Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome

由 Ueda, Keisuke, Shinawi, Marwan, Pearson, Toni S.
發表在 Neurol Genet (2021)

Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia

由 Shaibani, Aziz, Khan, Shaida, Shinawi, Marwan
發表在 Neurol Genet (2021)

Transient Massive Trimethylaminuria Associated with Food Protein–Induced Enterocolitis Syndrome

由 Miller, Natalie B., Beigelman, Avraham, Utterson, Elizabeth, Shinawi, Marwan
出版 2013

Adult-onset dystonia with marfanoid features

由 Norris, Scott A., Pogarcic, Anja, Hicks, Matt, Perlmutter, Joel S., Shinawi, Marwan
發表在 Neurol Clin Pract (2017)

DeSanto-Shinawi Syndrome: First Case in South America

由 Vanegas, Sara, Ramirez-Montaño, Diana, Candelo, Estephania, Shinawi, Marwan, Pachajoa, Harry
發表在 Mol Syndromol (2018)

Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy

由 Bamaga, Ahmed K., Maamari, Robi N., Culican, Susan M., Shinawi, Marwan, Golumbek, Paul T.
發表在 Neurology (2018)

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype

由 Shepherdson, James L., Zheng, Hongjun, Amarillo, Ina E., McAlinden, Audrey, Shinawi, Marwan
發表在 Bone (2020)

Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

由 Shaibani, Aziz, Shchelochkov, Oleg A., Zhang, Shulin, Katsonis, Panagiotis, Lichtarge, Olivier, Wong, Lee-Jun, Shinawi, Marwan
出版 2009

Digynic triploidy: utility and challenges of noninvasive prenatal testing

由 Fleischer, Julie, Shenoy, Archana, Goetzinger, Katherine, Cottrell, Catherine E, Baldridge, Dustin, White, Frances V, Shinawi, Marwan
發表在 Clin Case Rep (2015)

Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities

由 Brereton, Emily, Fassi, Emily, Araujo, Gabriel C., Dodd, Jonathan, Telegrafi, Aida, Pathak, Sheel J., Shinawi, Marwan
發表在 Mol Genet Genomic Med (2018)

Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome

由 Siller, Alejandro F., Shimony, Alex, Shinawi, Marwan, Amarillo, Ina, Dehner, Louis P., Semenkovich, Katherine, Arbeláez, Ana María
發表在 J Clin Res Pediatr Endocrinol (2019)

SAT-LB085 First Report of Burosumab (Anti-FGF23 Monoclonal Antibody) for Rickets Complicating HRAS-Associated Cutaneous Skeletal Hypophosphatemia Syndrome

由 Smith, Pamela, Bayliss, Susan, Shinawi, Marwan, Gottesman, Gary, McAlister, William, Sugarman, Jeffrey, Whyte, Michael, Arbelaez, Ana Maria
發表在 J Endocr Soc (2019)

Duplication of OCRL and Adjacent Genes Associated with Autism but not Lowe Syndrome

由 Schroer, Richard J., Beaudet, Arthur L., Shinawi, Marwan, Sahoo, Trilochan, Patel, Ankita, Sun, Qin, Skinner, Cindy, Stevenson, Roger E.
出版 2012

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature

由 Hsu, Tina, Coughlin, Carrie C., Monaghan, Kristin G., Fiala, Elise, McKinstry, Robert C., Paciorkowski, Alex R., Shinawi, Marwan
發表在 Child Neurol Open (2017)

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca(2+) Pump Impairs Cellular Ca(2+) Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

由 Calì, Tito, Lopreiato, Raffaele, Shimony, Joshua, Vineyard, Marisa, Frizzarin, Martina, Zanni, Ginevra, Zanotti, Giuseppe, Brini, Marisa, Shinawi, Marwan, Carafoli, Ernesto
發表在 J Biol Chem (2015)

PHENOTYPE AND RESPONSE TO GROWTH HORMONE THERAPY IN SIBLINGS WITH B4GALT7 DEFICIENCY

由 Sandler-Wilson, Carla, Wambach, Jennifer A., Marshall, Bess A., Wegner, Daniel J., McAlister, William, Cole, F. Sessions, Shinawi, Marwan
發表在 Bone (2019)

A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema

由 Schweitzer, George G., Gan, Connie, Bucelli, Robert C., Wegner, Daniel, Schmidt, Robert E., Shinawi, Marwan, Finck, Brian N., Brookheart, Rita T.
發表在 Mol Genet Genomic Med (2019)

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

由 Mah-Som, Annelise Y., Skrypnyk, Cristina, Guerin, Andrea, Seroor Jadah, Raafat Hammad, Vardhan, Vinayak Nivrutti, McKinstry, Robert C., Shinawi, Marwan S.
發表在 Neurol Genet (2021)

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q

由 Shinawi, Marwan, Erez, Ayelet, Shardy, Deborah L., Lee, Brendan, Naeem, Rizwan, Weissenberger, George, Chinault, A. Craig, Cheung, Sau Wai, Plon, Sharon E.
出版 2008

Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic

由 Groves, Andrew P., Gettinger, Katie, Druley, Todd E., Kozel, Beth, Shinawi, Marwan, Mohrmann, Caroline, Henry, Jennifer, Jacobi, Celina, Trinkaus, Kathryn, Hayashi, Robert J.
發表在 J Pediatr Hematol Oncol (2019)