Torthaí cuardaigh - Lindstrom, Kristin

A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy() de réir Kaczmarczyk, Aneta, Baker, Mark, Diddle, Julianna, Yuzyuk, Tatiana, Valle, David, Lindstrom, Kristin

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Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome de réir Julien, Daniel C., Woolgar, Kara, Pollard, Laura, Miller, Holly, Desai, Ankit, Lindstrom, Kristin, Kishnani, Priya S.

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Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights de réir Martins, Ana Maria, Lindstrom, Kristin, Kyosen, Sandra Obikawa, Munoz-Rojas, Maria Veronica, Thibault, Nathan, Polgreen, Lynda E.

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Low Bone Mineral Density is a Common Finding in Patients with Homocystinuria de réir Weber, David R., Coughlin, Curtis, Brodsky, Jill L., Lindstrom, Kristin, Ficicioglu, Can, Kaplan, Paige, Freehauf, Cynthia L., Levine, Michael A.

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A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction de réir Shao, Qing, Lindstrom, Kristin, Shi, Ruoyang, Kelly, John, Schroeder, Audrey, Juusola, Jane, Levine, Kara L., Esseltine, Jessica L., Penuela, Silvia, Jackson, Michael F., Laird, Dale W.

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Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features de réir Rosato, Simonetta, Unger, Sheila, Campos-Xavier, Belinda, Caraffi, Stefano Giuseppe, Beltrami, Laura, Pollazzon, Marzia, Ivanovski, Ivan, Castori, Marco, Bonasoni, Maria Paola, Comitini, Giuseppina, Nikkels, Peter G. J., Lindstrom, Kristin, Umandap, Christine, Superti-Furga, Andrea, Garavelli, Livia

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Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics() de réir Adams, Darius, Andersson, Hans C., Bausell, Heather, Crivelly, Kea, Eggerding, Caroline, Lah, Melissa, Lilienstein, Joshua, Lindstrom, Kristin, McNutt, Markey, Ray, Joseph W., Saavedra, Heather, Sacharow, Stephanie, Starin, Danielle, Tiffany-Amaro, Jennifer, Thomas, Janet, Vucko, Erika, Wessenberg, Leah B., Whitehall, Kaleigh

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De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease de réir Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M, Cho, Megan T, Krokosky, Alyson, Turner, Clesson E, Lindstrom, Kristin, Bupp, Caleb, Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A, Lewis, Andrea M, White, Janson J, Jhangiani, Shalani N, Gulec, Elif Yilmaz, Lalani, Seema R, Lupski, James R, Retterer, Kyle, Schnur, Rhonda E, Wentzensen, Ingrid, Bale, Sherri, Chung, Wendy K

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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes de réir Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek Steve, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin

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De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions de réir Fregeau, Brieana, Kim, Bum Jun, Hernández-García, Andrés, Jordan, Valerie K., Cho, Megan T., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rosenfeld, Jill A., Bhoj, Elizabeth, Zackai, Elaine H., Sacharow, Stephanie, Barañano, Kristin, Bosch, Daniëlle G.M., de Vries, Bert B.A., Lindstrom, Kristin, Schroeder, Audrey, James, Philip, Kulch, Peggy, Lalani, Seema R., van Haelst, Mieke M., van Gassen, Koen L.I., van Binsbergen, Ellen, Barkovich, A. James, Scott, Daryl A., Sherr, Elliott H.

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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON de réir Dingemans, Alexander J. M., Truijen, Kim M. G., Kim, Jung-Hyun, Alaçam, Zahide, Faivre, Laurence, Collins, Kathleen M., Gerkes, Erica H., van Haelst, Mieke, van de Laar, Ingrid M. B. H., Lindstrom, Kristin, Nizon, Mathilde, Pauling, James, Heropolitańska-Pliszka, Edyta, Plomp, Astrid S., Racine, Caroline, Sachdev, Rani, Sinnema, Margje, Skranes, Jon, Veenstra-Knol, Hermine E., Verberne, Eline A., Vulto-van Silfhout, Anneke T., Wilsterman, Marlon E. F., Ahn, Eun-Young Erin, de Vries, Bert B. A., Vissers, Lisenka E. L. M.

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Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons de réir Runge, Karen, Mathieu, Rémi, Bugeon, Stéphane, Lafi, Sahra, Beurrier, Corinne, Sahu, Surajit, Schaller, Fabienne, Loubat, Arthur, Herault, Leonard, Gaillard, Stéphane, Pallesi-Pocachard, Emilie, Montheil, Aurélie, Bosio, Andreas, Rosenfeld, Jill A., Hudson, Eva, Lindstrom, Kristin, Mercimek-Andrews, Saadet, Jeffries, Lauren, van Haeringen, Arie, Vanakker, Olivier, Van Hecke, Audrey, Amrom, Dina, Küry, Sebastien, Ratner, Chana, Jethva, Reena, Gamble, Candace, Jacq, Bernard, Fasano, Laurent, Santpere, Gabriel, Lorente-Galdos, Belen, Sestan, Nenad, Gelot, Antoinette, Giacuzz, Sylvie, Goebbels, Sandra, Represa, Alfonso, Cardoso, Carlos, Cremer, Harold, de Chevigny, Antoine

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Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons de réir Runge, Karen, Mathieu, Rémi, Bugeon, Stéphane, Lafi, Sahra, Beurrier, Corinne, Sahu, Surajit, Schaller, Fabienne, Loubat, Arthur, Herault, Leonard, Gaillard, Stéphane, Pallesi-Pocachard, Emilie, Montheil, Aurélie, Bosio, Andreas, Rosenfeld, Jill A., Hudson, Eva, Lindstrom, Kristin, Mercimek-Andrews, Saadet, Jeffries, Lauren, van Haeringen, Arie, Vanakker, Olivier, Van Hecke, Audrey, Amrom, Dina, Küry, Sebastien, Ratner, Chana, Jethva, Reena, Gamble, Candace, Jacq, Bernard, Fasano, Laurent, Santpere, Gabriel, Lorente-Galdos, Belen, Sestan, Nenad, Gelot, Antoinette, Giacuzz, Sylvie, Goebbels, Sandra, Represa, Alfonso, Cardoso, Carlos, Cremer, Harold, de Chevigny, Antoine

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Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features de réir Li, Dong, Wang, Qin, Gong, Naihua N., Kurolap, Alina, Feldman, Hagit Baris, Boy, Nikolas, Brugger, Melanie, Grand, Katheryn, McWalter, Kirsty, Guillen Sacoto, Maria J., Wakeling, Emma, Hurst, Jane, March, Michael E., Bhoj, Elizabeth J., Nowaczyk, Małgorzata J. M., Gonzaga-Jauregui, Claudia, Mathew, Mariam, Dava-Wala, Ashita, Siemon, Amy, Bartholomew, Dennis, Huang, Yue, Lee, Hane, Martinez-Agosto, Julian A., Schwaibold, Eva M. C., Brunet, Theresa, Choukair, Daniela, Pais, Lynn S., White, Susan M., Christodoulou, John, Brown, Dana, Lindstrom, Kristin, Grebe, Theresa, Tiosano, Dov, Kayser, Matthew S., Tan, Tiong Yang, Deardorff, Matthew A., Song, Yuanquan, Hakonarson, Hakon

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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation de réir Basilicata, M. Felicia, Bruel, Ange-Line, Semplicio, Giuseppe, Keller Valsecchi, Claudia Isabelle, Aktaş, Tuğçe, Duffourd, Yannis, Rumpf, Tobias, Morton, Jenny, Bache, Iben, Szymanski, Witold G., Gilissen, Christian, Vanakker, Olivier, Õunap, Katrin, Mittler, Gerhard, van der Burgt, Ineke, Chehadeh-Djebbar, Salima El, Cho, Megan T, Pfundt, Rolph, Tan, Tiong Yang, Kirchhoff, Maria, Menten, Björn, Vergult, Sarah, Lindstrom, Kristin, Reis, André, Johnson, Diana S., Fryer, Alan, McKay, Victoria, Study, DDD, Fisher, Richard B., Thauvin-Robinet, Christel, Francis, David, Roscioli, Tony, Pajusalu, Sander, Radtke, Kelly, Ganesh, Jaya, Brunner, Han G., Wilson, Meredith, Faivre, Laurence, Kalscheuer, Vera M., Thevenon, Julien, Akhtar, Asifa

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome de réir Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Ahmed, Heba M. Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, María Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukas, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome de réir Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Jalal Ahmed, Heba M., Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, Marıá Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism de réir Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development de réir van Woerden, Geeske M., Bos, Melanie, de Konink, Charlotte, Distel, Ben, Avagliano Trezza, Rossella, Shur, Natasha E., Barañano, Kristin, Mahida, Sonal, Chassevent, Anna, Schreiber, Allison, Erwin, Angelika L., Gripp, Karen W., Rehman, Fatima, Brulleman, Saskia, McCormack, Róisín, de Geus, Gwynna, Kalsner, Louisa, Sorlin, Arthur, Bruel, Ange‐Line, Koolen, David A., Gabriel, Melissa K., Rossi, Mari, Fitzpatrick, David R., Wilkie, Andrew O.M., Calpena, Eduardo, Johnson, David, Brooks, Alice, van Slegtenhorst, Marjon, Fleischer, Julie, Groepper, Daniel, Lindstrom, Kristin, Innes, A. Micheil, Goodwin, Allison, Humberson, Jennifer, Noyes, Amanda, Langley, Katherine G., Telegrafi, Aida, Blevins, Amy, Hoffman, Jessica, Guillen Sacoto, Maria J., Juusola, Jane, Monaghan, Kristin G., Punj, Sumit, Simon, Marleen, Pfundt, Rolph, Elgersma, Ype, Kleefstra, Tjitske

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder de réir Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias

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