One step forward for subterranean biology by Oana Moldovan

Get full text

Population size and dispersal patterns for a Drimeotus (Coleoptera, Leiodidae, Leptodirini) cave population by Akos Fejér, Oana Moldovan

Get full text

Assessing copepod (Crustacea: Copepoda) species richness at different spatial scales in northwestern Romanian caves by Ioana N. Meleg, Frank Fiers, Oana Moldovan

Get full text

Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético by Rita Martins, Oana Moldovan, Ana Berta Sousa, António Levy, Sofia Quintas

Get full text

Cardiac Anderson-Fabry disease: Lessons from a 25-year-follow up by Dulce Brito, Gabriel Miltenberger–Miltenyi, Oana Moldovan, Carmen Navarro, Hugo Costa Madeira

Get full text

Cardiovascular manifestations of type IV Ehlers-Danlos syndrome – A case report by Tiago Sepúlveda Santos, Rita Marçal, Oana Moldovan, Leonor Carvalho, José Luís Ducla-Soares

Get full text

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal by Ana Catarina Alves, Ana Catarina Alves, Beatriz Miranda, Beatriz Miranda, Oana Moldovan, Raquel Espírito Santo, Raquel Gouveia Silva, Sandra Soares Cardoso, Luísa Diogo, Mónica Seidi, Mónica Seidi, Silvia Sequeira, Mafalda Bourbon, Mafalda Bourbon

Get full text

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD by Sofia Jorge, Kendrah Kidd, Petr Vylet’al, Estela Nogueira, Lauren Martin, Katrice Howard, Veronika Barešová, Kateřina Hodaňová, Aleš Hnízda, Oana Moldovan, Catarina Silveira, Ana Margarida Coutinho, José António Lopes, Anthony J. Bleyer, Stanislav Kmoch, Martina Živná

Get full text

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndro... by Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M Maas, Yves Lacassie, Soo-Hyun Kim, Woo-Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol-Hee Kim, Lawrence C. Layman, Hyung-Goo Kim

Get full text

Continental data on cave-dwelling spider communities across Europe (Arachnida: Araneae) by Stefano Mammola, Pedro Cardoso, Dorottya Angyal, Gergely Balázs, Theo Blick, Hervé Brustel, Julian Carter, Srećko Ćurčić, Samuel Danflous, László Dányi, Sylvain Déjean, Christo Deltshev, Mert Elverici, Jon Fernández, Fulvio Gasparo, Marjan Komnenov, Christian Komposch, L’ubomír Kováč, Kadir Kunt, Andrej Mock, Oana Moldovan, Maria Naumova, Martina Pavlek, Carlos Prieto, Carles Ribera, Robert Rozwałka, Vlastimil Růžička, Robert Vargovitsh, Stefan Zaenker, Marco Isaia

Get full text

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures by Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga

Get full text

P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies* by Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski

Get full text

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype by Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, Mafalda Bourbon, Quitéria Rato, Ana Catarina Alves, Ana Margarida Medeiros, Ana Catarina Gomes, Ana Cristina Ferreira, Ana Gaspar, Ana Margarida Marques, Ana Maria Garabal, Ana Paula Bogalho, Ana Rita Pereira, Anabela Raimundo, André Travessa, Andreia Lopes, António Afonso, António Furtado, António Guerra, António Monteiro, António Trindade, Armindo Ribeiro, Bernardo Dias Pereira, Bernardo Marques, Carla Laranjeira, Catarina Senra Moniz, Cecília Frutuoso, Cláudia Falcão Reis, Cláudia Rodrigues, Clementina Fernandes, Conceição Ferreira, Daniel Ferreira, Diogo Torres, Elisabete Martins, Elsa Gaspar, Fabiana Pimentel, Fernando Simões, Francisco Araújo, Francisco Silva, Goreti Lobarinhas, Graça Morais, Guida Gama, Guilherme Lourenço, Helena Mansilha, Helena Pereira, Heloísa Santos, Henedina Antunes, Inês Batista Gomes, Inês Colaço, Isabel Azevedo, Isabel Palma, João Anselmo, João Porto, João Ramos, João Sequeira Duarte, Jorge Pintado Alves, José Miguel Salgado, José Pereira de Moura, Leonor Sassetti, Lina Cardoso Ramos, Luísa Diogo Matos, Luísa Mota Vieira, Luísa Pires, Márcio de Moura, Margarida Bruges, Margarida Venâncio, Maria do Rosário Barroso, Maria João Virtuoso, Maria Luísa Gonçalves, Mário Martins Oliveira, Mendes Nunes, Miguel Costa, Miguel Mendes, Miguel Toscano Rico, Mónica Tavares, Natalina Miguel, Oana Moldovan, Olga Azevedo, Patrícia Lipari Pinto, Patrícia Pais, Patrícia Vasconcelos, Paula Garcia, Paula Martins, Pedro Marques da Silva, Piedade Lemos, Quitéria Rato, Raquel Coelho, Raquel Gouveia da Silva, Raquel Ribeiro, Rita Jotta de Oliveira, Roberto Pinto, Sandra Pereira, Sérgio Ferreira Cristina, Sílvia Sequeira, Susana Correia, Tânia Vassalo, Tiago Pack, Vânia Martins, Vera Frazão Vieira

Get full text