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La Bianca , Martina
Research Output
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
, Bottega Roberta, Marzollo Antonio, Marinoni Maddalena, Athanasakis Emmanouil, Persico Ilaria, Bianco Anna Monica Rosaria, Faleschini Michela, Valencic Erica, Simoncini Daniela, Rossini Linda, Corsolini Fabio, La Bianca Martina, Robustelli Giuseppe, Gabelli Maria, Agosti Massimo, Biffi Alessandra, Grotto Paolo, Bozzi Valeria, Noris Patrizia, Burlina Alberto B, D'Adamo Adamo Pio, Tommasini Alberto, Faletra Flavio, Pastore Annalisa, Savoia Anna, Savoia Anna
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
, Thomas W. Winkler, Humaira Rasheed, Alexander Teumer, Mathias Gorski, Bryce X. Rowan, Kira J. Stanzick, Laurent F. Thomas, Adrienne Tin, Anselm Hoppmann, Audrey Y. Chu, Bamidele Tayo, Chris H. L. Thio, Daniele Cusi, Jin-Fang Chai, Karsten B. Sieber, Katrin Horn, Man Li, Markus Scholz, Cocca Massimiliano, Matthias Wuttke, Peter J. van der Most, Qiong Yang, Sahar Ghasemi, Teresa Nutile, Yong Li, Giulia Pontali, Felix Günther, Abbas Dehghan, Adolfo Correa, Afshin Parsa, Agnese Feresin, Aiko P. J. de Vries, Alan B. Zonderman, Albert V. Smith, Albertine J. Oldehinkel, Alessandro De Grandi, Alexander R. Rosenkranz, Andre Franke, Andrej Teren, Andres Metspalu, Andrew A. Hicks, Andrew P. Morris, Anke Tönjes, Morgan Anna, Anna I. Podgornaia, Annette Peters, Antje Körner, Anubha Mahajan, Archie Campbell, Barry I. Freedman, Beatrice Spedicati, Belen Ponte, Ben Schöttker, Ben Brumpton, Bernhard Banas, Bernhard K. Krämer, Bettina Jung, Bjørn Olav Åsvold, Blair H. Smith, Boting Ning, Brenda W. J. H. Penninx, Brett R. Vanderwerff, Bruce M. Psaty, Candace M. Kammerer, Carl D. Langefeld, Caroline Hayward, Cassandra N. Spracklen, Cassianne Robinson-Cohen, Catharina A. Hartman, Cecilia M. Lindgren, Chaolong Wang, Charumathi Sabanayagam, Chew-Kiat Heng, Chiara Lanzani, Chiea-Chuen Khor, Ching-Yu Cheng, Christian Fuchsberger, Christian Gieger, Christian M. Shaffer, Christina-Alexandra Schulz, Cristen J. Willer, Daniel I. Chasman, Daniel F. Gudbjartsson, Daniela Ruggiero, Daniela Toniolo, Darina Czamara, David J. Porteous, Dawn M. Waterworth, Deborah Mascalzoni, Dennis O. Mook-Kanamori, Dermot F. Reilly, E. Warwick Daw, Edith Hofer, Eric Boerwinkle, Erika Salvi, Erwin P. Bottinger, E-Shyong Tai, Catamo Eulalia, Federica Rizzi, Feng Guo, Fernando Rivadeneira, Franco Guilianini, Gardar Sveinbjornsson, Georg Ehret, Gerard Waeber, Ginevra Biino, Girotto Giorgia, Giorgio Pistis, Girish N. Nadkarni, Graciela E. Delgado, Grant W. Montgomery, Harold Snieder, Harry Campbell, Harvey D. White, He Gao, Heather M. Stringham, Helena Schmidt, Hengtong Li, Hermann Brenner, Hilma Holm, Holgen Kirsten, Holly Kramer, Igor Rudan, Ilja M. Nolte, Ioanna Tzoulaki, Isleifur Olafsson, Jade Martins, James P. Cook, James F. Wilson, Jan Halbritter, Janine F. Felix, Jasmin Divers, Jaspal S. Kooner, Jeannette Jen-Mai Lee, Jeffrey O¿Connell, Jerome I. Rotter, Jianjun Liu, Jie Xu, Joachim Thiery, Johan Ärnlöv, Johanna Kuusisto, Johanna Jakobsdottir, Johanne Tremblay, John C. Chambers, John B. Whitfield, John M. Gaziano, Jonathan Marten, Josef Coresh, Jost B. Jonas, Josyf C. Mychaleckyj, Kaare Christensen, Kai-Uwe Eckardt, Karen L. Mohlke, Karlhans Endlich, Katalin Dittrich, Kathleen A. Ryan, Kenneth M. Rice, Kent D. Taylor, Kevin Ho, Kjell Nikus, Koichi Matsuda, Konstantin Strauch, Kozeta Miliku, Kristian Hveem, Lars Lind, Lars Wallentin, Laura M. Yerges-Armstrong, Laura M. Raffield, Lawrence S. Phillips, Lenore J. Launer, Leo-Pekka Lyytikäinen, Leslie A. Lange, Lorena Citterio, Lucija Klaric, M. Arfan Ikram, Marcus Ising, Marcus E. Kleber, Margherita Francescatto, Concas Maria Pina, Marina Ciullo, Mario Piratsu, Marju Orho-Melander, Markku Laakso, Markus Loeffler, Markus Perola, Martin H. de Borst, Martin Gögele, La Bianca Martina, Mary Ann Lukas, Mary F. Feitosa, Mary L. Biggs, Mary K. Wojczynski, Maryam Kavousi, Masahiro Kanai, Masato Akiyama, Masayuki Yasuda, Matthias Nauck, Melanie Waldenberger, Miao-Li Chee, Miao-Ling Chee, Michael Boehnke, Michael H. Preuss, Michael Stumvoll, Michael A. Province, Michele K. Evans, Michelle L. O¿Donoghue, Michiaki Kubo, Mika Kähönen, Mika Kastarinen, Mike A. Nalls, Mikko Kuokkanen, Mohsen Ghanbari, Murielle Bochud, Nicholas G. Martin, Nicholas Y. Q. Tan, Nicholette D. Palmer, Nicola Pirastu, Nicole Schupf, Niek Verweij, Nina Hutri-Kähönen, Nina Mononen, Nisha Bansal, Olivier Devuyst, Olle Melander, Olli T. Raitakari, Ozren Polasek, Paolo Manunta, Gasparini Paolo, Pashupati P. Mishra, Patrick Sulem, Patrik K. E. Magnusson, Paul Elliott, Paul M. Ridker, Pavel Hamet, Per O. Svensson, Peter K. Joshi, Peter Kovacs, Peter P. Pramstaller, Peter Rossing, Peter Vollenweider, Pim van der Harst, Rajkumar Dorajoo, Ralene Z. H. Sim, Ralph Burkhardt, Ran Tao, Raymond Noordam, Reedik Mägi, Reinhold Schmidt, Renée de Mutsert, Rico Rueedi, Rob M. van Dam, Robert J. Carroll, Ron T. Gansevoort, Ruth J. F. Loos, Sala Cinzia Felicita, Sanaz Sedaghat, Sandosh Padmanabhan, Sandra Freitag-Wolf, Sarah A. Pendergrass, Sarah E. Graham, Scott D. Gordon, Shih-Jen Hwang, Shona M. Kerr, Simona Vaccargiu, Snehal B. Patil, Stein Hallan, Stephan J. L. Bakker, Su-Chi Lim, Susanne Lucae, Suzanne Vogelezang, Sven Bergmann, Tanguy Corre, Tarunveer S. Ahluwalia, Terho Lehtimäki, Thibaud S. Boutin, Thomas Meitinger, Tien-Yin Wong, Tobias Bergler, Ton J. Rabelink, Tõnu Esko, Toomas Haller, Unnur Thorsteinsdottir, Uwe Völker, Valencia Hui Xian Foo, Veikko Salomaa, Veronique Vitart, Vilmantas Giedraitis, Vilmundur Gudnason, Vincent W. V. Jaddoe, Wei Huang, Weihua Zhang, Wen Bin Wei, Wieland Kiess, Winfried März, Wolfgang Koenig, Wolfgang Lieb, Xin Gao, Xueling Sim, Ya Xing Wang, Yechiel Friedlander, Yih-Chung Tham, Yoichiro Kamatani, Yukinori Okada, Yuri Milaneschi, Zhi Yu, Chris H. L. Thio, Peter J. van der Most, Kevin Ho, Navya Shilpa Josyula, Sarah A. Pendergrass, Bryce X. Rowan, Cassianne Robinson-Cohen, John M. Gaziano, Lawrence S. Phillips, Ran Tao, Adriana M. Hung, Klaus J. Stark, Kari Stefansson, Carsten A. Böger, Florian Kronenberg, Anna Köttgen, Cristian Pattaro, Iris M. Heid
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
, Musante Luciana, Faletra Flavio, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Edward Blair, Sally North, Jutta Gärtner, Susann Diegmann, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, David Murphy, Murru Flora Maria, Zanus Caterina, Magnolato Andrea, La Bianca Martina, Agnese Feresin, Girotto Giorgia, Gasparini Paolo, Costa Paola, Carrozzi Marco, Musante Luciana
Genetic insights into biological mechanisms governing human ovarian ageing
, # These authors contributed equally to this work., Ruth K.S., Day F.R., Hussain J., MartÃnez-Marchal A., Aiken C.E., Azad A., Thompson D.J., Knoblochova L., Abe H., Tarry-Adkins J.L., Gonzalez J.M., Fontanillas P., Claringbould A., Bakker O.B., Sulem P., Walters R.G., Terao C., Turon S., Horikoshi M., Lin K., Onland-Moret N.C., Sankar A., Hertz E.P.T., Timshel P.N., Shukla V., Borup R., Olsen K.W., Aguilera P., Ferrer-Roda M., Huang Y., Stankovic S., Timmers P.R.H.J., Ahearn T.U., Alizadeh B.Z., Naderi E., Andrulis I.L., Barbieri C.M., Catamo Eulalia, Ciullo M., Mezzavilla Massimo, Joshi P.K., La Bianca Martina, Milani L., Porcu E., Robino Antonietta, Rudan Iva, Ruggiero D., Sala C.F., Toniolo D., Ulivi Sheila
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
, Musante Luciana, Costa Paola, Zanus Caterina, Faletra Flavio, Murru Flora Maria, Bianco Anna Monica Rosaria, La Bianca Martina, Giulia Ragusa, Emmanouil Athanasakis, D'Adamo Adamo Pio, Carrozzi Marco, Gasparini Paolo, Musante Luciana
Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder
, Vincenzo Dattilo, Ulivi Sheila, Alessandra Minelli, La Bianca Martina, Edoardo Giacopuzzi, Marco Bortolomasi, Stefano Bignotti, Massimo Gennarelli, Gasparini Paolo, Concas Maria Pina
Taste perception and expression in stomach of bitter taste receptor tas2r38 in obese and lean subjects
, Robino Antonietta, Rosso Natalia, Guerra Martina, Corleone Pio, Casagranda Biagio, Giraudi Pablo J., Tiribelli Claudio, Simeth Catrin, Monica Fabio, La Bianca Martina, Gasparini Paolo, de Manzini Nicolò, Palmisano Silvia, Robino Antonietta
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss
, Morgan Anna, Faletra Flavio, Giulia Severi, La Bianca Martina, Laura Licchetta, Gasparini Paolo, Claudio Graziano, Girotto Giorgia, Morgan Anna
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
, Ilaria Persico, Agnese Feresin, Faleschini Michela, FONTANA GIORGIA, Fabio Sirchia, Faletra Flavio, La Bianca Martina, Suergiu Sarah, Morgutti Marcello, Maschio Massimo, D'Adamo Adamo Pio, Karen S. Raraigh, Savoia Anna, Bottega Roberta