Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
Ng, Bobby G., Buckingham, Kati J., Raymond, Kimiyo, Kircher, Martin, Turner, Emily H., He, Miao, Smith, Joshua D., Eroshkin, Alexey, Szybowska, Marta, Losfeld, Marie E., Chong, Jessica X., Kozenko, Mariya, Li, Chumei, Patterson, Marc C., Gilbert, Rodney D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Journal Article
Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion
Alharbi, Noran, Asa, Sylvia L, Szybowska, Marta, Kim, Raymond H, Ezzat, Shereen
Published in Frontiers in endocrinology (Lausanne) (01.11.2018)
Published in Frontiers in endocrinology (Lausanne) (01.11.2018)
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Journal Article
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
Curry, Cynthia J., Rosenfeld, Jill A., Grant, Erica, Gripp, Karen W., Anderson, Carol, Aylsworth, Arthur S., Saad, Taha Ben, Chizhikov, Victor V., Dybose, Giedre, Fagerberg, Christina, Falco, Michelle, Fels, Christina, Fichera, Marco, Graakjaer, Jesper, Greco, Donatella, Hair, Jennifer, Hopkins, Elizabeth, Huggins, Marlene, Ladda, Roger, Li, Chumei, Moeschler, John, Nowaczyk, Malgorzata J.M., Ozmore, Jillian R., Reitano, Santina, Romano, Corrado, Roos, Laura, Schnur, Rhonda E., Sell, Susan, Suwannarat, Pim, Svaneby, Dea, Szybowska, Marta, Tarnopolsky, Mark, Tervo, Raymond, Tsai, Anne Chun-Hui, Tucker, Megan, Vallee, Stephanie, Wheeler, Ferrin C, Zand, Dina J., Barkovich, A. James, Aradhya, Swaroop, Shaffer, Lisa G., Dobyns, William B.
Published in American journal of medical genetics. Part A (01.08.2013)
Published in American journal of medical genetics. Part A (01.08.2013)
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Journal Article
Role of signal transducer and activator of transcription 3 (STAT3) in stretch injury to bladder smooth muscle cells
Halachmi, Sarel, Aitken, Karen J, Szybowska, Marta, Sabha, Nesrin, Dessouki, Shariff, Lorenzo, Armando, Tse, Derrick, Bagli, Darius J
Published in Cell and tissue research (01.10.2006)
Published in Cell and tissue research (01.10.2006)
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Journal Article
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome
Hosseini, S Mohsen, Kim, Raymond, Udupa, Sharmila, Costain, Gregory, Jobling, Rebekah, Liston, Eriskay, Jamal, Seema M, Szybowska, Marta, Morel, Chantal F, Bowdin, Sarah, Garcia, John, Care, Melanie, Sturm, Amy C, Novelli, Valeria, Ackerman, Michael J, Ware, James S, Hershberger, Ray E, Wilde, Arthur A.M, Gollob, Michael H
Published in Circulation (New York, N.Y.) (18.09.2018)
Published in Circulation (New York, N.Y.) (18.09.2018)
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Journal Article
MATRIX METALLOPROTEINASE-7 AND EPIDERMAL GROWTH FACTOR RECEPTOR MEDIATE HYPOXIA-INDUCED EXTRACELLULAR SIGNAL-REGULATED KINASE 1/2 MITOGEN-ACTIVATED PROTEIN KINASE ACTIVATION AND SUBSEQUENT PROLIFERATION IN BLADDER SMOOTH MUSCLE CELLS
SABHA, NESRIN, AITKEN, KAREN, LORENZO, ARMANDO J, SZYBOWSKA, MARTA, JAIRATH, ASHISH, BÄGLI, DARIUS J
Published in In vitro cellular & developmental biology. Animal (01.05.2006)
Published in In vitro cellular & developmental biology. Animal (01.05.2006)
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Journal Article
Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway
Szybowska, Marta, Mete, Ozgur, Weber, Evan, Silver, Josh, Kim, Raymond H.
Published in Endocrine pathology (01.09.2019)
Published in Endocrine pathology (01.09.2019)
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Journal Article
Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services
Suddaby, Jessica S., Sohaei, Dorsa, Bell, Heather, Tavares, Sandra, Lee, Grace Jieun, Szybowska, Marta, So, Joyce
Published in European journal of medical genetics (01.04.2020)
Published in European journal of medical genetics (01.04.2020)
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Journal Article
Germline whole genome sequencing in adults with multiple primary tumors
Wang, Yiming, Ding, Qiliang, Prokopec, Stephenie, Farncombe, Kirsten M., Bruce, Jeffrey, Casalino, Selina, McCuaig, Jeanna, Szybowska, Marta, van Engelen, Kalene, Lerner-Ellis, Jordan, Pugh, Trevor J., Kim, Raymond H.
Published in Familial cancer (01.10.2023)
Published in Familial cancer (01.10.2023)
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Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
Shickh, Salma, Gutierrez Salazar, Mariana, Zakoor, Kathleen-Rose, Lázaro, Conxi, Gu, Jessica, Goltz, Jamie, Kleinman, Dakota, Noor, Abdul, Khalouei, Sam, Mighton, Chloe, Reble, Emma, Kodida, Rita, Bombard, Yvonne, DiTroia, Stephanie, Baxter, Samantha, Watkins, Nicholas, Care, Melanie, Adler, Arnon, Horsburgh, Sheri, Morar, Oana, Murphy, Jillian, Nevay, Dayna-Lynn, Szybowska, Marta, Aronson, Melyssa, Panchal, Seema, Godoy, Ruth, Holter, Spring, Randall Armel, Susan, Semotiuk, Kara, Elser, Christine, Kim, Raymond H, Chitayat, David, So, Joyce, Faghfoury, Hanna, Silver, Josh, Morel, Chantal F, Lerner-Ellis, Jordan
Published in Journal of medical genetics (01.04.2021)
Published in Journal of medical genetics (01.04.2021)
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Journal Article
Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
Cundy, Tim, Dray, Michael, Delahunt, John, Hald, Jannie Dahl, Langdahl, Bente, Li, Chumei, Szybowska, Marta, Mohammed, Shehla, Duncan, Emma L, McInerney‐Leo, Aideen M, Wheeler, Patricia G, Roschger, Paul, Klaushofer, Klaus, Rai, Jyoti, Weis, MaryAnn, Eyre, David, Schwarze, Ulrike, Byers, Peter H
Published in Journal of bone and mineral research (01.07.2018)
Published in Journal of bone and mineral research (01.07.2018)
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Journal Article
Comprehensive characterization of a Canadian cohort of von Hippel‐Lindau disease patients
Salama, Yasser, Albanyan, Saleh, Szybowska, Marta, Bullivant, Garrett, Gallinger, Bailey, Giles, Rachel H., Asa, Sylvia, Badduke, Chansonette, Chiorean, Andreea, Druker, Harriet, Ezzat, Shereen, Hannah‐Shmouni, Fady, Hernandez, Karen G., Inglese, Cara, Jani, Payal, Kaur, Yuvreet, Krema, Hatem, Krimus, Lior, Laperriere, Normand, Lichner, Zsuzanna, Mete, Ozgur, Sit, Marisa, Zadeh, Gelareh, Jewett, Michael A.S., Malkin, David, Stockley, Tracy, Wasserman, Jonathan D., Xu, Wei, Schachter, Nathan F., Kim, Raymond H.
Published in Clinical genetics (01.11.2019)
Published in Clinical genetics (01.11.2019)
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Journal Article
Cover Image, Volume 176A, Number 4, April 2018
Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H., Ray, Joseph W., Everman, David B., Gambello, Michael J., Chung, Wendy K.
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
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Journal Article
Mechanotransduction of Extracellular Signal-Regulated Kinases 1 and 2 Mitogen-Activated Protein Kinase Activity in Smooth Muscle Is Dependent on the Extracellular Matrix and Regulated by Matrix Metalloproteinases
Aitken, Karen J., Block, Gregory, Lorenzo, Armando, Herz, Daniel, Sabha, Nesrin, Dessouki, Omar, Fung, France, Szybowska, Marta, Craig, Laura, Bägli, Darius J.
Published in The American journal of pathology (01.08.2006)
Published in The American journal of pathology (01.08.2006)
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