Search Results - Bertoli-Avella, Aida M.

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

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A comprehensive global genotype–phenotype database for rare diseases by 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? by 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 by 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 by 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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Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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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Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems by 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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Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome by Ali Alghamdi, Malak, Benabdelkamel, Hicham, Masood, Afshan, Saheb Sharif-Askari, Narjes, Hachim, Mahmood Y., Alsheikh, Hamad, Hamad, Muddathir H., Salih, Mustafa A., Bashiri, Fahad A., Alhasan, Khalid, Kashour, Tarek, Guatibonza Moreno, Pilar, Schröder, Sabine, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Alkhalidi, Hisham, Jamjoom, Dima Z., Alorainy, Ibrahim A., Alfadda, Assim A., Halwani, Rabih

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Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy by Verkerk, Annemieke J.M.H., Schot, Rachel, Dumee, Belinda, Schellekens, Karlijn, Swagemakers, Sigrid, Bertoli-Avella, Aida M., Lequin, Maarten H., Dudink, Jeroen, Govaert, Paul, van Zwol, A.L., Hirst, Jennifer, Wessels, Marja W., Catsman-Berrevoets, Coriene, Verheijen, Frans W., de Graaff, Esther, de Coo, Irenaeus F.M., Kros, Johan M., Willemsen, Rob, Willems, Patrick J., van der Spek, Peter J., Mancini, Grazia M.S.

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