Search Results - "Dosa, Nienke"

It Takes a Village: Building Community With Assistive Technology by Locastro, Mary M., Robinson, Jason, Robinson, Erin, Dosa, Nienke P.

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CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient by Tellerday, Jack, Black, Jennifer, Schuessler, Donald C., Dosa, Nienke P., Alcaraz, Wendy, Lebel, Robert Roger

“…The CASK gene and its product protein kinase have been associated with microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome and various other…”
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Weight Status of Children Participating in the National Spina Bifida Patient Registry by Polfuss, Michele, Liu, Tiebin, Smith, Kathryn, Murphy, Pamela S, Ward, Elisabeth, Thibadeau, Judy, Dosa, Nienke P, Wang, Yinding, Sawin, Kathleen J

“…Describe the distribution of weight status categories and determine factors associated with overweight and obesity (OW/OB) in children and adolescents with…”
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Social Participation in a Nationally Representative Sample of Older Youth and Young Adults With Autism by LIPTAK, Gregory S, KENNEDY, Jenny A, DOSA, Nienke P

“…To describe social participation and identify factors that affect it in a nationally representative sample of adolescents and young adults with autism…”
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P442: An atypical presentation of 17q12 recurrent deletion syndrome resulting in the misdiagnosis of Meckel-Gruber syndrome: A case report by Renna, Kathleen, Black, Jennifer, Dosa, Nienke, Lebel, Robert

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Spina Bifida Grown Up by LIPTAK, Gregory S, GARVER, Kimberlee, DOSA, Nienke P

“…The majority of people with spina bifida in the United States are now older than 18 years of age. Health care delivery for adults with this condition should…”
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Addressing social determinants of health through customization: Quality improvement, telemedicine, and care coordination to serve immigrant families by Castillo, Heidi, Locastro, Mary M., Fremion, Ellen, Malhotra, Anjali, Morales, Rosanna, Timmons, Kelly, Jarosz, Susan, Dosa, Nienke P., Castillo, Jonathan

“…PURPOSE: The purpose of this project was to establish a pathway for electronic medical record (EMR) customization, utilizing quality improvement methodology,…”
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Youth with Spina Bifida and Transitions: Health and Social Participation in a Nationally Represented Sample by Liptak, Gregory S., MD, MPH, Kennedy, Jenny A., BS, Dosa, Nienke P., MD, MPH

“…Objective To describe outcomes and identify factors that affect social participation in youth and young adults with spina bifida. Study design Prospective data…”
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P241: Expanding the phenotype of DREAM-PL: A case report by Mahoney, Daniel, Black, Jennifer, Dosa, Nienke, Sakonju, Ai, Lebel, Robert

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P741: Brothers concordant for adverse phenotype and Primrose syndrome apparently by parental gonadal mosaicism for ZBTB20 variant by Hellwig, Tatiana, Black, Jennifer, Dosa, Nienke, Wali, Prateek, Hansen, David, Anilkumar, Arayamparambil, Lebel, Robert

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Life course health and healthcare utilization among adults with spina bifida by Liptak, Gregory S, Robinson, Laura M, Davidson, Philip W, Dziorny, Adam, Lavalley, Rebecca, Flaherty, Mary Grace, Dosa, Nienke P

“…Aim To evaluate the prevalence of organ system disorders and describe healthcare utilization among adults with spina bifida at a regional clinic. Method This…”
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Research Needs for Effective Transition in Lifelong Care of Congenital Genitourinary Conditions: A Workshop Sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases by Hsieh, Michael H, Wood, Hadley M, Dicianno, Brad E, Dosa, Nienke P, Gomez-Lobo, Veronica, Mattoo, Tej K, Misseri, Rosalia, Norton, Jenna M, Sawin, Kathleen J, Scal, Peter, Wright, James E, Star, Robert A, Bavendam, Tamara

“…Over the last 5 decades, health-care advances have yielded quantum improvements in the life expectancy of individuals with congenital genitourinary conditions…”
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Obesity across the lifespan among persons with spina bifida by Dosa, Nienke P., Foley, John T., Eckrich, Michael, Woodall-Ruff, Denise, Liptak, Gregory S.

“…Purpose. Identify risk factors for obesity across the lifespan for individuals with spina bifida. Methods. Cross sectional chart review study of 203 patients…”
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P340: Kabuki syndrome and metachromatic leukodystrophy, dual diagnosis in a female patient: A case report by Almonte, Margarita Vazquez, Black, Jennifer, Byler, Melissa, Lebel, Robert, Dosa, Nienke

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Population Pharmacokinetics of Oral Baclofen in Pediatric Patients with Cerebral Palsy by He, Yang, PhD, Brunstrom-Hernandez, Janice E., MD, Thio, Liu Lin, MD, PhD, Lackey, Shellie, RN, Gaebler-Spira, Deborah, MD, Kuroda, Maxine M., PhD, MPH, Stashinko, Elaine, PhD, RN, Hoon, Alexander H., MD, MPH, Vargus-Adams, Jilda, MD, Stevenson, Richard D., MD, Lowenhaupt, Stephanie, RN, CCRC, McLaughlin, John F., MD, Christensen, Ana, MPH, Dosa, Nienke P., MD, MPH, Butler, Maureen, BSN, Schwabe, Aloysia, MD, Lopez, Christina, CCRP, Roge, Desiree, MD, Kennedy, Diane, RN, PhD, CCRC, Tilton, Ann, MD, Krach, Linda E., MD, Lewandowski, Andrew, PhD, Dai, Hongying, PhD, Gaedigk, Andrea, PhD, Leeder, J. Steven, PharmD, PhD, Jusko, William J., PhD

“…Objective To characterize the population pharmacokinetics (PK) of oral baclofen and assess impact of patient-specific covariates in children with cerebral…”
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Spina Bifida Global Learning Collaborative: Educating the next generation of clinicians, researchers, and advocates by Dosa, Nienke P., Ahmed, Yakob S., Alriksson-Schmidt, Ann, Castillo, Heidi, Contepomi, Silvana, Locastro, Mary M., Koning, Jan, Koutsouras, George, Kutwa, Elly, Mahorta, Anjali, MacFarland, Shade, Öhrvall, Ann-Marie, O’Neill, Patricia, Overvelde, Anneloes, Peny-Dahlstrand, Marie, Shaw, Andrea, Stockman, Jessica, Tovar-Spinoza, Zulma, Castillo, Jonathan

“…PURPOSE: This project aimed to launch an international learning community to guide the development of a spina bifida (SB) curriculum for global health…”
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Genetic epidemiology of neural tube defects by Lupo, Philip J, Agopian, A J, Castillo, Heidi, Castillo, Jonathan, Clayton, Gerald H, Dosa, Nienke P, Hopson, Betsy, Joseph, David B, Rocque, Brandon G, Walker, William O, Wiener, John S, Mitchell, Laura E

“…It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information…”
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Myelomeningocele by Liptak, Gregory S, Dosa, Nienke P

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Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18 by Lammert, Dawn Brianna, Miedema, David, Ochotorena, Josiree, Dosa, Nienke, Petropoulou, Kalliopi, Lebel, Roger Robert, Sakonju, Ai

“…Myelin basic protein (MBP) contributes to peripheral and central nervous system myelin. Developmental myelinopathies exist on a clinical spectrum, but MBP is…”
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Excess Risk of Severe Acute Illness in Children With Chronic Health Conditions by Dosa, Nienke P, Boeing, Nancy M, MS, NP, Kanter, Robert K

“…We estimated the relative risk (RR) of an unscheduled pediatric intensive care unit (ICU) admission as a marker for severe acute illness in children with…”
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