Comprehensive evaluation of the child with intellectual disability or global developmental delays von Moeschler, John B, Shevell, Michael

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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome von Risheg, Hiba, Graham, John M, Clark, Robin D, Rogers, R Curtis, Opitz, John M, Moeschler, John B, Peiffer, Andreas P, May, Melanie, Joseph, Sumy M, Jones, Julie R, Stevenson, Roger E, Schwartz, Charles E, Friez, Michael J

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National Profile of Children with Down Syndrome: Disease Burden, Access to Care, and Family Impact von McGrath, Robert J., PhD, Stransky, Michelle L., MA, Cooley, W. Carl, MD, Moeschler, John B., MD, MS

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6q22.1 microdeletion and susceptibility to pediatric epilepsy von Szafranski, Przemyslaw, Von Allmen, Gretchen K, Graham, Brett H, Wilfong, Angus A, Kang, Sung-Hae L, Ferreira, Jose A, Upton, Sheila J, Moeschler, John B, Bi, Weimin, Rosenfeld, Jill A, Shaffer, Lisa G, Wai Cheung, Sau, Stankiewicz, Paweł, Lalani, Seema R

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Genetic Evaluation of Intellectual Disabilities von Moeschler, John B., MD, MS

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Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity von Brookes, Emily, Laurent, Benoit, Õunap, Katrin, Carroll, Renee, Moeschler, John B, Field, Michael, Schwartz, Charles E, Gecz, Jozef, Shi, Yang

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The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource von van Karnebeek, Clara D.M., Shevell, Michael, Zschocke, Johannes, Moeschler, John B., Stockler, Sylvia

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Neuroimaging findings in macrocephaly-capillary malformation: A longitudinal study of 17 patients von Conway, Robert L., Pressman, Barry D., Dobyns, William B., Danielpour, Moise, Lee, John, Sanchez-Lara, Pedro A., Butler, Merlin G., Zackai, Elaine, Campbell, Lindsey, Saitta, Sulagna C., Clericuzio, Carol L., Milunsky, Jeff M., Hoyme, H. Eugene, Shieh, Joseph, Moeschler, John B., Crandall, Barbara, Lauzon, Julie L., Viskochil, David H., Harding, Brian, Graham Jr, John M.

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Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability von Moeschler, John B

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Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays von Moeschler, John B, Shevell, Michael, and Committee on Genetics

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Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors von Herriges, John C., Brown, Sara, Longhurst, Maria, Ozmore, Jillian, Moeschler, John B., Janze, Aura, Meck, Jeanne, South, Sarah T., Andersen, Erica F.

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Deletion of chromosome 21 disturbs human brain morphogenesis von Yao, Guimei, Chen, Xiao-Ning, Flores-Sarnat, Laura, Barlow, Gillian M., Palka, Giandomenico, Moeschler, John B., McGillivray, Barbara, Morse, Richard P., Korenberg, Julie R.

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Neurodevelopmental disorders and genetic testing: Current approaches and future advances von Sherr, Elliott H., Michelson, David J., Shevell, Michael I., Moeschler, John B., Gropman, Andrea L., Ashwal, Stephen

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Invited comment on terminology von Moeschler, John B., Nisbeft, Jan

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Access to Genetic Counseling for Children With Autism, Down Syndrome, and Intellectual Disabilities von McGrath, Robert J, Laflamme, David J, Schwartz, Amy P, Stransky, Michelle, Moeschler, John B

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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster von Rosenfeld, Jill A., Fox, Joyce E., Descartes, Maria, Brewer, Fallon, Stroud, Tracy, Gorski, Jerome L., Upton, Sheila J., Moeschler, John B., Monteleone, Berrin, Neill, Nicholas J., Lamb, Allen N., Ballif, Blake C., Shaffer, Lisa G., Ravnan, J. Britt

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FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing von Clark, Robin Dawn, Graham, John M, Friez, Michael J, Hoo, Joe J, Jones, Kenneth Lyons, McKeown, Carole, Moeschler, John B, Raymond, F Lucy, Rogers, R Curtis, Schwartz, Charles E, Battaglia, Agatino, Lyons, Michael J, Stevenson, Roger E

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How best to use CGH arrays in the clinical setting von Saul, Robert A, Moeschler, John B

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Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene von Graham Jr, John M., Visootsak, Jeannie, Dykens, Elisabeth, Huddleston, Lillie, Clark, Robin D., Jones, Kenneth L., Moeschler, John B., Opitz, John M., Morford, Jackie, Simensen, Richard, Rogers, R. Curtis, Schwartz, Charles E., Friez, Michael J., Stevenson, Roger E.

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Additional EFNB1 mutations in craniofrontonasal syndrome von Wallis, Deeann, Lacbawan, Felicitas, Jain, Mahim, Der Kaloustian, Vazken M., Steiner, Carlos E., Moeschler, John B., Losken, H. Wolfgang, Kaitila, Ilkka I., Cantrell, Stephen, Proud, Virginia K., Carey, John C., Day, Donald W., Lev, Dorit, Teebi, Ahmad S., Robinson, Luther K., Hoyme, H. Eugene, Al-Torki, Nadia, Siegel-Bartelt, Jacqueline, Mulliken, John B., Robin, Nathaniel H., Saavedra, Dolores, Zackai, Elaine H., Muenke, Maximilian

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