Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene
Schwartz, Charles E., May, Melanie M., Carpenter, Nancy J., Rogers, R. Curtis, Martin, Judith, Bialer, Martin G., Ward, Jewell, Sanabria, Javier, Marsa, Silvana, Lewis, James A., Echeverri, Roberto, Lubs, Herbert A., Voeller, Kytja, Simensen, Richard J., Stevenson, Roger E.
Published in American journal of human genetics (01.07.2005)
Published in American journal of human genetics (01.07.2005)
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Journal Article
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
Cathey, S S, Leroy, J G, Wood, T, Eaves, K, Simensen, R J, Kudo, M, Stevenson, R E, Friez, M J
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Journal Article
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer-Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E
Published in Journal of medical genetics (01.07.2007)
Published in Journal of medical genetics (01.07.2007)
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Journal Article
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E
Published in BMJ open (29.04.2016)
Published in BMJ open (29.04.2016)
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Journal Article
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
Abidi, F E, Holloway, L, Moore, C A, Weaver, D D, Simensen, R J, Stevenson, R E, Rogers, R C, Schwartz, C E
Published in Journal of medical genetics (01.12.2008)
Published in Journal of medical genetics (01.12.2008)
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Journal Article
Natural history of Christianson syndrome
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.
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
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Journal Article
Autism and macrocephaly
Stevenson, Roger E, Schroer, Richard J, Skinner, Cindy, Fender, Don, Simensen, Richard J
Published in The Lancet (British edition) (14.06.1997)
Published in The Lancet (British edition) (14.06.1997)
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Journal Article
Short-term memory deficits in carrier females with KDM5C mutations
Simensen, R J, Rogers, R C, Collins, J S, Abidi, F, Schwartz, C E, Stevenson, R E
Published in Genetic counseling (2012)
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Published in Genetic counseling (2012)
Journal Article
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome
CASON, A. Lauren, IKEGUCHI, Yoshihiko, SCHWARTZ, Charles E, SKINNER, Cindy, WOOD, Tim C, HOLDEN, Kenton R, LUBS, Herbert A, MARTINEZ, Francisco, SIMENSEN, Richard J, STEVENSON, Roger E, PEGG, Anthony E
Published in European journal of human genetics : EJHG (01.12.2003)
Published in European journal of human genetics : EJHG (01.12.2003)
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Journal Article
Autistic Disorder: A 20 Year Chronicle
Skinner, Cindy, Pauly, Rini, Skinner, Steven A., Schroer, Richard J., Simensen, Richard J., Taylor, Harold A., Friez, Michael J., DuPont, Barbara R., Stevenson, Roger E.
Published in Journal of autism and developmental disorders (01.02.2021)
Published in Journal of autism and developmental disorders (01.02.2021)
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Journal Article
Renpenning syndrome comes into focus
Stevenson, Roger E., Bennett, C.W., Abidi, F., Kleefstra, T., Porteous, M., Simensen, R.J., Lubs, H.A., Hamel, B.C.J., Schwartz, C.E.
Published in American journal of medical genetics. Part A (01.05.2005)
Published in American journal of medical genetics. Part A (01.05.2005)
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Journal Article
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism
Bhat, SS, Ladd, S, Grass, F, Spence, JE, Brasington, CK, Simensen, RJ, Schwartz, CE, DuPont, BR, Stevenson, RE, Srivastava, AK
Published in Clinical genetics (01.01.2008)
Published in Clinical genetics (01.01.2008)
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Journal Article
The Structure and Impurities of Hard DC Anodic Layers on AA6060 Aluminium Alloy
Walmsley, J. C., Simensen, C. J., Bjørgum, A., Lapique, F., Redford, K.
Published in The Journal of adhesion (19.06.2008)
Published in The Journal of adhesion (19.06.2008)
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Journal Article
Wafer-level Au-Au bonding in the 350-450 °C temperature range
Tofteberg, Hannah R, Schjølberg-Henriksen, Kari, Fasting, Eivind J, Moen, Alexander S, Taklo, Maaike M V, Poppe, Erik U, Simensen, Christian J
Published in Journal of micromechanics and microengineering (01.08.2014)
Published in Journal of micromechanics and microengineering (01.08.2014)
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Journal Article
Conference Proceeding
Absence of MeCP2 mutations in patients from the South Carolina autism project
Lobo-Menendez, Fe, Sossey-Alaoui, Khalid, Bell, Jennifer M., Copeland-Yates, Susan A., Plank, Sara M., Sanford, Stewart O., Skinner, Cindy, Simensen, Richard J., Schroer, Richard J., Michaelis, Ron C.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (15.02.2003)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (15.02.2003)
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Journal Article
Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies
Bhat, S.S., Schmidt, K.R., Ladd, S., Kim, K.C., Schwartz, C.E., Simensen, R.J., DuPont, B.R., Stevenson, R.E., Srivastava, A.K.
Published in Cytogenetic and genome research (01.01.2006)
Published in Cytogenetic and genome research (01.01.2006)
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Journal Article
Cognitive function in Coffin-Lowry syndrome
Simensen, RJ, Abidi, F, Collins, JS, Schwartz, CE, Stevenson, RE
Published in Clinical genetics (01.04.2002)
Published in Clinical genetics (01.04.2002)
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Journal Article