Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
Miller, D T, Shen, Y, Weiss, L A, Korn, J, Anselm, I, Bridgemohan, C, Cox, G F, Dickinson, H, Gentile, J, Harris, D J, Hegde, V, Hundley, R, Khwaja, O, Kothare, S, Luedke, C, Nasir, R, Poduri, A, Prasad, K, Raffalli, P, Reinhard, A, Smith, S E, Sobeih, M M, Soul, J S, Stoler, J, Takeoka, M, Tan, W-H, Thakuria, J, Wolff, R, Yusupov, R, Gusella, J F, Daly, M J, Wu, B-L
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
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Journal Article
A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism
Yu, HE, Hawash, K, Picker, J, Stoler, J, Urion, D, Wu, B-L, Shen, Y
Published in Clinical genetics (01.03.2012)
Published in Clinical genetics (01.03.2012)
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Journal Article
NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings
Leeman, K T, Dobson, L, Towne, M, Dukhovny, D, Joshi, M, Stoler, J, Agrawal, P B
Published in Journal of perinatology (01.05.2014)
Published in Journal of perinatology (01.05.2014)
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Journal Article
Cytogenetic and Array-CGH Characterization of a Complex de novo Rearrangement Involving Duplication and Deletion of 9p and Clinical Findings in a 4-Month-Old Female
Hulick, P.J., Noonan, K.M., Kulkarni, S., Donovan, D.J., Listewnik, M., Ihm, C., Stoler, J.M., Weremowicz, S.
Published in Cytogenetic and genome research (01.01.2009)
Published in Cytogenetic and genome research (01.01.2009)
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Journal Article
The prenatal detection of significant alcohol exposure with maternal blood markers
Stoler, Joan M., Huntington, Kelly S., Peterson, Charles M., Peterson, Karen P., Daniel, Patricia, Aboagye, Kwabena K., Lieberman, Ellice, Ryan, Louise, Holmes, Lewis B.
Published in The Journal of pediatrics (01.09.1998)
Published in The Journal of pediatrics (01.09.1998)
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Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3)
Hodge, J.C., Lawson-Yuen, A., Stoler, J.M., Ligon, A.H.
Published in Cytogenetic and genome research (01.12.2007)
Published in Cytogenetic and genome research (01.12.2007)
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Journal Article
Knowledge of and Attitudes about Alzheimer Disease Genetics: Report of a Pilot Survey and Two Focus Groups
Moscarillo, T.J., Holt, H., Perman, M., Goldberg, S., Cortellini, L., Stoler, J.M., DeJong, W., Miles, B.J., Albert, M.S., Go, R.C.P., Blacker, D.
Published in Community genetics (01.03.2007)
Published in Community genetics (01.03.2007)
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Journal Article
Clinical genetic testing for patients with autism spectrum disorders
Shen, Yiping, Dies, Kira A, Holm, Ingrid A, Bridgemohan, Carolyn, Sobeih, Magdi M, Caronna, Elizabeth B, Miller, Karen J, Frazier, Jean A, Silverstein, Iris, Picker, Jonathan, Weissman, Laura, Raffalli, Peter, Jeste, Shafali, Demmer, Laurie A, Peters, Heather K, Brewster, Stephanie J, Kowalczyk, Sara J, Rosen-Sheidley, Beth, McGowan, Caroline, Duda, 3rd, Andrew W, Lincoln, Sharyn A, Lowe, Kathryn R, Schonwald, Alison, Robbins, Michael, Hisama, Fuki, Wolff, Robert, Becker, Ronald, Nasir, Ramzi, Urion, David K, Milunsky, Jeff M, Rappaport, Leonard, Gusella, James F, Walsh, Christopher A, Wu, Bai-Lin, Miller, David T
Published in Pediatrics (Evanston) (01.04.2010)
Published in Pediatrics (Evanston) (01.04.2010)
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M, Christiansen, Helena E, Hegde, Madhuri R, Bank, Ruud A, Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M, Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D, Steiner, Robert D, Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V Reid, Davis, Elaine C, Kim, Lammy S, Weis, Mary Ann, Eyre, David, Byers, Peter H
Published in Human molecular genetics (01.01.2013)
Published in Human molecular genetics (01.01.2013)
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Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature
Guo, Michael H., Stoler, Joan, Lui, Julian, Nilsson, Ola, Bianchi, Diana W., Hirschhorn, Joel N., Dauber, Andrew
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
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Malformations reported in chorionic villus sampling exposed children: a review and analytic synthesis of the literature
Stoler, J M, McGuirk, C K, Lieberman, E, Ryan, L, Holmes, L B
Published in Genetics in medicine (01.11.1999)
Published in Genetics in medicine (01.11.1999)
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Journal Article
The in vitro effect of exogenous digoxin on normal human spermatozoa progressive motility [letter]
Krivoy, N, Vadasz, A, Stoler, J, Jakobi, P, Makler, A
Published in British journal of clinical pharmacology (01.02.1992)
Published in British journal of clinical pharmacology (01.02.1992)
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Journal Article
A Functional Mutation in the Terminal Exon of Elastin in Severe, Early-Onset Chronic Obstructive Pulmonary Disease
Kelleher, Cassandra M, Silverman, Edwin K, Broekelmann, Thomas, Litonjua, Augusto A, Hernandez, Melvin, Sylvia, Jody S, Stoler, Joan, Reilly, John J, Chapman, Harold A, Speizer, Frank E, Weiss, Scott T, Mecham, Robert P, Raby, Benjamin A
Published in American journal of respiratory cell and molecular biology (01.10.2005)
Published in American journal of respiratory cell and molecular biology (01.10.2005)
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Journal Article
Genital abnormalities in females with Bardet-Biedl syndrome
Stoler, J M, Herrin, J T, Holmes, L B
Published in American journal of medical genetics (30.01.1995)
Published in American journal of medical genetics (30.01.1995)
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