Výsledky vyhledávání - Longoni, Mauro

Use of oxidized regenerated cellulose to achieve hemostasis during laparoscopic cholecystectomy: a retrospective cohort analysis Autor Masci, Emilia, Faillace, Giuseppe, Longoni, Mauro

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A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis Autor Pober, Barbara R., Longoni, Mauro, Noonan, Kristin M.

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Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies Autor Donahoe, Patricia K., Longoni, Mauro, High, Frances A.

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Evaluation of 1p36 markers and clinical outcome in a skull base chordoma study Autor Longoni, Mauro, Orzan, Francesca, Stroppi, Michela, Boari, Nicola, Mortini, Pietro, Riva, Paola

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Use of Human Fibrin Glue (Tissucol) Versus Staples for Mesh Fixation in Laparoscopic Transabdominal Preperitoneal Hernioplasty: A Prospective, Randomized Study Autor Lovisetto, Federico, Zonta, Sandro, Rota, Emanuela, Mazzilli, Massimiliano, Bardone, Marco, Bottero, Luca, Faillace, Giuseppe, Longoni, Mauro

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De Novo Frameshift Mutation in COUP-TFII (NR2F2) in Human Congenital Diaphragmatic Hernia Autor High, Frances A., Bhayani, Pooja, Wilson, Jay M., Bult, Carol J., Donahoe, Patricia K., Longoni, Mauro

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MiR-449a Affects Epithelial Proliferation during the Pseudoglandular and Canalicular Phases of Avian and Mammal Lung Development Autor Sanford, Ethan L., Choy, Kwong W., Donahoe, Patricia K., Tracy, Adam A., Hila, Regis, Loscertales, Maria, Longoni, Mauro

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Type IV collagen drives alveolar epithelial–endothelial association and the morphogenetic movements of septation Autor Loscertales, Maria, Nicolaou, Fotini, Jeanne, Marion, Longoni, Mauro, Gould, Douglas B., Sun, Yunwei, Maalouf, Faouzi I., Nagy, Nandor, Donahoe, Patricia K.

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Erratum to: Type IV collagen drives alveolar epithelial–endothelial association and the morphogenetic movements of septation Autor Loscertales, Maria, Nicolaou, Fotini, Jeanne, Marion, Longoni, Mauro, Gould, Douglas B., Sun, Yunwei, Maalouf, Faouzi I., Nagy, Nandor, Donahoe, Patricia K.

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Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome Autor Anglani, Franca, Terrin, Liliana, Brugnara, Milena, Battista, Michele, Cantaluppi, Vincenzo, Ceol, Monica, Bertoldi, Loris, Valle, Giorgio, Joy, Maliackal P., Pober, Barbara R, Longoni, Mauro

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Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance Autor Jones, Kelly L., McNamara, Erin A., Longoni, Mauro, Miller, Danny E., Rohanizadegan, Mersedeh, Newman, Laura A., Hayes, Frances, Levitsky, Lynne L., Herrington, Betty L., Lin, Angela E.

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Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes Autor Russell, Meaghan K., Longoni, Mauro, Wells, Julie, Maalouf, Faouzi I., Tracy, Adam A., Loscertales, Maria, Ackerman, Kate G., Pober, Barbara R., Lage, Kasper, Bult, Carol J., Donahoe, Patricia K.

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Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH Autor Kantarci, Sibel, Ackerman, Kate G, Russell, Meaghan N, Longoni, Mauro, Sougnez, Carrie, Noonan, Kristin M, Hatchwell, Eli, Zhang, Xiaoyun, Vanmarcke, Rafael Pieretti, Anyane-Yeboa, Kwame, Dickman, Paul, Wilson, Jay, Donahoe, Patricia K, Pober, Barbara R

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Genome-wide enrichment of damaging de novo variants in patients with isolated and complex Congenital Diaphragmatic Hernia Autor Longoni, Mauro, High, Frances A., Qi, Hongjian, Joy, Maliackal P., Hila, Regis, Coletti, Caroline M., Wynn, Julia, Loscertales, Maria, Shan, Linshan, Bult, Carol J., Wilson, Jay M., Shen, Yufeng, Chung, Wendy K., Donahoe, Patricia K.

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Systematic analysis of copy number variation associated with congenital diaphragmatic hernia Autor Zhu, Qihui, High, Frances A., Zhang, Chengsheng, Cerveira, Eliza, Russell, Meaghan K., Longoni, Mauro, Joy, Maliackal P., Ryan, Mallory, Mil-homens, Adam, Bellfy, Lauren, Coletti, Caroline M., Bhayani, Pooja, Hila, Regis, Wilson, Jay M., Donahoe, Patricia K., Lee, Charles

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Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics Autor Longoni, Mauro, High, Frances A., Russell, Meaghan K., Kashani, Alireza, Tracy, Adam A., Coletti, Caroline M., Hila, Regis, Shamia, Ahmed, Wells, Julie, Ackerman, Kate G., Wilson, Jay M., Bult, Carol J., Lee, Charles, Lage, Kasper, Pober, Barbara R., Donahoe, Patricia K.

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Congenital Diaphragmatic Hernia Interval on Chromosome 8p23.1 Characterized by Genetics and Protein Interaction Networks Autor Longoni, Mauro, Lage, Kasper, Russell, Meaghan K., Loscertales, Maria, Abdul-Rahman, Omar A., Baynam, Gareth, Bleyl, Steven B., Brady, Paul D., Breckpot, Jeroen, Chen, Chih P., Devriendt, Koenraad, Gillessen-Kaesbach, Gabriele, Grix, Arthur W., Rope, Alan F., Shimokawa, Osamu, Strauss, Bernarda, Wieczorek, Dagmar, Zackai, Elaine H., Coletti, Caroline M., Maalouf, Faouzi I., Noonan, Kristin M., Park, Ji H., Tracy, Adam A., Lee, Charles, Donahoe, Patricia K., Pober, Barbara R.

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De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders Autor Qi, Hongjian, Yu, Lan, Zhou, Xueya, Wynn, Julia, Zhao, Haoquan, Guo, Yicheng, Zhu, Na, Kitaygorodsky, Alexander, Hernan, Rebecca, Aspelund, Gudrun, Lim, Foong-Yen, Crombleholme, Timothy, Cusick, Robert, Azarow, Kenneth, Danko, Melissa E., Chung, Dai, Warner, Brad W., Mychaliska, George B., Potoka, Douglas, Wagner, Amy J., ElFiky, Mahmoud, Wilson, Jay M., Nickerson, Debbie, Bamshad, Michael, High, Frances A., Longoni, Mauro, Donahoe, Patricia K., Chung, Wendy K., Shen, Yufeng

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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies Autor Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldomery, Mohammad K., Akdemir, Zeynep Coban, Lewis, Andrea M., Sutton, Vernon R., Rosenfeld, Jill A., Conboy, Erin, Agre, Katherine, Xia, Fan, Walkiewicz, Magdalena, Longoni, Mauro, High, Frances A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S., Finnila, Candice R., van Haeringen, Arie, den Hollander, Nicolette, Ruivenkamp, Claudia, Naidu, Sakkubai, Mahida, Sonal, Palmer, Elizabeth E., Murray, Lucinda, Lim, Derek, Jayakar, Parul, Parker, Michael J., Giusto, Stefania, Stracuzzi, Emanuela, Romano, Corrado, Beighley, Jennifer S., Bernier, Raphael A., Küry, Sébastien, Nizon, Mathilde, Corbett, Mark A., Shaw, Marie, Gardner, Alison, Barnett, Christopher, Armstrong, Ruth, Kassahn, Karin S., Van Dijck, Anke, Vandeweyer, Geert, Kleefstra, Tjitske, Schieving, Jolanda, Jongmans, Marjolijn J., de Vries, Bert B.A., Pfundt, Rolph, Kerr, Bronwyn, Rojas, Samantha K., Boycott, Kym M., Person, Richard, Willaert, Rebecca, Eichler, Evan E., Kooy, R. Frank, Yang, Yaping, Wu, Joseph C., Lupski, James R., Arnesen, Thomas, Cooper, Gregory M., Chung, Wendy K., Gecz, Jozef, Stessman, Holly A.F., Meng, Linyan, Lyon, Gholson J.

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