meyts, G. Meyfroidt, R. Schrijvers

    Published 2022-01-01
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  3. 3
    Locally Different Endothelial Nitric Oxide Synthase Protein Levels in Ascending Aortic Aneurysms of Bicuspid and Tricuspid Aortic Valve

    Locally Different Endothelial Nitric Oxide Synthase Protein Levels in Ascending Aortic Aneurysms of Bicuspid and Tricuspid Aortic Valve by Salah A. Mohamed, Arlo Radtke, Roza Saraei, Joern Bullerdiek, Hajar Sorani, Rolf Nimzyk, Antje Karluss, Hans H. Sievers, Gazanfer Belge

    Published 2012-01-01
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  4. 4
    Case Reports in Oncological Medicine Myoepithelioma: A New Rearrangement Involving the LPP Locus in a Case of Multiple Bone and Soft Tissue Lesions

    Case Reports in Oncological Medicine Myoepithelioma: A New Rearrangement Involving the LPP Locus in a Case of Multiple Bone and Soft Tissue Lesions by Géraldine Pairet, Gaëlle Tilman, Rafaël Sciot, Thomas Schubert, Vasiliki Perlepe, Hélène A. Poirel, Christine Galant

    Published 2018-01-01
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  5. 5
    Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy

    Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy by Timothy J Abreo, Emma C Thompson, Anuraag Madabushi, Kristen L Park, Heun Soh, Nissi Varghese, Carlos G Vanoye, Kristen Springer, Jim Johnson, Scotty Sims, Zhigang Ji, Ana G Chavez, Miranda J Jankovic, Bereket Habte, Aamir R Zuberi, Cathleen M Lutz, Zhao Wang, Vaishnav Krishnan, Lisa Dudler, Stephanie Einsele-Scholz, Jeffrey L Noebels, Alfred L George, Atul Maheshwari, Anastasios Tzingounis, Edward C Cooper

    Published 2025-01-01
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  6. 6
    Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal adenocarcinoma

    Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal adenocarcinoma by Li Yan, Qianchuan He, Shiv P. Verma, Xu Zhang, Ann-Sophie Giel, Carlo Maj, Kathryn Graz, Elnaz Naderi, Jianhong Chen, Mourad Wagdy Ali, Puya Gharahkhani, Xiang Shu, Kenneth Offit, Pari M. Shah, Hans Gerdes, Daniela Molena, Amitabh Srivastava, Stuart MacGregor, Claire Palles, René Thieme, Michael Vieth, Ines Gockel, Thomas L. Vaughan, Johannes Schumacher, Matthew F. Buas

    Published 2025-04-01
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  7. 7
    Analysis of Embryoid Bodies Derived from Human Induced Pluripotent Stem Cells as a Means to Assess Pluripotency

    Analysis of Embryoid Bodies Derived from Human Induced Pluripotent Stem Cells as a Means to Assess Pluripotency by Steven D. Sheridan, Vasudha Surampudi, Raj R. Rao

    Published 2012-01-01
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