Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome von Neighbors, Addison, Moss, Tonya, Holloway, Lynda, Yu, Seok‐Ho, Annese, Fran, Skinner, Steve, Saneto, Russell, Steet, Richard

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De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity von Cristofoli, Francesca, Moss, Tonya, Moore, Hannah W., Devriendt, Koen, Flanagan-Steet, Heather, May, Melanie, Jones, Julie, Roelens, Filip, Fons, Carmen, Fernandez, Anna, Martorell, Loreto, Selicorni, Angelo, Maitz, Silvia, Vitiello, Giuseppina, Van der Hoeven, Gerd, Skinner, Steven A., Bollen, Mathieu, Vermeesch, Joris R., Steet, Richard, Van Esch, Hilde

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Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism von Colonna, Maxwell B, Moss, Tonya, Mokashi, Sneha, Srikanth, Sujata, Jones, Julie R, Foley, Jackson R, Skinner, Cindy, Lichty, Angie, Kocur, Anthony, Wood, Tim, Stewart, Tracy Murray, Casero Jr, Robert A, Flanagan-Steet, Heather, Edison, Arthur S, Lyons, Michael J, Steet, Richard

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De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity von Cristofoli, Francesca, Moss, Tonya, Moore, Hannah W, Devriendt, Koen, Flanagan-Steet, Heather, May, Melanie, Jones, Julie, Roelens, Filip, Fons, Carmen, Fernandez, Anna, Martorell, Loreto, Selicorni, Angelo, Maitz, Silvia, Vitiello, Giuseppina, Van der Hoeven, Gerd, Skinner, Steven A, Bollen, Mathieu, Vermeesch, Joris R, Steet, Richard, Van Esch, Hilde

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Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant von Moss, Tonya, May, Melanie, Flanagan-Steet, Heather, Caylor, Raymond, Jiang, Yong-Hui, McDonald, Marie, Friez, Michael, McConkie-Rosell, Allyn, Steet, Richard

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Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism von Franek, Karl J., Butler, Julia, Johnson, John, Simensen, Richard, Friez, Michael J., Bartel, Frank, Moss, Tonya, DuPont, Barbara, Berry, Katherine, Bauman, Margaret, Skinner, Cindy, Stevenson, Roger E., Schwartz, Charles E.

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Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism von Franek, Karl J., Butler, Julia, Johnson, John, Simensen, Richard, Friez, Michael J., Bartel, Frank, Moss, Tonya, DuPont, Barbara, Berry, Katherine, Bauman, Margaret, Skinner, Cindy, Stevenson, Roger E., Schwartz, Charles E.

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Remote 6-minute-Walk Testing in Patients with Pulmonary Hypertension: Further Validation Needed? von Helgeson, Scott A, Burger, Charles D, Moss, John E, Zeiger, Tonya K, Taylor, Bryan J

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Parent Pain and Catastrophizing Are Associated With Pain, Somatic Symptoms, and Pain-Related Disability Among Early Adolescents von Wilson, Anna C., Moss, Ashley, Palermo, Tonya M., Fales, Jessica L.

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Exploratory Analysis of Concordance Between Clinician-Collected and Self-Sampled Human Papillomavirus Tests in a Small Cohort of Average- and High-Risk Patients von Wong, Ashley, Morgis, Rebecca, Entenman, Juliette, Ramirez, Sarah I, Hays, Amy L, Wright, Tonya S, Scartozzi, Christina M, Ruffin, Mack T, Moss, Jennifer L

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Psychosocial and Financial Burden of Therapy in USA Patients with Pulmonary Arterial Hypertension von Helgeson, Scott A., Menon, Divya, Helmi, Haytham, Vadlamudi, Charitha, Moss, John E., Zeiger, Tonya K., Burger, Charles D.

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Comparing Diagnosis and Treatment of Pulmonary Hypertension Patients at a Pulmonary Hypertension Center versus Community Centers von Saunders, Hollie, Helgeson, Scott A, Abdelrahim, Ahmed, Rottman-Pietrzak, Kathleen, Reams, Victoria, Zeiger, Tonya K, Moss, John E, Burger, Charles D

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Facemasks and Walk Distance in Pulmonary Arterial Hypertension Patients von Helgeson, Scott A., Burger, Charles D., Moss, John E., Zeiger, Tonya K., Taylor, Bryan J.

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Integrating a simulated electronic medical record system and barcode medication administration into a pre-licensure nursing program von Ledlow, Jennifer H., Judson, Tonya, Watts, Penni, Vance, David E., Moss, Jacqueline

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Twelve-Year Survival in a Patient With Systemic Sclerosis–Associated Pulmonary Arterial Hypertension on Nifedipine Monotherapy von Helgeson, Scott A., Enderby, Cher Y., Moss, John E., Gass, Jennifer M., Zeiger, Tonya K., Burger, Charles D.

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Polymorphisms in the myosin light chain kinase gene that confer risk of severe sepsis are associated with a lower risk of asthma von Gao, Li, MD, PhD, Grant, Audrey V., MS, Rafaels, Nicholas, MS, Stockton-Porter, Maria, MA, Watkins, Tonya, BS, Gao, Peisong, MD, PhD, Chi, Peter, MS, Muñoz, Melba, MD, Watson, Harold, MD, Dunston, Georgia, PhD, Togias, Alkis, MD, Hansel, Nadia, MD, Sevransky, Jonathan, MD, Maloney, James P., MD, Moss, Marc, MD, Shanholtz, Carl, MD, Brower, Roy, MD, Garcia, Joe G.N., MD, Grigoryev, Dmitry N., PhD, Cheadle, Christopher, PhD, Beaty, Terri H., PhD, Mathias, Rasika A., ScD, Barnes, Kathleen C., PhD

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Mechanisms of asthma and allergic inflammation: Polymorphisms in the myosin light chain kinase gene that confer risk of severe sepsis are associated with a lower risk of asthma von Gao, Li, Grant, Audrey V, Rafaels, Nicholas, Stockton-Porter, Maria, Watkins, Tonya, Gao, Peisong, Chi, Peter, Munoz, Melba, Watson, Harold, Dunston, Georgia, Togias, Alkis, Hansel, Nadia, Sevransky, Jonathan, Maloney, James P, Moss, Marc, Shanholtz, Carl, Brower, Roy, Garcia, Joe G N, Grigoryev, Dmitry N, Cheadle, Christopher, Beaty, Terri H, Mathias, Rasika A, Barnes, Kathleen C

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Twelve-Year Survival in a Patient With Systemic Sclerosis-Associated Pulmonary Arterial Hypertension on Nifedipine Monotherapy von Helgeson, Scott A, Enderby, Cher Y, Moss, John E, Gass, Jennifer M, Zeiger, Tonya K, Burger, Charles D

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Interactions of BCNU, low pH, glucose and hyperthermia in cultured RIF cells von Neilan, Barbara A., Jenkins, Tonya L., Henle, Kurt J., Moss, Alfred J., Nagle, William A.

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