Kết quả tìm kiếm - Sachdev, Rani

Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly Bằng Temple, Suzanna E. L., Sachdev, Rani, Ellaway, Carolyn

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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX Bằng Pandelache, Alison, Francis, David, Oertel, Ralph, Dickson, Rebecca, Sachdev, Rani, Ling, Ling, Gamage, Dinusha, Godler, David E.

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SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome Bằng Migliore, Chiara, Vendramin, Anna, McKee, Shane, Prontera, Paolo, Faravelli, Francesca, Sachdev, Rani, Dias, Patricia, Mascaro, Martina, Licastro, Danilo, Meroni, Germana

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Paediatric genomic testing: Navigating genomic reports for the general paediatrician Bằng Shah, Margit, Selvanathan, Arthavan, Baynam, Gareth, Berman, Yemima, Boughtwood, Tiffany, Freckmann, Mary‐Louise, Parasivam, Gayathri, White, Susan M, Grainger, Natalie, Kirk, Edwin P, Ma, Alan SL, Sachdev, Rani

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A de novo mutation in the Sodium-Activated Potassium channel KCNT2 alters ion selectivity and causes epileptic encephalopathy Bằng Gururaj, Sushmitha, Palmer, Elizabeth Emma, Sheehan, Garrett D, Kandula, Tejaswi, Macintosh, Rebecca, Ying, Kevin, Morris, Paula, Tao, Jiang, Dias, Kerith-Rae, Zhu, Ying, Dinger, Marcel E., Cowley, Mark J., Kirk, Edwin P, Roscioli, Tony, Sachdev, Rani, Duffey, Michael E, Bye, Ann, Bhattacharjee, Arin

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Paediatric genomic testing: Navigating medicare rebatable genomic testing Bằng Sachdev, Rani, Field, Mike, Baynam, Gareth S, Beilby, John, Berarducci, Maria, Berman, Yemima, Boughtwood, Tiffany, Cusack, Marie B, Fitzgerald, Vanessa, Fletcher, Jeffery, Freckmann, Mary‐Louise, Grainger, Natalie, Kirk, Edwin, Lundie, Ben, Lunke, Sebastian, McGregor, Lesley, Mowat, David, Parasivam, Gayathri, Tyrell, Vanessa, Wallis, Mathew, White, Susan M, S L Ma, Alan

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Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach Bằng Marques, Isabel, Sá, Maria João, Soares, Gabriela, Mota, Maria do Céu, Pinheiro, Carla, Aguiar, Lisa, Amado, Marta, Soares, Christina, Calado, Angelina, Dias, Patrícia, Sousa, Ana Berta, Fortuna, Ana Maria, Santos, Rosário, Howell, Katherine B, Ryan, Monique M, Leventer, Richard J, Sachdev, Rani, Catford, Rachael, Friend, Kathryn, Mattiske, Tessa R, Shoubridge, Cheryl, Jorge, Paula

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Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy Bằng Palmer, Elizabeth E., Jarrett, Kelsey E., Sachdev, Rani K., Al Zahrani, Fatema, Hashem, Mais Omar, Ibrahim, Niema, Sampaio, Hugo, Kandula, Tejaswi, Macintosh, Rebecca, Gupta, Rajat, Conlon, Donna M., Billheimer, Jeffrey T., Rader, Daniel J., Funato, Kouichi, Walkey, Christopher J., Lee, Chang Seok, Loo, Christine, Brammah, Susan, Elakis, George, Zhu, Ying, Buckley, Michael, Kirk, Edwin P., Bye, Ann, Alkuraya, Fowzan S., Roscioli, Tony, Lagor, William R.

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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness Bằng Palmer, Elizabeth E., Schofield, Deborah, Shrestha, Rupendra, Kandula, Tejaswi, Macintosh, Rebecca, Lawson, John A., Andrews, Ian, Sampaio, Hugo, Johnson, Alexandra M., Farrar, Michelle A., Cardamone, Michael, Mowat, David, Elakis, George, Lo, William, Zhu, Ying, Ying, Kevin, Morris, Paula, Tao, Jiang, Dias, Kerith‐Rae, Buckley, Michael, Dinger, Marcel E., Cowley, Mark J., Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Sachdev, Rani K.

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Phenotypic insights into ADCY5‐associated disease Bằng Chang, Florence C.F., Westenberger, Ana, Dale, Russell C., Smith, Martin, Pall, Hardev S., Perez‐Dueñas, Belen, Grattan‐Smith, Padraic, Ouvrier, Robert A., Mahant, Neil, Hanna, Bernadette C., Hunter, Matthew, Lawson, John A., Max, Christoph, Sachdev, Rani, Meyer, Esther, Crimmins, Dennis, Pryor, Donald, Morris, John G.L., Münchau, Alex, Grozeva, Detelina, Carss, Keren J., Raymond, Lucy, Kurian, Manju A., Klein, Christine, Fung, Victor S.C.

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RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features Bằng Palmer, Elizabeth E., Carroll, Renee, Shaw, Marie, Kumar, Raman, Minoche, Andre E., Leffler, Melanie, Murray, Lucinda, Macintosh, Rebecca, Wright, Dale, Troedson, Chris, McKenzie, Fiona, Townshend, Sharron, Ward, Michelle, Nawaz, Urwah, Ravine, Anja, Runke, Cassandra K., Thorland, Erik C., Hummel, Marybeth, Foulds, Nicola, Pichon, Olivier, Isidor, Bertrand, Le Caignec, Cédric, Demeer, Bénédicte, Andrieux, Joris, Albarazi, Salam Hadah, Bye, Ann, Sachdev, Rani, Kirk, Edwin P., Cowley, Mark J., Field, Mike, Gecz, Jozef

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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome Bằng Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David J., Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachdev, Rani, McGillivray, George, Edwards, Matthew, Kirk, Edwin, Collins, Felicity, Jones, Kristi, Taylor, Juliet, Hayes, Ian, Thompson, Elizabeth, Barnett, Christopher, Haan, Eric, Freckmann, Mary-Louise, Turner, Anne, White, Susan, Kamien, Ben, Ma, Alan, Mackenzie, Fiona, Baynam, Gareth, Kiraly-Borri, Cathy, Field, Michael, Dudding-Byth, Tracey, Algar, Elizabeth M.

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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON Bằng 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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A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures Bằng Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome Bằng 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 Bằng 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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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Bằng Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P., Pinner, Jason, Sandaradura, Sarah A., Buckley, Michael F., Krzesinski, Emma I., de Silva, Michelle G., Brett, Gemma R., Boggs, Kirsten, Mowat, David, Kirk, Edwin P., Adès, Lesley C., Akesson, Lauren S., Amor, David J., Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J., Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B., Edwards, Matthew, Elakis, George, Fahey, Michael C., Fennell, Andrew, Fowles, Lindsay, Gallacher, Lyndon, Higgins, Megan, Howell, Katherine B., Hunt, Lauren, Hunter, Matthew F., Jones, Kristi J., King, Sarah, Kumble, Smitha, Lang, Sarah, Le Moing, Maelle, Ma, Alan, Phelan, Dean, Quinn, Michael C. J., Richards, Anna, Richmond, Christopher M., Riseley, Jessica, Rodgers, Jonathan, Sachdev, Rani, Sadedin, Simon, Schlapbach, Luregn J., Smith, Janine, Springer, Amanda, Tan, Natalie B., Tan, Tiong Y., Temple, Suzanna L., Theda, Christiane, Vasudevan, Anand, White, Susan M., Yeung, Alison, Zhu, Ying, Martyn, Melissa, Best, Stephanie, Roscioli, Tony, Christodoulou, John, Stark, Zornitza

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome Bằng Stephenson, Sarah E.M., Costain, Gregory, Blok, Laura E.R., Silk, Michael A., Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E., Dowling, James J., Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z., Rodan, Lance H., Schwartz, Marc A., Picker, Jonathan, Lynch, Sally A., Gupta, Aditi, Rasmussen, Kristen J., Schimmenti, Lisa A., Klee, Eric W., Niu, Zhiyv, Agre, Katherine E., Chilton, Ilana, Chung, Wendy K., Revah-Politi, Anya, Au, P.Y. Billie, Griffith, Christopher, Racobaldo, Melissa, Raas-Rothschild, Annick, Ben Zeev, Bruria, Barel, Ortal, Moutton, Sebastien, Morice-Picard, Fanny, Carmignac, Virginie, Cornaton, Jenny, Marle, Nathalie, Devinsky, Orrin, Stimach, Chandler, Wechsler, Stephanie Burns, Hainline, Bryan E., Sapp, Katie, Willems, Marjolaine, Bruel, Ange-line, Dias, Kerith-Rae, Evans, Carey-Anne, Roscioli, Tony, Sachdev, Rani, Temple, Suzanna E.L., Zhu, Ying, Baker, Joshua J., Scheffer, Ingrid E., Gardiner, Fiona J., Schneider, Amy L., Muir, Alison M., Mefford, Heather C., Crunk, Amy, Heise, Elizabeth M., Millan, Francisca, Monaghan, Kristin G., Person, Richard, Rhodes, Lindsay, Richards, Sarah, Wentzensen, Ingrid M., Cogné, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Vincent, Marie, Besnard, Thomas, Piton, Amelie, Marcelis, Carlo, Kato, Kohji, Koyama, Norihisa, Ogi, Tomoo, Goh, Elaine Suk-Ying, Richmond, Christopher, Amor, David J., Boyce, Jessica O., Morgan, Angela T., Hildebrand, Michael S., Kaspi, Antony, Bahlo, Melanie, Friðriksdóttir, Rún, Katrínardóttir, Hildigunnur, Sulem, Patrick, Stefánsson, Kári, Björnsson, Hans Tómas, Mandelstam, Simone, Morleo, Manuela, Mariani, Milena, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Capra, Valeria, Wallis, Mathew, Jansen, Sandra, Waisfisz, Quinten, de Haan, Hugoline, Sadedin, Simon, Lim, Sze Chern, White, Susan M., Ascher, David B., Schenck, Annette, Lockhart, Paul J., Christodoulou, John, Tan, Tiong Yang

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