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

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Quantifying human genome parameters in aging by V. P. Volobaev, S. S. Kunizheva, L. I. Uralsky, D. A. Kupriyanova, E. I. Rogaev

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QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration by Jayshree Advani, Puja A. Mehta, Andrew R. Hamel, Sudeep Mehrotra, Christina Kiel, Tobias Strunz, Ximena Corso-Díaz, Madeline Kwicklis, Freekje van Asten, Rinki Ratnapriya, Emily Y. Chew, Dena G. Hernandez, Sandra R. Montezuma, Deborah A. Ferrington, Bernhard H. F. Weber, Ayellet V. Segrè, Anand Swaroop

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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

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Expression Analysis of ATP-Binding Cassette Transporters ABCB11 and ABCB4 in Primary Sclerosing Cholangitis and Variety of Pediatric and Adult Cholestatic and Noncholestatic Liver... by Cornelia Thoeni, Ruediger Waldherr, Jutta Scheuerer, Stefanie Schmitteckert, Ralph Roeth, Beate Niesler, Ernest Cutz, Christa Flechtenmacher, Benjamin Goeppert, Peter Schirmacher, Felix Lasitschka

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A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder by Soha S. Mahdi, Eduarda Caldeira, Harold Matthews, Michiel Vanneste, Nele Nauwelaers, Meng Yuan, Giorgos Bouritsas, Gareth S. Baynam, Peter Hammond, Richard Spritz, Ophir D. Klein, Michael Bronstein, Benedikt Hallgrimsson, Hilde Peeters, Peter Claes

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Monitoring M-Protein, Therapeutic Antibodies, and Polyclonal Antibodies in a Multiparametric Mass Spectrometry Assay Provides Insight into Therapy Response Kinetics in Patients wit... by Charissa Wijnands, Peter G. A. Karel, Jolein Gloerich, Gad Armony, Anastasia Tzasta, Corrie M. de Kat Angelino, Luciano Di Stefano, Vincent Bonifay, Theo M. Luider, Martijn M. VanDuijn, Sandra J. Croockewit, Elizabeth A. de Kort, Daan A. R. Castelijn, Claudia A. M. Stege, Hans J. C. T. Wessels, Alain J. van Gool, Niels W. C. J. van de Donk, Joannes F. M. Jacobs

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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa by A. M. Ali, R. M. Mbwasi, G. Kinabo, E.-J. Kamsteeg, B. C. Hamel, M. C. J. Dekker

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Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome by Catarina Silvestre, Juliette Dupont, Rosário Silveira Santos, Brígida Robalo, Carla Pereira, Maria Lurdes Sampaio

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Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T by Josef Finsterer, Claudia Stöllberger, Matthias Hasun, Korbinian Riedhammer, Mathias Wagner

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Whole genomic analysis uncovers high genetic diversity of rifampicin-resistant Mycobacterium tuberculosis strains in Botswana by Tuelo Mogashoa, Tuelo Mogashoa, Johannes Loubser, Ontlametse T. Choga, Ontlametse T. Choga, Justice Tresor Ngom, Wonderful T. Choga, Wonderful T. Choga, Mpaphi B. Mbulawa, Tuduetso Molefi, One Stephen, Topo Makhondo, Kedumetse Seru, Patience Motshosi, Boitumelo Zuze, Joseph Makhema, Rosemary M. Musonda, Dimpho Otukile, Chawangwa Modongo, Botshelo T. Kgwaadira, Keabetswe Fane, Simani Gaseitsiwe, Rob M. Warren, Sikhulile Moyo, Sikhulile Moyo, Sikhulile Moyo, Sikhulile Moyo, Anzaan Dippenaar, Elizabeth M. Streicher

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Exome sequencing in Nigerian children with early‐onset epilepsy syndromes by Ibitayo Abigail Ademuwagun, Yagoub Adam, Solomon Oladapo Rotimi, Steffen Syrbe, Maximilian Radtke, Julia Hentschel, Johannes R. Lemke, Ezekiel Adebiyi

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Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report by Carolin Seeling, Sonja Dahlum, Ralf Marienfeld, Vera Jan, Brigitte Rack, Uwe Gerstenmaier, Ambros J. Beer, Regine Mayer-Steinacker, Wolfgang Thaiss, Thomas F. E. Barth, Thomas Seufferlein, Nadine T. Gaisa, Stephan Stilgenbauer, Wolfgang Janni, Reiner Siebert, Hartmut Döhner, Verena I. Gaidzik

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Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood by Amy L. Shackelford, Laura K. Conlin, Marybeth Hummel, Nancy B. Spinner, Sharon L. Wenger

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Upregulation of FOXO3 in New-Onset Type 1 Diabetes Mellitus by Magdalena Zurawek, Marta Fichna, Piotr Fichna, Maria Czainska, Natalia Rozwadowska

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AT2 Receptor-Interacting Proteins ATIPs in the Brain by Sylvie Rodrigues-Ferreira, Erwann le Rouzic, Traci Pawlowski, Anand Srivastava, Florence Margottin-Goguet, Clara Nahmias

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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

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T Cells Immunology in the Immunological Diseases by Xiuli Wu, Grzegorz K. Przybylski, Qintai Yang, Qifa Liu

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Cardiovascular Risk Factors and Distributions of the Ankle-Brachial Index among Type 2 Diabetes Mellitus Patients by Badaruddoza Doza, Manpreet Kaur, Sonia Chopra, Rohit Kapoor

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Venoms and Extracellular Vesicles: A New Frontier in Venom Biology by Auwal A. Bala, Naoual Oukkache, Elda E. Sanchez, Montamas Suntravat, Jacob A. Galan

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