نتائج البحث - Hurst, Jane A. 

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure حسب Bendon, Charlotte L, Fenwick, Aimée L, Hurst, Jane A, Nürnberg, Gudrun, Nürnberg, Peter, Wall, Steven A, Wilkie, Andrew OM, Johnson, David

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Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay حسب Jenkins, Dagan, Baynam, Gareth, De Catte, Luc, Elcioglu, Nursel, Gabbett, Michael T, Hudgins, Louanne, Hurst, Jane A, Jehee, Fernanda Sarquis, Oley, Christine, Wilkie, Andrew O M

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Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3 حسب Hurst, Jane A, Jenkins, Dagan, Vasudevan, Pradeep C, Kirchhoff, Maria, Skovby, Flemming, Rieubland, Claudine, Gallati, Sabina, Rittinger, Olaf, Kroisel, Peter M, Johnson, David, Biesecker, Leslie G, Wilkie, Andrew OM

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Prevalence and complications of single gene and chromosomal disorders in craniosynostosis حسب Wilkie, Andrew O.M., Byren, Jo C., Hurst, Jane A., Jayamohan, Jayaratnam, Johnson, David, Knight, Samantha J. L., Lester, Tracy, Richards, Peter G., Twigg, Stephen R. F., Wall, Steven A.

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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature حسب Klaassens, Merel, Morrogh, Deborah, Rosser, Elisabeth M, Jaffer, Fatima, Vreeburg, Maaike, Bok, Levinus A, Segboer, Tim, van Belzen, Martine, Quinlivan, Ros M, Kumar, Ajith, Hurst, Jane A, Scott, Richard H

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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis حسب Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H

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The SPCH1 Region on Human 7q31: Genomic Characterization of the Critical Interval and Localization of Translocations Associated with Speech and Language Disorder حسب Lai, Cecilia S. L., Fisher, Simon E., Hurst, Jane A., Levy, Elaine R., Hodgson, Shirley, Fox, Margaret, Jeremiah, Stephen, Povey, Susan, Jamison, D. Curtis, Green, Eric D., Vargha-Khadem, Faraneh, Monaco, Anthony P.

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Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era حسب Forny, Patrick, Footitt, Emma, Davison, James E., Lam, Amanda, Woodward, Cathy E., Batzios, Spyros, Bhate, Sanjay, Chakrapani, Anupam, Cleary, Maureen, Gissen, Paul, Grunewald, Stephanie, Hurst, Jane A., Scott, Richard, Heales, Simon, Jacques, Thomas S., Cullup, Thomas, Rahman, Shamima

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Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children حسب Mestek-Boukhibar, Lamia, Clement, Emma, Jones, Wendy D, Drury, Suzanne, Ocaka, Louise, Gagunashvili, Andrey, Le Quesne Stabej, Polona, Bacchelli, Chiara, Jani, Nital, Rahman, Shamima, Jenkins, Lucy, Hurst, Jane A, Bitner-Glindzicz, Maria, Peters, Mark, Beales, Philip L, Williams, Hywel J

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Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene حسب Twigg, Stephen R.F., Versnel, Sarah L., Nürnberg, Gudrun, Lees, Melissa M., Bhat, Meenakshi, Hammond, Peter, Hennekam, Raoul C.M., Hoogeboom, A. Jeannette M., Hurst, Jane A., Johnson, David, Robinson, Alexis A., Scambler, Peter J., Gerrelli, Dianne, Nürnberg, Peter, Mathijssen, Irene M.J., Wilkie, Andrew O.M.

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Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems حسب Brooks, Alice S. , Bertoli-Avella, Aida M. , Burzynski, Grzegorz M. , Breedveld, Guido J. , Osinga, Jan , Boven, Ludolf G. , Hurst, Jane A. , Mancini, Grazia M. S. , Lequin, Maarten H. , de Coo, Rene F. , Matera, Ivana , de Graaff, Esther , Meijers, Carel , Willems, Patrick J. , Tibboel, Dick , Oostra, Ben A. , Hofstra, Robert M. W. 

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Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders حسب Evers, Jochem M.G., Laskowski, Roman A., Bertolli, Marta, Clayton-Smith, Jill, Deshpande, Charu, Eason, Jacqueline, Elmslie, Frances, Flinter, Frances, Gardiner, Carol, Hurst, Jane A., Kingston, Helen, Kini, Usha, Lampe, Anne K., Lim, Derek, Male, Alison, Naik, Swati, Parker, Michael J., Price, Sue, Robert, Leema, Sarkar, Ajoy, Straub, Volker, Woods, Geoff, Thornton, Janet M., Wright, Caroline F.

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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription حسب Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.

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Delineation of the movement disorders associated with FOXG1 mutations حسب Papandreou, Apostolos, Schneider, Ruth B., Augustine, Erika F., Ng, Joanne, Mankad, Kshitij, Meyer, Esther, McTague, Amy, Ngoh, Adeline, Hemingway, Cheryl, Robinson, Robert, Varadkar, Sophia M., Kinali, Maria, Salpietro, Vincenzo, O'Driscoll, Margaret C., Basheer, S. Nigel, Webster, Richard I., Mohammad, Shekeeb S., Pula, Shpresa, McGowan, Marian, Trump, Natalie, Jenkins, Lucy, Elmslie, Frances, Scott, Richard H., Hurst, Jane A., Perez-Duenas, Belen, Paciorkowski, Alexander R., Kurian, Manju A.

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Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia حسب Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A

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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome حسب Alharatani, Reham, Ververi, Athina, Beleza-Meireles, Ana, Ji, Weizhen, Mis, Emily, Patterson, Quinten T, Griffin, John N, Bhujel, Nabina, Chang, Caitlin A, Dixit, Abhijit, Konstantino, Monica, Healy, Christopher, Hannan, Sumayyah, Neo, Natsuko, Cash, Alex, Li, Dong, Bhoj, Elizabeth, Zackai, Elaine H, Cleaver, Ruth, Baralle, Diana, McEntagart, Meriel, Newbury-Ecob, Ruth, Scott, Richard, Hurst, Jane A, Au, Ping Yee Billie, Hosey, Marie Therese, Khokha, Mustafa, Marciano, Denise K, Lakhani, Saquib A, Liu, Karen J

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Diagnostic value of exome and whole genome sequencing in craniosynostosis حسب Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M

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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder حسب Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.

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Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency حسب Cottineau, Julien, Kottemann, Molly C., Lach, Francis P., Kang, Young-Hoon, Vély, Frédéric, Deenick, Elissa K., Lazarov, Tomi, Gineau, Laure, Wang, Yi, Farina, Andrea, Chansel, Marie, Lorenzo, Lazaro, Piperoglou, Christelle, Ma, Cindy S., Nitschke, Patrick, Belkadi, Aziz, Itan, Yuval, Boisson, Bertrand, Jabot-Hanin, Fabienne, Picard, Capucine, Bustamante, Jacinta, Eidenschenk, Céline, Boucherit, Soraya, Aladjidi, Nathalie, Lacombe, Didier, Barat, Pascal, Qasim, Waseem, Hurst, Jane A., Pollard, Andrew J., Uhlig, Holm H., Fieschi, Claire, Michon, Jean, Bermudez, Vladimir P., Abel, Laurent, de Villartay, Jean-Pierre, Geissmann, Frédéric, Tangye, Stuart G., Hurwitz, Jerard, Vivier, Eric, Casanova, Jean-Laurent, Smogorzewska, Agata, Jouanguy, Emmanuelle

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Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly... حسب Tarpey, Patrick S. , Raymond, F. Lucy , O’Meara, Sarah , Edkins, Sarah , Teague, Jon , Butler, Adam , Dicks, Ed , Stevens, Claire , Tofts, Calli , Avis, Tim , Barthorpe, Syd , Buck, Gemma , Cole, Jennifer , Gray, Kristian , Halliday, Kelly , Harrison, Rachel , Hills, Katy , Jenkinson, Andrew , Jones, David , Menzies, Andrew , Mironenko, Tatiana , Perry, Janet , Raine, Keiran , Richardson, David , Shepherd, Rebecca , Small, Alexandra , Varian, Jennifer , West, Sofie , Widaa, Sara , Mallya, Uma , Moon, Jenny , Luo, Ying , Holder, Susan , Smithson, Sarah F. , Hurst, Jane A. , Clayton-Smith, Jill , Kerr, Bronwyn , Boyle, Jackie , Shaw, Marie , Vandeleur, Lucianne , Rodriguez, Jayson , Slaugh, Rachel , Easton, Douglas F. , Wooster, Richard , Bobrow, Martin , Srivastava, Anand K. , Stevenson, Roger E. , Schwartz, Charles E. , Turner, Gillian , Gecz, Jozef , Futreal, P. Andrew , Stratton, Michael R. , Partington, Michael 

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