Ngā hua rapu - Barbouth, Deborah

Early-Onset Marfan Syndrome: A Case Series mā Ardhanari, Mohanageetha, Barbouth, Deborah, Swaminathan, Sethuraman

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia mā Swaminathan, Sethuraman, Gorla, Sudheer R., Barbouth, Deborah S.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome mā Shpiner, Danielle S., Bardos, Jonah, Barbouth, Deborah S., Moore, Henry P.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes mā Orenstein, Marissa, Barbouth, Deborah, Bodamer, Olaf A, Weinreb, Neal J

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

COVID‐19 in a child with severe propionic acidemia mā Saad‐Naguib, Michael, Barbouth, Deborah, Thorson, Willa, Hacker, Stephanie, Tekin, Mustafa

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis mā Gorla, Sudheer R., Raja, Kishore R., Garg, Ashish, Barbouth, Deborah S., Rusconi, Paolo G.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-asso... mā Pastori, Chiara, Peschansky, Veronica J., Barbouth, Deborah, Mehta, Arpit, Silva, Jose P., Wahlestedt, Claes

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience: Education and Barriers assessment for Jewish Genetic Diseases mā Warsch, Jessica R. L., Warsch, Sean, Herman, Elizabeth, Zakarin, Lauren, Schneider, Adele, Hoffman, Jodi, Wasserman, Deborah, Barbouth, Deborah

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease mā Borja, Nicholas, Bivona, Stephanie, Peart, Lé Shon, Johnson, Brittany, Gonzalez, Joanna, Barbouth, Deborah, Moore, Henry, Guo, Shengru, Bademci, Guney, Tekin, Mustafa

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray mā Fan, Yao-Shan, Ouyang, Xiaomei, Peng, Jinghong, Sacharow, Stephanie, Tekin, Mustafa, Barbouth, Deborah, Bodamer, Olaf, Yusupov, Roman, Navarrete, Christina, Heller, Ana H, Pena, Sérgio DJ

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission mā Yrigollen, Carolyn M, Martorell, Loreto, Durbin-Johnson, Blythe, Naudo, Montserrat, Genoves, Jordi, Murgia, Alessandra, Polli, Roberta, Zhou, Lili, Barbouth, Deborah, Rupchock, Abigail, Finucane, Brenda, Latham, Gary J, Hadd, Andrew, Berry-Kravis, Elizabeth, Tassone, Flora

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic mā Ryan, Emory, Lopez, Grisel, Balwani, Manisha, Barbouth, Deborah, Burrow, T. Andrew, Ginns, Edward, Goker-Alpan, Ozlem, Grabowski, Gregory, Kartha, Reena, Kishnani, Priya, Lau, Heather, Lee, Chung, Mistry, Pramod, Maegawa, Gustavo, Packman, Seymour, Prada, Carlos, Rosenbloom, Barry, Lal, Tamanna Roshan, Schiffmann, Raphael, Weinreb, Neal, Sidransky, Ellen

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Gaucher disease and SARS-CoV-2 infection: Emerging management challenges mā Mistry, Pramod, Balwani, Manisha, Barbouth, Deborah, Burrow, T. Andrew, Ginns, Edward I., Goker-Alpan, Ozlem, Grabowski, Gregory A., Kartha, Reena V., Kishnani, Priya S., Lau, Heather, Lee, Chung U., Lopez, Grisel, Maegawa, Gustavo, Packman, Seymour, Prada, Carlos, Rosenbloom, Barry, Lal, Tamanna Roshan, Schiffmann, Rapheal, Weinreb, Neal, Sidransky, Ellen

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder mā Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder mā Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Craigen, William J., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia mā Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N., Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T., Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G., McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M., Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Guillen Sacoto, Maria J., Safina, Nicole P., Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H., Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Al Shamsi, Aisha Mohamed, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J., Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E., Pasquier, Laurent, Küry, Sébastien

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 mā Castilla-Vallmanya, Laura, Selmer, Kaja K., Dimartino, Clémantine, Rabionet, Raquel, Blanco-Sánchez, Bernardo, Yang, Sandra, Reijnders, Margot R. F., van Essen, Antonie J., Oufadem, Myriam, Vigeland, Magnus D., Stadheim, Barbro, Houge, Gunnar, Cox, Helen, Kingston, Helen, Clayton-Smith, Jill, Innis, Jeffrey W., Iascone, Maria, Cereda, Anna, Gabbiadini, Sara, Chung, Wendy K., Sanders, Victoria, Charrow, Joel, Bryant, Emily, Millichap, John, Vitobello, Antonio, Thauvin, Christel, Mau-Them, Frederic Tran, Faivre, Laurence, Lesca, Gaetan, Labalme, Audrey, Rougeot, Christelle, Chatron, Nicolas, Sanlaville, Damien, Christensen, Katherine M., Kirby, Amelia, Lewandowski, Raymond, Gannaway, Rachel, Aly, Maha, Lehman, Anna, Clarke, Lorne, Graul-Neumann, Luitgard, Zweier, Christiane, Lessel, Davor, Lozic, Bernarda, Aukrust, Ingvild, Peretz, Ryan, Stratton, Robert, Smol, Thomas, Dieux-Coëslier, Anne, Meira, Joanna, Wohler, Elizabeth, Sobreira, Nara, Beaver, Erin M., Heeley, Jennifer, Briere, Lauren C., High, Frances A., Sweetser, David A., Walker, Melissa A., Keegan, Catherine E., Jayakar, Parul, Shinawi, Marwan, Kerstjens-Frederikse, Wilhelmina S., Earl, Dawn L., Siu, Victoria M., Reesor, Emma, Yao, Tony, Hegele, Robert A., Vaske, Olena M., Rego, Shannon, Shapiro, Kevin A., Wong, Brian, Gambello, Michael J., McDonald, Marie, Karlowicz, Danielle, Colombo, Roberto, Serretti, Alessandro, Pais, Lynn, O’Donnell-Luria, Anne, Wray, Alison, Sadedin, Simon, Chong, Belinda, Tan, Tiong Y., Christodoulou, John, White, Susan M., Slavotinek, Anne, Barbouth, Deborah, Swols, Dayna Morel, Parisot, Mélanie, Bole-Feysot, Christine, Nitschké, Patrick, Pingault, Véronique, Munnich, Arnold, Cho, Megan T., Cormier-Daire, Valérie, Balcells, Susanna, Lyonnet, Stanislas, Grinberg, Daniel, Amiel, Jeanne, Urreizti, Roser, Gordon, Christopher T.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa