Sökresultat - Collins, Felicity

A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease av Best, Stephanie, Vidic, Nada, An, Kim, Collins, Felicity, White, Susan M.

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The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum av Peebles, Karen C., Tan, Isabella, Butlin, Mark, Collins, Felicity, Tofts, Louise, Avolio, Alberto P., Pacey, Verity

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14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype av Ellaway, Carolyn J, Ho, Gladys, Bettella, Elisa, Knapman, Alisa, Collins, Felicity, Hackett, Anna, McKenzie, Fiona, Darmanian, Artur, Peters, Gregory B, Fagan, Kerry, Christodoulou, John

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Early Diagnosis of Fibrodysplasia Ossificans Progressiva av Kaplan, Frederick S., Xu, Meiqi, Glaser, David L., Collins, Felicity, Connor, Michael, Kitterman, Joseph, Sillence, David, Zackai, Elaine, Ravitsky, Vardit, Zasloff, Michael, Ganguly, Arupa, Shore, Eileen M.

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Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency av Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M., Collins, Felicity, Kerstens, Michiel N., Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehul, Silink, Martin, Shackleton, Cedric H. L., Maiter, Dominique, Krone, Nils, Arlt, Wiebke

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Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency av Davids, Mariska, Menezes, Minal, Guo, Yiran, McLean, Scott D., Hakonarson, Hakon, Collins, Felicity, Worgan, Lisa, Billington, Charles J., Maric, Irina, Littlejohn, Rebecca Okashah, Adams, David R., Tifft, Cynthia J., Gahl, William A, Wolfe, Lynne A, Christodoulou, John, Malicdan, May Christine V

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Mutations in the exocyst component EXOC2 cause severe defects in human brain development av Van Bergen, Nicole J., Ahmed, Syed Mukhtar, Collins, Felicity, Cowley, Mark, Vetro, Annalisa, Dale, Russell C., Hock, Daniella H., de Caestecker, Christian, Menezes, Minal, Massey, Sean, Ho, Gladys, Pisano, Tiziana, Glover, Seana, Gusman, Jovanka, Stroud, David A., Dinger, Marcel, Guerrini, Renzo, Macara, Ian G., Christodoulou, John

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Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. av Ravenscroft, Gianina, Clayton, Joshua S, Faiz, Fathimath, Sivadorai, Padma, Milnes, Di, Cincotta, Rob, Moon, Phillip, Kamien, Ben, Edwards, Matt, Delatycki, Martin, Lamont, Phillipa J, Chan, Sophelia HS, Colley, Alison, Ma, Alan, Collins, Felicity, Hennington, Lucinda, Zhao, Teresa, McGillivray, George, Ghedia, Sondhya, Chao, Katherine, O’Donnell-Luria, Anne, Laing, Nigel G, Davis, Mark R

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations av Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel

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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome av 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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Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders av Utami, Kagistia H., Hillmer, Axel M., Aksoy, Irene, Chew, Elaine G. Y., Teo, Audrey S. M., Zhang, Zhenshui, Lee, Charlie W. H., Chen, Pauline J., Seng, Chan Chee, Ariyaratne, Pramila N., Rouam, Sigrid L., Soo, Lim Seong, Yousoof, Saira, Prokudin, Ivan, Peters, Gregory, Collins, Felicity, Wilson, Meredith, Kakakios, Alyson, Haddad, Georges, Menuet, Arnaud, Perche, Olivier, Tay, Stacey Kiat Hong, Sung, Ken W. K., Ruan, Xiaoan, Ruan, Yijun, Liu, Edison T., Briault, Sylvain, Jamieson, Robyn V., Davila, Sonia, Cacheux, Valere

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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability av Van Bergen, Nicole J, Guo, Yiran, Al-Deri, Noraldin, Lipatova, Zhanna, Stanga, Daniela, Zhao, Sarah, Murtazina, Rakhilya, Gyurkovska, Valeriya, Pehlivan, Davut, Mitani, Tadahiro, Gezdirici, Alper, Antony, Jayne, Collins, Felicity, Willis, Mary J H, Coban Akdemir, Zeynep H, Liu, Pengfei, Punetha, Jaya, Hunter, Jill V, Jhangiani, Shalini N, Fatih, Jawid M, Rosenfeld, Jill A, Posey, Jennifer E, Gibbs, Richard A, Karaca, Ender, Massey, Sean, Ranasinghe, Thisara G, Sleiman, Patrick, Troedson, Chris, Lupski, James R, Sacher, Michael, Segev, Nava, Hakonarson, Hakon, Christodoulou, John

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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency av Krone, Nils, Reisch, Nicole, Idkowiak, Jan, Dhir, Vivek, Ivison, Hannah E., Hughes, Beverly A., Rose, Ian T., O'Neil, Donna M., Vijzelaar, Raymon, Smith, Matthew J., MacDonald, Fiona, Cole, Trevor R., Adolphs, Nicolai, Barton, John S., Blair, Edward M., Braddock, Stephen R., Collins, Felicity, Cragun, Deborah L., Dattani, Mehul T., Day, Ruth, Dougan, Shelley, Feist, Miriam, Gottschalk, Michael E., Gregory, John W., Haim, Michaela, Harrison, Rachel, Haskins Olney, Ann, Hauffa, Berthold P., Hindmarsh, Peter C., Hopkin, Robert J., Jira, Petr E., Kempers, Marlies, Kerstens, Michiel N., Khalifa, Mohamed M., Köhler, Birgit, Maiter, Dominique, Nielsen, Shelly, O'Riordan, Stephen M., Roth, Christian L., Shane, Kate P., Silink, Martin, Stikkelbroeck, Nike M. M. L., Sweeney, Elizabeth, Szarras-Czapnik, Maria, Waterson, John R., Williamson, Lori, Hartmann, Michaela F., Taylor, Norman F., Wudy, Stefan A., Malunowicz, Ewa M., Shackleton, Cedric H. L., Arlt, Wiebke

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation av Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.

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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation av Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.

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