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Items where Author is "Balzano, Sara"

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Jump to: 2021 | 2016
Number of items: 5.

2021

Ruberto, Francesco Paolo and Balzano, Sara and Namburi, Prasanthi and Kimchi, Adva and Pescini-Gobert, Rosanna and Obolensky, Alexey and Banin, Eyal and Ben-Yosef, Tamar and Sharon, Dror and Rivolta, Carlo. (2021) Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression. Molecular Vision, 27. pp. 107-116.

Allou, Lila and Balzano, Sara and Magg, Andreas and Quinodoz, Mathieu and Royer-Bertrand, Beryl and Schöpflin, Robert and Chan, Wing-Lee and Speck-Martins, Carlos E. and Carvalho, Daniel Rocha and Farage, Luciano and Lourenço, Charles Marques and Albuquerque, Regina and Rajagopal, Srilakshmi and Nampoothiri, Sheela and Campos-Xavier, Belinda and Chiesa, Carole and Niel-Bütschi, Florence and Wittler, Lars and Timmermann, Bernd and Spielmann, Malte and Robson, Michael I. and Ringel, Alessa and Heinrich, Verena and Cova, Giulia and Andrey, Guillaume and Prada-Medina, Cesar A. and Pescini-Gobert, Rosanna and Unger, Sheila and Bonafé, Luisa and Grote, Phillip and Rivolta, Carlo and Mundlos, Stefan and Superti-Furga, Andrea. (2021) Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature, 592. pp. 93-98.

2016

Nikopoulos, Konstantinos and Farinelli, Pietro and Giangreco, Basilio and Tsika, Chrysanthi and Royer-Bertrand, Beryl and Mbefo, Martial K. and Bedoni, Nicola and Kjellström, Ulrika and El Zaoui, Ikram and Di Gioia, Silvio Alessandro and Balzano, Sara and Cisarova, Katarina and Messina, Andrea and Decembrini, Sarah and Plainis, Sotiris and Blazaki, Styliani V. and Khan, Muhammad Imran and Micheal, Shazia and Boldt, Karsten and Ueffing, Marius and Moulin, Alexandre P. and Cremers, Frans P. M. and Roepman, Ronald and Arsenijevic, Yvan and Tsilimbaris, Miltiadis K. and Andréasson, Sten and Rivolta, Carlo. (2016) Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. American Journal of Human Genetics, 99 (3). pp. 770-776.

Bedoni, Nicola and Haer-Wigman, Lonneke and Vaclavik, Veronika and Tran, Viet H. and Farinelli, Pietro and Balzano, Sara and Royer-Bertrand, Beryl and El-Asrag, Mohammed E. and Bonny, Olivier and Ikonomidis, Christos and Litzistorf, Yan and Nikopoulos, Konstantinos and Yioti, Georgia G. and Stefaniotou, Maria I. and McKibbin, Martin and Booth, Adam P. and Ellingford, Jamie M. and Black, Graeme C. and Toomes, Carmel and Inglehearn, Chris F. and Hoyng, Carel B. and Bax, Nathalie and Klaver, Caroline C. W. and Thiadens, Alberta A. and Murisier, Fabien and Schorderet, Daniel F. and Ali, Manir and Cremers, Frans P. M. and Andréasson, Sten and Munier, Francis L. and Rivolta, Carlo. (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555.

van Karnebeek, Clara D. M. and Bonafé, Luisa and Wen, Xiao-Yan and Tarailo-Graovac, Maja and Balzano, Sara and Royer-Bertrand, Beryl and Ashikov, Angel and Garavelli, Livia and Mammi, Isabella and Turolla, Licia and Breen, Catherine and Donnai, Dian and Cormier-Daire, Valérie and Heron, Delphine and Nishimura, Gen and Uchikawa, Shinichi and Campos-Xavier, Belinda and Rossi, Antonio and Hennet, Thierry and Brand-Arzamendi, Koroboshka and Rozmus, Jacob and Harshman, Keith and Stevenson, Brian J. and Girardi, Enrico and Superti-Furga, Giulio and Dewan, Tammie and Collingridge, Alissa and Halparin, Jessie and Ross, Colin J. and Van Allen, Margot I. and Rossi, Andrea and Engelke, Udo F. and Kluijtmans, Leo A. J. and van der Heeft, Ed and Renkema, Herma and de Brouwer, Arjan and Huijben, Karin and Zijlstra, Fokje and Heise, Torben and Boltje, Thomas and Wasserman, Wyeth W. and Rivolta, Carlo and Unger, Sheila and Lefeber, Dirk J. and Wevers, Ron A. and Superti-Furga, Andrea. (2016) NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nature Genetics, 48 (7). pp. 777-784.

This list was generated on Thu Mar 28 11:30:25 2024 CET.