Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report

по De Biase, Irene, Champaigne, Neena Lorenzana, Schroer, Richard, Pollard, Laura Malinda, Longo, Nicola, Wood, Tim
Опубликовано 2011

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

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

Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine

по Mudd, S. Harvey, Wagner, Conrad, Luka, Zigmund, Stabler, Sally P., Allen, Robert H., Schroer, Richard, Wood, Timothy, Wang, Jing, Wong, Lee-Jun
Опубликовано 2011

Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

по Bhalla, Kavita, Luo, Yue, Buchan, Tim, Beachem, Michael A., Guzauskas, Gregory F., Ladd, Sydney, Bratcher, Shelly J., Schroer, Richard J., Balsamo, Janne, DuPont, Barbara R., Lilien, Jack, Srivastava, Anand K.
Опубликовано 2008

Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome

по Schwartz, Charles E., Johnson, John P., Holycross, Bridget, Mandeville, Tracy M., Sears, Tena S., Graul, Elizabeth A., Carey, John C., Schroer, Richard J., Phelan, Mary C., Szollar, Judith, Flannery, David B., Stevenson, Roger E.
Опубликовано 1988

X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28

по Hahn, Kimberly A., Salomons, Gajja S., Tackels-Horne, Darci, Wood, Tim C., Taylor, Harold A., Schroer, Richard J., Lubs, Herbert A., Jakobs, Cornelis, Olson, Rick L., Holden, Kenton R., Stevenson, Roger E., Schwartz, Charles E.
Опубликовано 2002

Natural History of Christianson Syndrome

по Schroer, Richard J., Holden, Kenton R., Tarpey, Patrick S., Matheus, Maria Giselle, Griesemer, David A., Friez, Michael J., Fan, Jane Zheng, Simensen, Richard J., Strømme, Petter, Stevenson, Roger E., Stratton, Michael R., Schwartz, Charles E.
Опубликовано 2010

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

по Boccuto, Luigi, Lauri, Maria, Sarasua, Sara M, Skinner, Cindy D, Buccella, Daniela, Dwivedi, Alka, Orteschi, Daniela, Collins, Julianne S, Zollino, Marcella, Visconti, Paola, DuPont, Barb, Tiziano, Danilo, Schroer, Richard J, Neri, Giovanni, Stevenson, Roger E, Gurrieri, Fiorella, Schwartz, Charles E
Опубликовано 2013

Epimerase-Deficiency Galactosemia Is Not a Binary Condition

по Openo, Kimberly K., Schulz, Jenny M., Vargas, Claudia A., Orton, Corey S., Epstein, Michael P., Schnur, Rhonda E., Scaglia, Fernando, Berry, Gerard T., Gottesman, Gary S., Ficicioglu, Can, Slonim, Alfred E., Schroer, Richard J., Yu, Chunli, Rangel, Vanessa E., Keenan, Jennifer, Lamance, Kerri, Fridovich-Keil, Judith L.
Опубликовано 2006

Deletions in chromosome 6p22.3-p24.3, including <it>ATXN1</it>, are associated with developmental delay and autism spectrum disorders

по Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel
Опубликовано 2012-04-01

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

по Celestino-Soper, Patrícia BS, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata MJ, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, LaDonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau Wai, Beaudet, Arthur L, Stankiewicz, Pawel
Опубликовано 2012

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

по Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha JL, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E, Eichler, Evan E
Опубликовано 2008

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

по Celestino-Soper, Patrícia B. S., Violante, Sara, Crawford, Emily L., Luo, Rui, Lionel, Anath C., Delaby, Elsa, Cai, Guiqing, Sadikovic, Bekim, Lee, Kwanghyuk, Lo, Charlene, Gao, Kun, Person, Richard E., Moss, Timothy J., German, Jennifer R., Huang, Ni, Shinawi, Marwan, Treadwell-Deering, Diane, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget, Schroer, Richard J., Stevenson, Roger E., Buxbaum, Joseph D., Betancur, Catalina, Scherer, Stephen W., Sanders, Stephan J., Geschwind, Daniel H., Sutcliffe, James S., Hurles, Matthew E., Wanders, Ronald J. A., Shaw, Chad A., Leal, Suzanne M., Cook, Edwin H., Goin-Kochel, Robin P., Vaz, Frédéric M., Beaudet, Arthur L.
Опубликовано 2012