Pulmonary non-tuberculous mycobacteria and Mycobacterium tuberculosis complex co-infection: A pragmatic approach to its diagnosis and management in South Africa by C Opperman, S Singh, Y Ghebrekristos, R Warren, W Goosen

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High order expression dependencies finely resolve cryptic states and subtypes in single cell data by Abel Jansma, Yuelin Yao, Jareth Wolfe, Luigi Del Debbio, Sjoerd V Beentjes, Chris P Ponting, Ava Khamseh

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Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient by Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, Bregje W. M. van Bon

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Replication-IDentifier links epigenetic and metabolic pathways to the replication stress response by Sophie C. van der Horst, Leonie Kollenstart, Amandine Batté, Sander Keizer, Kees Vreeken, Praveen Pandey, Andrei Chabes, Haico van Attikum

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Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation by Soukaina Essadssi, Al Mehdi Krami, Lamiae Elkhattabi, Zouhair Elkarhat, Ghita Amalou, Houria Abdelghaffar, Hassan Rouba, Abdelhamid Barakat

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Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease by Dyah W. Karjosukarso, Femke Bukkems, Lonneke Duijkers, Tomasz Z. Tomkiewicz, Julia Kiefmann, Andrei Sarlea, Sander Bervoets, Irene Vázquez-Domínguez, Laurie L. Molday, Robert S. Molday, Mihai G. Netea, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin

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A Case of False Negative NIPT for Down Syndrome-Lessons Learned by Meagan Smith, Kimberly M. Lewis, Alexandrea Holmes, Jeannie Visootsak

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Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes by D. Hettiarachchi, B. A. P. S. Pathirana, P. J. Kumarasiri, V. H. W. Dissanayake

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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants by Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia Jacko, Sandy Rubio, Emanuel Loeza-Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, Francois Gros-Louis, Michael S. Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar S. Padiath

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Phytochemical and pharmacological review of Erica Genus (L.) Ericaceae plants by Francis Adu-Amankwaah, Hleziphi V. Mpundu, Kudakwashe Nyambo, Paula Strauss, Kudzanai Ian Tapfuma, Ndivhuwo Tshililo, Motunrayo Victoria Badejo, Lawrence Mabasa, Vuyo Mavumengwana, Lucinda Baatjies

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Culture-independent detection of Mycobacterium tuberculosis complex DNA using targeted next generation sequencing in African buffalo (Syncerus caffer) oronasal swabs in South Afric... by Sinegugu Kholeka Mhlophe, Charlene Clarke, Giovanni Ghielmetti, Giovanni Ghielmetti, Megan Matthews, Tanya Jane Kerr, Michele Ann Miller, Wynand Johan Goosen, Wynand Johan Goosen

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Nephronophthisis: A Genetically Diverse Ciliopathy by Roslyn J. Simms, Ann Marie Hynes, Lorraine Eley, John A. Sayer

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Correction: The impact of the physicochemical properties of calcium phosphate ceramics on biocompatibility and osteogenic differentiation of mesenchymal stem cells by Yuliia Skliarenko, Volodymyr V. Kolomiiets, Volodymyr V. Balatskyi, Yuliia Galuza, Oksana S. Koryak, Larysa L. Macewicz, Tetiana P. Ruban, Sergey A. Firstov, Nataliia. V. Ulianchych, Oksana O. Piven

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Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature by C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, L. P. C. Saman Kumara, V. H. W. Dissanayake

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Mosaic loss of the Y chromosome in human neurodegenerative and oncological diseases by I. L. Kuznetsova, L. I. Uralsky, T. V. Tyazhelova, T. V. Andreeva, E. I. Rogaev

“…The development of new biomarkers for prediction and early detection of human diseases, as well as for monitoring the response to therapy is one of the most relevant areas of modern human genetics and genomics. Until recently, it was believed that the function of human Y chromosome genes was limited to determining sex and controlling spermatogenesis. …”
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An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene by Madhura Milind Nimonkar, Gautham Arunachal, Ananthapadmanabha Kotambail, Ramya Sukrutha, Kenchaiah Raghavendra, Ghati K Chetan, Bhupesh Mehta, Yogananda S. Markandeya

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HDAC10 and its implications in Sézary syndrome pathogenesis by Monika Pieniawska, Karolina Rassek, Bogumiła Skwara, Magdalena Żurawek, Iwona Ziółkowska-Suchanek, Lydia Visser, Monique Lodewijk, Małgorzata Sokołowska-Wojdyło, Małgorzata Sokołowska-Wojdyło, Berenika Olszewska, Roman J. Nowicki, Roman J. Nowicki, Tomasz Stein, Aleksandra Dańczak-Pazdrowska, Adriana Polańska, Marta Szymoniak-Lipska, Natalia Rozwadowska, Katarzyna Iżykowska

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PneumoniaCheck, a novel aerosol collection device, permits capture of airborne Mycobacterium tuberculosis and characterisation of the cough aeromicrobiome in people with tuberculos... by Tinaye L. Chiyaka, Georgina R. Nyawo, Charissa C. Naidoo, Suventha Moodley, Jose C. Clemente, Stephanus T. Malherbe, Robin M. Warren, David N. Ku, Leopoldo N. Segal, Grant Theron

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KaRhab: an international online registry for cardiac rhabdomyomas by Vera-Maria Herrmann, Maria Arelin, Caroline G. Bergner, Julia Herrmann, Paula Janz, Henriette Kiep, Annika Mueller, Steffen Syrbe, Robert Wagner, Bardo Wannenmacher, Nadine Wolf, Michael Weidenbach, Vincent Strehlow

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Signaling Pathway of Nucleotide-Binding Oligomerization Domain-Containing Protein 1 and Potential Therapeutic Targets for Regulating the Gut Microbiota of Individuals with Gallston... by Sanjana Murali, Nandini Krishnamurthy, R. B. Devi Krishna, Shanthi Vijayaraghavan, S. Rajesh Kumar, Andrea Mary Francis

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