检索结果 - Kerr, Bronwyn 

Prominent Lower‐Limb Involvement in a Family with Myoclonus‐Dystonia 由 Kobylecki, Christopher, Damodaran, Dinesh, Kerr, Bronwyn, Newton, Richard W., Silverdale, Monty A.

获取全文 获取全文 获取全文

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Ab... 由 Vrečar, Irena, Innes, Josie, Jones, Elizabeth A., Kingston, Helen, Reardon, William, Kerr, Bronwyn, Clayton-Smith, Jill, Douzgou, Sofia

获取全文 获取全文 获取全文

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype? 由 Allanson, Judith E, Annerén, Göran, Aoki, Yoki, Armour, Christine M, Bondeson, Marie-Louise, Cave, Helene, Gripp, Karen W, Kerr, Bronwyn, Nystrom, Anna-Maja, Sol-Church, Katia, Verloes, Alain, Zenker, Martin

获取全文 获取全文 获取全文

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type 由 Nishimura, Gen, Nakashima, Eiji, Hirose, Yuichiro, Cole, Trevor, Cox, Phillip, Cohn, Daniel H, Rimoin, David L, Lachman, Ralph S, Miyamoto, Yoshinari, Kerr, Bronwyn, Unger, Sheila, Ohashi, Hirofumi, Superti‐Furga, Andrea, Ikegawa, Shiro

获取全文 获取全文 获取全文

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly 由 Simonis, Nicolas, Migeotte, Isabelle, Lambert, Nelle, Perazzolo, Camille, de Silva, Deepthi C, Dimitrov, Boyan, Heinrichs, Claudine, Janssens, Sandra, Kerr, Bronwyn, Mortier, Geert, Van Vliet, Guy, Lepage, Philippe, Casimir, Georges, Abramowicz, Marc, Smits, Guillaume, Vilain, Catheline

获取全文 获取全文 获取全文

Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val 由 Burkitt-Wright, Emma MM, Bradley, Lisa, Shorto, Jennifer, McConnell, Vivienne PM, Gannon, Caroline, Firth, Helen V, Park, Soo-Mi, D'Amore, Angela, Munyard, Paul F, Turnpenny, Peter D, Charlton, Amanda, Wilson, Meredith, Kerr, Bronwyn

获取全文 获取全文 获取全文

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations 由 Madhu, Rajesh, Beaman, Glenda M., Chandler, Kate E., O'Sullivan, James, Urquhart, Jill E., Khan, Naz, Martindale, Elizabeth, Briggs, Tracy A., Clayton-Smith, Jill, Higgs, Jenny, Batra, Gauri, Kerr, Bronwyn, Woolf, Adrian S., Newman, William G.

获取全文 获取全文 获取全文

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families 由 Andreucci, Elena, Aftimos, Salim, Alcausin, Melanie, Haan, Eric, Hunter, Warwick, Kannu, Peter, Kerr, Bronwyn, McGillivray, George, Gardner, RJ McKinlay, Patricelli, Maria G, Sillence, David, Thompson, Elizabeth, Zacharin, Margaret, Zankl, Andreas, Lamandé, Shireen R, Savarirayan, Ravi

获取全文 获取全文 获取全文

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease 由 Lennon, Rachel, Stuart, Helen M., Bierzynska, Agnieszka, Randles, Michael J., Kerr, Bronwyn, Hillman, Katherine A., Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A., Koziell, Ania, Welsh, Gavin I., Saleem, Moin A., Webb, Nicholas J. A., Woolf, Adrian S.

获取全文 获取全文 获取全文

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 由 Suri, Mohnish, Evers, Jochem M. G., Laskowski, Roman A., O'Brien, Sinead, Baker, Kate, Clayton‐Smith, Jill, Dabir, Tabib, Josifova, Dragana, Joss, Shelagh, Kerr, Bronwyn, Kraus, Alison, McEntagart, Meriel, Morton, Jenny, Smith, Audrey, Splitt, Miranda, Thornton, Janet M., Wright, Caroline F.

获取全文 获取全文 获取全文

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome 由 Neumann, Thomas E, Allanson, Judith, Kavamura, Ines, Kerr, Bronwyn, Neri, Giovanni, Noonan, Jacqueline, Cordeddu, Viviana, Gibson, Kate, Tzschach, Andreas, Krüger, Gabriele, Hoeltzenbein, Maria, Goecke, Timm O, Kehl, Hans Gerd, Albrecht, Beate, Luczak, Klaudiusz, Sasiadek, Maria M, Musante, Luciana, Laurie, Rohan, Peters, Hartmut, Tartaglia, Marco, Zenker, Martin, Kalscheuer, Vera

获取全文 获取全文 获取全文

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders 由 Faundes, Víctor, Newman, William G., Bernardini, Laura, Canham, Natalie, Clayton-Smith, Jill, Dallapiccola, Bruno, Davies, Sally J., Demos, Michelle K., Goldman, Amy, Gill, Harinder, Horton, Rachel, Kerr, Bronwyn, Kumar, Dhavendra, Lehman, Anna, McKee, Shane, Morton, Jenny, Parker, Michael J., Rankin, Julia, Robertson, Lisa, Temple, I. Karen, Banka, Siddharth

获取全文 获取全文 获取全文

Costello syndrome: Clinical phenotype, genotype, and management guidelines 由 Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.

获取全文 获取全文 获取全文

Mutations in HPSE2 Cause Urofacial Syndrome 由 Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.

获取全文 获取全文

Mutations in HPSE2 Cause Urofacial Syndrome 由 Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.

获取全文 获取全文 获取全文

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline 由 Giannoulatou, Eleni, McVean, Gilean, Taylor, Indira B., McGowan, Simon J., Maher, Geoffrey J., Iqbal, Zamin, Pfeifer, Susanne P., Turner, Isaac, Burkitt Wright, Emma M. M., Shorto, Jennifer, Itani, Aysha, Turner, Karen, Gregory, Lorna, Buck, David, Rajpert-De Meyts, Ewa, Looijenga, Leendert H. J., Kerr, Bronwyn, Wilkie, Andrew O. M., Goriely, Anne

获取全文 获取全文 获取全文

Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues 由 Rauen, Katherine A., Huson, Susan M., Burkitt-Wright, Emma, Evans, D Gareth, Farschtschi, Said, Ferner, Rosalie E, Gutmann, David H., Hanemann, C Oliver, Kerr, Bronwyn, Legius, Eric, Parada, Luis F, Patton, Michael, Peltonen, Juha, Ratner, Nancy, Riccardi, Vincent M., van der Vaart, Thijs, Vikkula, Miikka, Viskochil, David H., Zenker, Martin, Upadhyaya, Meena

获取全文 获取全文 获取全文

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome 由 Clayton-Smith, Jill, O'Sullivan, James, Daly, Sarah, Bhaskar, Sanjeev, Day, Ruth, Anderson, Beverley, Voss, Anne K., Thomas, Tim, Biesecker, Leslie G., Smith, Philip, Fryer, Alan, Chandler, Kate E., Kerr, Bronwyn, Tassabehji, May, Lynch, Sally-Ann, Krajewska-Walasek, Malgorzata, McKee, Shane, Smith, Janine, Sweeney, Elizabeth, Mansour, Sahar, Mohammed, Shehla, Donnai, Dian, Black, Graeme

获取全文 获取全文 获取全文

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders 由 Smith, Michael, Alexander, Elizabeth, Marcinkute, Ruta, Dan, Dorica, Rawson, Myfanwy, Banka, Siddharth, Gavin, Jason, Mina, Hany, Hennessy, Con, Riccardi, Florence, Radio, Francesca Clementina, Havlovicova, Marketa, Cassina, Matteo, Emandi, Adela Chirita, Fradin, Melanie, Gompertz, Lianne, Nordgren, Ann, Traberg, Rasa, Rossi, Massimiliano, Trimouille, Aurelién, Sowmyalakshmi, Rasika, Dallapiccola, Bruno, Renieri, Alessandra, Faivre, Laurence, Kerr, Bronwyn, Verloes, Alain, Clayton-Smith, Jill, Douzgou, Sofia

获取全文 获取全文 获取全文

The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Toward a Therapeutic Approach 由 Korf, Bruce, Ahmadian, Reza, Allanson, Judith, Aoki, Yoko, Bakker, Annette, Wright, Emma Burkitt, Denger, Brian, Elgersma, Ype, Gelb, Bruce D., Gripp, Karen W., Kerr, Bronwyn, Kontaridis, Maria, Lazaro, Conxi, Linardic, Corinne, Lozano, Reymundo, MacRae, Calum A., Messiaen, Ludwine, Mulero-Navarro, Sonia, Neel, Benjamin, Plotkin, Scott, Rauen, Katherine A., Roberts, Amy, Silva, Alcino J., Sittampalam, Sitta G., Zhang, Chao, Schoyer, Lisa

获取全文 获取全文 获取全文