Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia von CAMBI, F, TANG, X.-M, CORDRAY, P, FAIN, P. R, KEPPEN, L. D, BARKER, D. F

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Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker von Kulharya, Anita S, Garcia-Heras, Jaime, Radtke, Heather B, Norris, Karen S, Keppen, Laura D, Flannery, David B

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Etiological heterogeneity in X-linked spastic paraplegia von KEPPEN, L. D, LEPPERT, M. F, O'CONNELL, P, NAKAMURA, Y, STAUFFER, D, LATHROP, M, LALOUEL, J.-M, WHITE, R

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Confirmation of autosomal dominant transmission of the DiGeorge malformation complex von Keppen, Laura Davis, Fasules, James W., Burks, A. Wesley, Gollin, Susanne M., Sawyer, Jeffrey R., Miller, Connie H.

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Ocular and Systemic Findings in the Aarskog (Facial-digital-genital) Syndrome von Brodsky, Michael C., Keppen, Laura Davis, Rice, Charles D., Ranells, Judith D.

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Zinc deficiency acts as a co-teratogen with alcohol in fetal alcohol syndrome von KEPPEN, L. D, PYSHER, T, RENNERT, O. M

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Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency von Oglesbee, Devin, He, Miao, Majumder, Nilanjana, Vockley, Jerry, Ahmad, Ayesha, Angle, Brad, Burton, Barbara, Charrow, Joel, Ensenauer, Regina, Ficicioglu, Can H, Keppen, Laura Davis, Marsden, Deborah, Tortorelli, Silvia, Hahn, Si Houn, Matern, Dietrich

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FISH detection of Wolf-Hirschhorn syndrome : exclusion of D4F26 as critical site von JOHNSON, V. P, ALTHERR, M. R, BLAKE, J. M, KEPPEN, L. D

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Anophthalmia in delleman syndrome von Brodsky, Michael C., Harper, Richard A., Keppen, Laura Davis, Glasier, Charles M.

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Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5 von Keppen, L. D., Gollin, S. M., Edwards, D., Sawyer, J., Wilson, W., Overhauser, J.

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New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis von Johnson, Virginia P., Keppen, Laura D., Carpenter, Mary S., Randall, Brad B., Newby, Paul E.

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Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities von Adam, Margaret P., Hennekam, Raoul C.M., Keppen, Laura Davis, Bull, Marilyn J., Clericuzio, Carol L., Burke, Leah W., Ormond, Kelly E., Hoyme, Eugene H.

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Roberts syndrome with normal cell division von Keppen, Laura Davis, Gollin, Susanne M., Seibert, Joanna J., Sisken, Jesse E.

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Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia von Keppen, Laura Davis, Brodsky, Michael C., Michael, Judith M., Poindexter, Ann R.

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Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5 von Keppen, L D, Gollin, S M, Edwards, D, Sawyer, J, Wilson, W, Overhauser, J

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Brief clinical report : Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia von KEPPEN, L. D, BRODSKY, M. C, MICHAEL, J. M, POINDEXTER, A. R

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Anophthalmia in Delleman syndrome von Brodsky, M C, Harper, R A, Keppen, L D, Glasier, C M

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CLINICAL PHENOTYPE AND MOLECULAR ANALYSIS OF A 3-GENERATION FAMILY WITH AN INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-5 von KEPPEN, LD, GOLLIN, SM, EDWARDS, D, SAWYER, J, WILSON, W, OVERHAUSER, J

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease von Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C., Campo, Miguel del, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M., Urraca, Nora, Bosfield, Kerri, Brown, Chester W., Lydigsen, Holly, Mroczkowski, Henry J., Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Peña, Lumaka, Aimé, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D., Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S., Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E., Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S., Perry, Denise L., Belmont, John, Taft, Ryan J.

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease von Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C, del Campo, Miguel, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M, Urraca, Nora, Bosfield, Kerri, Brown, Chester W, Lydigsen, Holly, Mroczkowski, Henry J, Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Pena, Lumaka, Aime, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D, Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S, Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E, Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S, Perry, Denise L, Belmont, John, Taft, Ryan J

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