Rezultati - Alejandro Ferrer

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  1. 1
    Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype

    Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype od Alejandro Ferrer, Rodrigo Tzovenos Starosta, Wasantha Ranatunga, Dániel Ungár, Tamás Kozicz, Eric W. Klee, Laura Rust, Myra J. Wick, Éva Morava

    Izdano 2020
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  2. 2
    Inverse Association of Telomere Length With Liver Disease and Mortality in the US Population

    Inverse Association of Telomere Length With Liver Disease and Mortality in the US Population od Puru Rattan, Daniel D. Penrice, Joseph Ahn, Alejandro Ferrer, Mrinal M. Patnaik, Vijay H. Shah, Patrick S. Kamath, Abhishek A. Mangaonkar, Douglas A. Simonetto

    Izdano 2021
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  3. 3
    Ae2-Deficient Mice Develop Antimitochondrial Antibodies and Other Features Resembling Primary Biliary Cirrhosis

    Ae2-Deficient Mice Develop Antimitochondrial Antibodies and Other Features Resembling Primary Biliary Cirrhosis od January T. Salas, Jesús M. Bañales, Sarai Sarvide, Sergio Recalde, Alejandro Ferrer, Iker Uriarte, Ronald P.J. Oude Elferink, Jesús Prìeto, Juan Francisco Medina Gallardo

    Izdano 2008
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  4. 4
    Clinical and Biochemical Phenotypes in a Family With <i>ENPP1</i> Mutations

    Clinical and Biochemical Phenotypes in a Family With <i>ENPP1</i> Mutations od Anupam Kotwal, Alejandro Ferrer, Rajiv Kumar, Ravinder Singh, Vishakantha Murthy, Laura Schultz‐Rogers, Michael T. Zimmermann, Brendan C. Lanpher, Kristin M. Zimmerman Savill, Paul R. Stabach, Eric W. Klee, Demetrios T. Braddock, Robert A. Wermers

    Izdano 2019
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  5. 5
    Prevalence of cytopenia(s) and somatic variants in patients with <i>DDX41</i> mutant germline predisposition syndrome

    Prevalence of cytopenia(s) and somatic variants in patients with <i>DDX41</i> mutant germline predisposition syndrome od Yael Kusne, Talha Badar, Terra L. Lasho, Ludovica Marando, Abhishek A. Mangaonkar, Christy Finke, James M. Foran, Aref Al‐Kali, Jeanne Palmer, Cecilia Y. Arana Yi, Hassan B. Alkhateeb, Naseema Gangat, David S. Viswanatha, Mark R. Litzow, Timothy M. Chlon, Alejandro Ferrer, Mrinal M. Patnaik

    Izdano 2025
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  6. 6
    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome od Theodore G. Drivas, Dong Li, Divya Nair, Joseph T. Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E. Martina Bebin, Nicole L. Bertsch, Patrick R. Blackburn, Alyssa Blesson, Arjan Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M. Cooper, Jonas Denecke, Anne Dieux‐Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren Bartik, Lauren Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W. Klee, Katja Kloth, Baiba Lāce, Marina Macchiaiolo, Julien L. Marcadier, Jeff M. Milunsky, Melanie P. Napier, Xilma R. Ortiz‐González, Pavel N. Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen Rasmussen, Deborah L. Renaud, Eric T. Rush, Carol Saunders, Duygu Selcen, Ann Seman, Deepali N. Shinde, Erica D. Smith, Thomas Smol, Lot Snijders Blok, Joan M. Stoler, Sha Tang, Marco Tartaglia, Michelle L. Thompson, Jiddeke M. van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H. Zackai, Giuseppe Zampino, Philippe M. Campeau, Elizabeth Bhoj

    Izdano 2020
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  7. 7
    Impact of integrated translational research on clinical exome sequencing

    Impact of integrated translational research on clinical exome sequencing od Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo, Joel A. Morales‐Rosado, Erica L. Macke, W. Garrett Jenkinson, Alejandro Ferrer, Laura Schultz‐Rogers, Rory J. Olson, Gavin R. Oliver, Ashley N. Sigafoos, Tanya L. Schwab, Michael T. Zimmermann, Raúl Urrutia, Charu Kaiwar, Aditi Gupta, Patrick R. Blackburn, Nicole J. Boczek, Carri A. Prochnow, Rebecca J. Lowy, Lindsay A. Mulvihill, Tammy M. McAllister, Stacy L. Aoudia, Teresa Kruisselbrink, Lauren Gunderson, Jennifer L. Kemppainen, Laura J. Fisher, Jessica M. Tarnowski, Megan M. Hager, Sarah A. Kroc, Nicole L. Bertsch, Katherine Agre, Jessica L. Jackson, Sarah K. Macklin‐Mantia, Marine I. Murphree, Laura Rust, Jolene M. Summer Bolster, Scott A. Beck, Paldeep S. Atwal, Marissa S. Ellingson, Sarah Barnett, Kristen Rasmussen, Carrie A. Lahner, Zhiyv Niu, Linda Hasadsri, Matthew J. Ferber, Cherisse A. Marcou, Karl J. Clark, Pavel N. Pichurin, David R. Deyle, Eva Morava‐Kozicz, Ralitza H. Gavrilova, Radhika Dhamija, Klaas J. Wierenga, Brendan C. Lanpher, Dusica Babovic‐Vuksanovic, Gianrico Farrugia, Lisa A. Schimmenti, A. Keith Stewart, Konstantinos N. Lazaridis

    Izdano 2020
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