Pseudo-hypertriglyceridemia in a 2-year-old male with global developmental delay, myopathy and adrenal hypoplasia von Fu, Xiaowei, Williamson, Claire P., Bosfield, Kerri

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eP005: Complex glycerol kinase deficiency and X-linked intellectual disability von Bosfield, Kerri, Williamson, Claire, Fu, Xiaowei

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Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature von Bosfield, Kerri, Diaz, Jullianne, Leon, Eyby

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Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum von Bosfield, Kerri, Albert, Jessica, Cheng, Nancy, Swaringer, Tiffany, Cusmano-Ozog, Kristina, Regier, Debra S.

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Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations von Bosfield, Kerri, Regier, Debra S., Viall, Sarah, Hicks, Rebecca, Shur, Natasha, Grant, Christina L.

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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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Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis von Alqarajeh, Firas, Omorodion, Jacklyn, Bosfield, Kerri, Shur, Natasha, Ferreira, Carlos R.

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Pseudo-hypertriglyceridemia in a 2-year-old male with global developmental delay, myopathy and adrenal hypoplasia von Fu, Xiaowei, Williamson, Claire P, Bosfield, Kerri

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Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature von Bosfield, Kerri, Diaz, Jullianne, Leon, Eyby

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