Opinions of adults affected with later‐onset lysosomal storage diseases regarding newborn screening: A qualitative study von Lisi, Emily C., Ali, Nadia

Volltext

Patients' perspectives on newborn screening for later-onset lysosomal storage diseases von Lisi, Emily C., Gillespie, Scott, Laney, Dawn, Ali, Nadia

Volltext

Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers von Lisi, Emily C., McCandless, Shawn E.

Volltext

Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature von LISI, EMILY C, COHN, RONALD D

Volltext

Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting von Anderson, Jennifer L., Kruisselbrink, Teresa M., Lisi, Emily C., Hughes, Therese M., Steyermark, Joan M., Winkler, Erin M., Berg, Corinne M., Vierkant, Robert A., Gupta, Ruchi, Ali, Ahmad H., Faubion, Stephanie S., Aoudia, Stacy L., McAllister, Tammy M., Farrugia, Gianrico, Stewart, A. Keith, Lazaridis, Konstantinos N.

Volltext

Genomics Integration Into Nephrology Practice von Pinto e Vairo, Filippo, Prochnow, Carri, Kemppainen, Jennifer L., Lisi, Emily C., Steyermark, Joan M., Kruisselbrink, Teresa M., Pichurin, Pavel N., Dhamija, Rhadika, Hager, Megan M., Albadri, Sam, Cornell, Lynn D., Lazaridis, Konstantinos N., Klee, Eric W., Senum, Sarah R., El Ters, Mireille, Amer, Hatem, Baudhuin, Linnea M., Moyer, Ann M., Keddis, Mira T., Zand, Ladan, Sas, David J., Erickson, Stephen B., Fervenza, Fernando C., Lieske, John C., Harris, Peter C., Hogan, Marie C.

Volltext

3q29 interstitial microduplication: A new syndrome in a three-generation family von Lisi, Emily C., Hamosh, Ada, Doheny, Kimberly F., Squibb, Elizabeth, Jackson, Barbara, Galczynski, Rebecca, Thomas, George H., Batista, Denise A.S.

Volltext

Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers von Stenger, Elizabeth O., Kazi, Zoheb, Lisi, Emily, Gambello, Michael J., Kishnani, Priya

Volltext

Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: A qualitative study von Lisi, Emily C., Ali, Nadia

Volltext

3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition von Li, Feng, Lisi, Emily C, Wohler, Elizabeth S, Hamosh, Ada, Batista, Denise A.S

Volltext

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome von Hoover-Fong, Julie, MD, PhD, Savage, William J., MD, Lisi, Emily, MS, Winkelstein, Jerry, MD, Thomas, George H., PhD, Hoefsloot, Lies H., PhD, Loeb, David M., MD, PhD

Volltext

Impact of newborn screening on families in the case of Pompe disease von Pruniski, Brianna, Lisi, Emily, Ali, Nadia

Volltext

Impact of social media use in Fabry and Gaucher diseases von Hodgkins, Amanda, Lisi, Emily, Ali, Nadia

Volltext

Genetic counseling dilemma in neuronal ceroid lipofuscinosis associated with variants of unknown significance in whole exome sequencing: A case report von Lisi, Emily C., Foley, Allison, Shankar, Suma

Volltext

The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene von Macklin, Sarah, Laney, Dawn, Lisi, Emily, Atherton, Andrea, Smith, Elizabeth

Volltext

Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease von Davids, Laura, Sun, Yuxian, Moore, Reneé H., Lisi, Emily, Wittenauer, Angela, Wilcox, William R., Ali, Nadia

Volltext

Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection von Miao, Jing, Pinto e Vairo, Filippo, Hogan, Marie C., Erickson, Stephen B., El Ters, Mireille, Bentall, Andrew J., Kukla, Aleksandra, Greene, Eddie L., Hernandez, Loren Herrera, Sethi, Sanjeev, Lazaridis, Konstantinos N., Pichurin, Pavel N., Lisi, Emily, Prochnow, Carri A., Zand, Ladan, Fervenza, Fernando C.

Volltext

Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion von Saadeh, Reem, MD, Lisi, Emily C., MS, Batista, Denise A.S., PhD, McIntosh, Iain, PhD, Hoover-Fong, Julie E., MD

Volltext

Do the benefits outweigh the harms? Views of patients with later onset LSD on newborn screening von Lisi, Emily C., Long, Val, Laney, Dawn

Volltext

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria von Akula, Shyam K, Chen, Allen Y, Neil, Jennifer E, Shao, Diane D, Mo, Alisa, Hylton, Norma K, DiTroia, Stephanie, Ganesh, Vijay S, Smith, Richard S, O’Kane, Katherine, Yeh, Rebecca C, Marciano, Jack H, Kirkham, Samantha, Kenny, Connor J, Song, Janet H. T, Al Saffar, Muna, Millan, Francisca, Harris, David J, Murphy, Andrea V, Klemp, Kara C, Braddock, Stephen R, Brand, Harrison, Wong, Isaac, Talkowski, Michael E, O’Donnell-Luria, Anne, Lai, Abbe, Hill, Robert Sean, Mochida, Ganeshwaran H, Doan, Ryan N, Barkovich, A. James, Yang, Edward, Amrom, Dina, Andermann, Eva, Poduri, Annapurna, Walsh, Christopher A

Volltext