Resultados de procura - Bertoli-Avella, Aida

Reply letter to Battke et al. por Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Bauer, Peter

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A comprehensive global genotype–phenotype database for rare diseases por Trujillano, Daniel, Oprea, Gabriela‐Elena, Schmitz, Yvonne, Bertoli‐Avella, Aida M., Abou Jamra, Rami, Rolfs, Arndt

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A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? por Brusse, Esther, Majoor-Krakauer, Danielle, de Graaf, Bianca M., Visser, Gerhard H., Swagemakers, Sigrid, Boon, Agnita J.W., Oostra, Ben A., Bertoli-Avella, Aida M.

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Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene por Punzo, Francesca, Bertoli-Avella, Aida M, Scianguetta, Saverio, Della Ragione, Fulvio, Casale, Maddalena, Ronzoni, Luisa, Cappellini, Maria D, Forni, Gianluca, Oostra, Ben A, Perrotta, Silverio

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A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity por Conte, Maria Luisa, Bertoli-Avella, Aida M., de Graaf, Bianca M., Punzo, Francesca, Lama, Giuliana, La Manna, Angela, Grassia, Carolina, Rambaldi, Pier Francesco, Oostra, Ben A., Perrotta, Silverio

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Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome por Cardoso-dos-Santos, Augusto C., Oliveira Silva, Thiago, Silveira Faccini, Anderson, Woycinck Kowalski, Thayne, Bertoli-Avella, Aida, Morales Saute, Jonas A., Schuler-Faccini, Lavinia, de Oliveira Poswar, Fabiano

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Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors por Poulton, Cathryn J., Schot, Rachel, Kia, Sima Kheradmand, Jones, Marta, Verheijen, Frans W., Venselaar, Hanka, de Wit, Marie-Claire Y., de Graaff, Esther, Bertoli-Avella, Aida M., Mancini, Grazia M.S.

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Novel clinical and genetic insight into CXorf56-associated intellectual disability por Rocha, Maria Eugenia, Silveira, Tainá Regina Damaceno, Sasaki, Erina, Sás, Daíse Moreno, Lourenço, Charles Marques, Kandaswamy, Krishna K., Beetz, Christian, Rolfs, Arndt, Bauer, Peter, Reardon, Willie, Bertoli-Avella, Aida M.

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Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis por Arora, Veronica, Khan, Suliman, W. El-Hattab, Ayman, Dua Puri, Ratna, Rocha, Maria Eugenia, Merdzanic, Rijad, Paknia, Omid, Beetz, Christian, Rolfs, Arndt, Bertoli-Avella, Aida M., Bauer, Peter, Verma, Ishwar C.

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ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux por Bertoli-Avella, Aida M., Conte, Maria Luisa, Punzo, Francesca, de Graaf, Bianca M., Lama, Giuliana, La Manna, Angela, Polito, Cesare, Grassia, Carolina, Nobili, Bruno, Rambaldi, Pier Francesco, Oostra, Ben A., Perrotta, Silverio

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Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population por Bauer, Peter, Kandaswamy, Krishna Kumar, Weiss, Maximilian E. R., Paknia, Omid, Werber, Martin, Bertoli-Avella, Aida M., Yüksel, Zafer, Bochinska, Malgorzata, Oprea, Gabriela E., Kishore, Shivendra, Weckesser, Volkmar, Karges, Ellen, Rolfs, Arndt

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Identification of RNA binding motif proteins essential for cardiovascular development por Maragh, Samantha, Miller, Ronald A, Bessling, Seneca L, McGaughey, David M, Wessels, Marja W, de Graaf, Bianca, Stone, Eric A, Bertoli-Avella, Aida M, Gearhart, John D, Fisher, Shannon, McCallion, Andrew S

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A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population por Liu, Fan , Arias-Vásquez, Alejandro , Sleegers, Kristel , Aulchenko, Yurii S. , Kayser, Manfred , Sanchez-Juan, Pascual , Feng, Bing-Jian , Bertoli-Avella, Aida M. , van Swieten, John , Axenovich, Tatiana I. , Heutink, Peter , van Broeckhoven, Christine , Oostra, Ben A. , van Duijn, Cornelia M. 

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Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder por Vegt, Rinus, Bertoli-Avella, Aida M, Tulen, Joke H M, de Graaf, Bianca, Verkerk, Annemieke J M H, Vervoort, Jeroen, Twigt, Carla M, Maat-Kievit, Anneke, van Tuijl, Ruud, van der Lijn, Marieke, Hengeveld, Michiel W, Oostra, Ben A

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Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection with Intracranial and Other Arterial Aneurysms por Regalado, Ellen S., Guo, Dong-chuan, Villamizar, Carlos, Avidan, Nili, Gilchrist, Dawna, McGillivray, Barbara, Clarke, Lorne, Bernier, Francois, Santos-Cortez, Regie L., Leal, Suzanne M., Bertoli-Avella, Aida M., Shendure, Jay, Rieder, Mark J., Nickerson, Deborah A, Milewicz, Dianna M.

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Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families por Greenbaum, Lior, Pode-Shakked, Ben, Eisenberg-Barzilai, Shlomit, Dicastro-Keidar, Michal, Bar-Ziv, Anat, Goldstein, Nurit, Reznik-Wolf, Haike, Poran, Hana, Rigbi, Amihai, Barel, Ortal, Bertoli-Avella, Aida M., Bauer, Peter, Regev, Miriam, Raas-Rothschild, Annick, Pras, Elon, Berkenstadt, Michal

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Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability por Bertoli-Avella, Aida M., Garcia-Aznar, Jose M., Brandau, Oliver, Al-Hakami, Fahad, Yüksel, Zafer, Marais, Anett, Grüning, Nana-Maria, Abbasi Moheb, Lia, Paknia, Omid, Alshaikh, Nahla, Alameer, Seham, Marafi, Makia J., Al-Mulla, Fahd, Al-Sannaa, Nouriya, Rolfs, Arndt, Bauer, Peter

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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility por Cheema, Huma, Bertoli-Avella, Aida M., Skrahina, Volha, Anjum, Muhammad Nadeem, Waheed, Nadia, Saeed, Anjum, Beetz, Christian, Perez-Lopez, Jordi, Rocha, Maria Eugenia, Alawbathani, Salem, Pereira, Catarina, Hovakimyan, Marina, Patric, Irene Rosita Pia, Paknia, Omid, Ameziane, Najim, Cozma, Claudia, Bauer, Peter, Rolfs, Arndt

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A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development por Rahikkala, Elisa, Urpa, Lea, Ghimire, Bishwa, Topa, Hande, Kurki, Mitja I., Koskela, Maryna, Airavaara, Mikko, Hämäläinen, Eija, Pylkäs, Katri, Körkkö, Jarmo, Savolainen, Helena, Suoranta, Anu, Bertoli-Avella, Aida, Rolfs, Arndt, Mattila, Pirkko, Daly, Mark, Palotie, Aarno, Pietiläinen, Olli, Moilanen, Jukka, Kuismin, Outi

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Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems por Brooks, Alice S. , Bertoli-Avella, Aida M. , Burzynski, Grzegorz M. , Breedveld, Guido J. , Osinga, Jan , Boven, Ludolf G. , Hurst, Jane A. , Mancini, Grazia M. S. , Lequin, Maarten H. , de Coo, Rene F. , Matera, Ivana , de Graaff, Esther , Meijers, Carel , Willems, Patrick J. , Tibboel, Dick , Oostra, Ben A. , Hofstra, Robert M. W. 

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