Rare structural variation of synapse and neurotransmission genes in autism
Gai, X, Xie, H M, Perin, J C, Takahashi, N, Murphy, K, Wenocur, A S, D'arcy, M, O'Hara, R J, Goldmuntz, E, Grice, D E, Shaikh, T H, Hakonarson, H, Buxbaum, J D, Elia, J, White, P S
Published in Molecular psychiatry (01.04.2012)
Published in Molecular psychiatry (01.04.2012)
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GATA4 sequence variants in patients with congenital heart disease
Tomita-Mitchell, A, Maslen, C L, Morris, C D, Garg, V, Goldmuntz, E
Published in Journal of medical genetics (01.12.2007)
Published in Journal of medical genetics (01.12.2007)
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Journal Article
SAT0486 Myeloablation followed by autologous stem cell rescue leads to normalisation of serum il-6 levels in patients with systemic sclerosis
Bellocchi, C., Sullivan, K., Goldmuntz, E., Ying, J., Keyes-Elstein, L., Varga, J., Hinchcliff, M.E., McSweeney, P., Furst, D.E., Nash, R., Crofford, L.J., Welch, B., Pinckney, A., Mayes, M.D., Assassi, S.
Published in Annals of the rheumatic diseases (01.06.2018)
Published in Annals of the rheumatic diseases (01.06.2018)
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Journal Article
Loss-of-Function Mutations in Growth Differentiation Factor-1 ( GDF1) Are Associated with Congenital Heart Defects in Humans
Karkera, J.D., Lee, J.S., Roessler, E., Banerjee-Basu, S., Ouspenskaia, M.V., Mez, J., Goldmuntz, E., Bowers, P., Towbin, J., Belmont, J.W., Baxevanis, A.D., Schier, A.F., Muenke, M.
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
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Journal Article
1207 Update on Progress of the Mesenchymal Stromal Cell Trial in Refractory Lupus
Kamen, D, Lim, SS, Ramsey-Goldman, R, Kalunian, K, Mackay, M, Khosroshahi, A, Sheikh, S, Shah, U, Goldmuntz, E, Welch, B, Ishimori, M, Arriens, C, Nietert, P, Sirline, L, Martin, R, Gilkeson, G
Published in Lupus science & medicine (14.12.2022)
Published in Lupus science & medicine (14.12.2022)
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Journal Article
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
Gong, Weilong, Gottlieb, Shoshanna, Collins, Joelle, Blescia, Adam, Dietz, Harry, Goldmuntz, Elizabeth, McDonald-McGinn, Donna M, Zackai, Elaine H, Emanuel, Beverly S, Driscoll, Deborah A, Budarf, Marcia L
Published in Journal of medical genetics (01.12.2001)
Published in Journal of medical genetics (01.12.2001)
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Journal Article
Serum Alkaline Phosphatase Reflects Post-Fontan Hemodynamics in Children
Chin, Alvin J., Stephens, P., Goldmuntz, E., Leonard, M. B.
Published in Pediatric cardiology (01.02.2009)
Published in Pediatric cardiology (01.02.2009)
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Journal Article
Chromosome 22q11 deletion in patients with truncus arteriosus
McElhinney, D B, Driscoll, D A, Emanuel, B S, Goldmuntz, E
Published in Pediatric cardiology (01.11.2003)
Published in Pediatric cardiology (01.11.2003)
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Journal Article
The Philadelphia story: the 22q11.2 deletion: report on 250 patients
McDonald-McGinn, D M, Kirschner, R, Goldmuntz, E, Sullivan, K, Eicher, P, Gerdes, M, Moss, E, Solot, C, Wang, P, Jacobs, I, Handler, S, Knightly, C, Heher, K, Wilson, M, Ming, J E, Grace, K, Driscoll, D, Pasquariello, P, Randall, P, Larossa, D, Emanuel, B S, Zackai, E H
Published in Genetic counseling (1999)
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Published in Genetic counseling (1999)
Journal Article
Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age
McElhinney, D B, McDonald-McGinn, D, Zackai, E H, Goldmuntz, E
Published in Pediatrics (Evanston) (01.12.2001)
Published in Pediatrics (Evanston) (01.12.2001)
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Journal Article
Myeloablative Autologous Stem-Cell Transplantation for Severe Scleroderma
Sullivan, Keith M, Goldmuntz, Ellen A, Keyes-Elstein, Lynette, McSweeney, Peter A, Pinckney, Ashley, Welch, Beverly, Mayes, Maureen D, Nash, Richard A, Crofford, Leslie J, Eggleston, Barry, Castina, Sharon, Griffith, Linda M, Goldstein, Julia S, Wallace, Dennis, Craciunescu, Oana, Khanna, Dinesh, Folz, Rodney J, Goldin, Jonathan, St. Clair, E. William, Seibold, James R, Phillips, Kristine, Mineishi, Shin, Simms, Robert W, Ballen, Karen, Wener, Mark H, Georges, George E, Heimfeld, Shelly, Hosing, Chitra, Forman, Stephen, Kafaja, Suzanne, Silver, Richard M, Griffing, Leroy, Storek, Jan, LeClercq, Sharon, Brasington, Richard, Csuka, Mary E, Bredeson, Christopher, Keever-Taylor, Carolyn, Domsic, Robyn T, Kahaleh, M. Bashar, Medsger, Thomas, Furst, Daniel E
Published in The New England journal of medicine (04.01.2018)
Published in The New England journal of medicine (04.01.2018)
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Journal Article
OP0167 SUCCESSFUL WITHDRAWAL OF MYCOPHENOLATE MOFETIL IN QUIESCENT SLE: RESULTS FROM A RANDOMIZED TRIAL
Chakravarty, E., Utset, T., Kamen, D. L., Contreras, G., Mccune, W. J., Kalunian, K. C., Aranow, C., Clowse, M., Goldmuntz, E., Springer, J., Keyes-Elstein, L., Barry, B., Pinckney, A., James, J.
Published in Annals of the rheumatic diseases (01.06.2020)
Published in Annals of the rheumatic diseases (01.06.2020)
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Journal Article
NKX2.5 mutations in patients with congenital heart disease
MCELHINNEY, Doff B, GEIGER, Elizabeth, BLINDER, Joshua, BENSON, D. Woodrow, GOLDMUNTZ, Elizabeth
Published in Journal of the American College of Cardiology (05.11.2003)
Published in Journal of the American College of Cardiology (05.11.2003)
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Journal Article
NKX2.5 mutations in patients with tetralogy of Fallot
GOLDMUNTZ, Elizabeth, GEIGER, Elizabeth, BENSON, D. Woodrow
Published in Circulation (New York, N.Y.) (20.11.2001)
Published in Circulation (New York, N.Y.) (20.11.2001)
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