Søgeresultater - del Gaudio, Daniela

Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO af Salguero, Maria V, Chan, Karen, Greeley, Siri Atma W, Dyamenahalli, Umesh, Waggoner, Darrel, del Gaudio, Daniela, Rajiyah, Tara, Lemelman, Michelle

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GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants af Sanyoura, May, Letourneau, Lisa, Knight Johnson, Amy E., del Gaudio, Daniela, Greeley, Siri Atma W., Philipson, Louis H., Naylor, Rochelle N.

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CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG) af Deignan, Joshua L., Astbury, Caroline, Cutting, Garry R., del Gaudio, Daniela, Gregg, Anthony R., Grody, Wayne W., Monaghan, Kristin G., Richards, Sue

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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster af Sahoo, Trilochan, del Gaudio, Daniela, German, Jennifer R, Shinawi, Marwan, Peters, Sarika U, Person, Richard E, Garnica, Adolfo, Cheung, Sau Wai, Beaudet, Arthur L

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A Point Mutation in the Gene for Asparagine-Linked Glycosylation 10B (Alg10b) Causes Nonsyndromic Hearing Impairment in Mice (Mus musculus) af Probst, Frank J., Corrigan, Rebecca R., del Gaudio, Daniela, Salinger, Andrew P., Lorenzo, Isabel, Gao, Simon S., Chiu, Ilene, Xia, Anping, Oghalai, John S., Justice, Monica J.

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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings af Li, Zejuan, Schonberg, Rhonda, Guidugli, Lucia, Johnson, Amy Knight, Arnovitz, Stephen, Yang, Sandra, Scafidi, Joseph, Summar, Marshall L, Vezina, Gilbert, Das, Soma, Chapman, Kimberly, del Gaudio, Daniela

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Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion af Cheng, Yu-Wei, Tan, Christopher A, Minor, Agata, Arndt, Kelly, Wysinger, Latrice, Grange, Dorothy K, Kozel, Beth A, Robin, Nathaniel H, Waggoner, Darrel, Fitzpatrick, Carrie, Das, Soma, del Gaudio, Daniela

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Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency af Moretti, Paolo, Peters, Sarika U., del Gaudio, Daniela, Sahoo, Trilochan, Hyland, Keith, Bottiglieri, Teodoro, Hopkin, Robert J., Peach, Elizabeth, Min, Sang Hee, Goldman, David, Roa, Benjamin, Bacino, Carlos A., Scaglia, Fernando

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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype af Hanchard, Neil A, Carvalho, Claudia MB, Bader, Patricia, Thome, Aaron, Omo-Griffith, Lisa, del Gaudio, Daniela, Pehlivan, Davut, Fang, Ping, Schaaf, Christian P, Ramocki, Melissa B, Lupski, James R, Cheung, Sau Wai

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Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA af Sanyoura, May, Jacobsen, Laura, Carmody, David, del Gaudio, Daniela, Alkorta-Aranburu, Gorka, Arndt, Kelly, Hu, Ying, Kobiernicki, Frances, Kusmartseva, Irina, Atkinson, Mark A., Philipson, Louis H., Schatz, Desmond, Campbell-Thompson, Martha, Greeley, Siri Atma W.

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FOXP3 Mutations Causing Early-Onset Insulin-Requiring Diabetes but Without Other Features of IPEX Syndrome: FOXP3 mutations with IPEX-like Diabetes af Hwang, Jessica L., Park, Soo-Young, Ye, Honggang, Sanyoura, May, Pastore, Ashley N., Carmody, David, del Gaudio, Daniela, Wilson, Janna F., Hanis, Craig L., Liu, Xiaoming, Atzmon, Gil, Glaser, Benjamin, Philipson, Louis H., Greeley, Siri Atma W.

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Exome sequencing and targeted analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes af Sun, Miao, Johnson, Amy Knight, Nelakuditi, Viswateja, Guidugli, Lucia, Fischer, David, Arndt, Kelly, Ma, Lan, Sandford, Erin, Shakkottai, Vikram, Boycott, Kym, Chardon, Jodi Warman, Li, Zejuan, del Gaudio, Daniela, Burmeister, Margit, Waggoner, Darrel J., Gomez, Christopher M., Das, Soma

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Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders af DeRoin, Lia, Cavalcante de Andrade Silva, Marcela, Petras, Kristin, Arndt, Kelly, Phillips, Nathaniel, Wanjari, Pankhuri, Subramanian, Hari Prasanna, Montes, David, McElherne, James, Theissen, Megan, Briese, Renee, Das, Soma, Godley, Lucy A., Segal, Jeremy, del Gaudio, Daniela, Fitzpatrick, Carrie, Churpek, Jane E.

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome af Carvalho, Claudia M. B., Ramocki, Melissa B., Pehlivan, Davut, Franco, Luis M., Gonzaga-Jauregui, Claudia, Fang, Ping, McCall, Alanna, Pivnick, Eniko Karman, Hines-Dowell, Stacy, Seaver, Laurie, Friehling, Linda, Lee, Sansan, Smith, Rosemarie, del Gaudio, Daniela, Withers, Marjorie, Liu, Pengfei, Cheung, Sau Wai, Belmont, John W., Zoghbi, Huda Y., Hastings, P. J., Lupski, James R.

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Update of variants identified in the pancreatic β‐cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes af De Franco, Elisa, Saint‐Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E., Aguilar‐Bryan, Lydia, Bowman, Pamela, Arnoux, Jean‐Baptiste, Larsen, Annette Rønholt, Sanyoura, May, Greeley, Siri Atma W., Calzada‐León, Raúl, Harman, Bradley, Houghton, Jayne A. L., Nishimura‐Meguro, Elisa, Laver, Thomas W., Ellard, Sian, del Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné‐Chantelot, Christine, Flanagan, Sarah E.

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Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations af Feurstein, Simone, Adegunsoye, Ayodeji, Mojsilovic, Danijela, Vij, Rekha, West DePersia, Allison H., Rajagopal, Padma Sheila, Osman, Afaf, Collins, Robert H., Kim, Raymond H., Gore, Steven D., Greenberg, Peter, Godley, Lucy A., Li, Zejuan, del Gaudio, Daniela, Subramanian, Hari Prasanna, Das, Soma, Walsh, Tom, Gulsuner, Suleyman, Segal, Jeremy P., Husain, Aliya N., Gurbuxani, Sandeep, King, Mary-Claire, Strek, Mary E., Churpek, Jane E.

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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals af Yap, Kai Lee, Johnson, Amy E. Knight, Fischer, David, Kandikatla, Priscilla, Deml, Jacea, Nelakuditi, Viswateja, Halbach, Sara, Jeha, George S., Burrage, Lindsay C., Bodamer, Olaf, Benavides, Valeria C., Lewis, Andrea M., Ellard, Sian, Shah, Pratik, Cody, Declan, Diaz, Alejandro, Devarajan, Aishwarya, Truong, Lisa, Greeley, Siri Atma W., De Leó-Crutchlow, Diva D., Edmondson, Andrew C., Das, Soma, Thornton, Paul, Waggoner, Darrel, del Gaudio, Daniela

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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases af Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Horn, Sarah Rapisardo, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Ann Keels, Martha, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel SG, del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana

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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders af Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie-José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean-Philippe P., de Vries, Bert B.A.

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Germline variants drive myelodysplastic syndrome in young adults af Feurstein, Simone, Churpek, Jane E., Walsh, Tom, Keel, Sioban, Hakkarainen, Marja, Schroeder, Thomas, Germing, Ulrich, Geyh, Stefanie, Heuser, Michael, Thol, Felicitas, Pohlkamp, Christian, Haferlach, Torsten, Gao, Juehua, Owen, Carolyn, Goehring, Gudrun, Schlegelberger, Brigitte, Verma, Divij, Krause, Daniela S., Gao, Guimin, Cronin, Tara, Gulsuner, Suleyman, Lee, Ming, Pritchard, Colin C., Subramanian, Hari Prasanna, del Gaudio, Daniela, Li, Zejuan, Das, Soma, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla, Wang, Eunice S., Griffiths, Elizabeth A., Döhner, Konstanze, Döhner, Hartmut, King, Mary-Claire, Godley, Lucy A.

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