Suchergebnisse - Markie, David

Analysis of the DISC1 translocation partner (11q14.3) in genetic risk of schizophrenia von Debono, Rebecca, Topless, Ruth, Markie, David, Black, Michael A, Merriman, Tony R

Volltext Volltext Volltext

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome von Fukushima, Kaya, Parthasarathy, Padmini, Wade, Emma M., Morgan, Tim, Gowrishankar, Kalpana, Markie, David M., Robertson, Stephen P.

Volltext Volltext Volltext

Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family von Cameron-Christie, Sophia R., Wilde, Justin, Gray, Andrew, Tankard, Rick, Bahlo, Melanie, Markie, David, Evans, Helen M., Robertson, Stephen P.

Volltext Volltext Volltext

Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy von Vincent, Andrea L., Markie, David M., De Karolyi, Betina, Wheeldon, Catherine E., Patel, Dipika V., Grupcheva, Christina N., McGhee, Charles N.J.

Volltext Volltext

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis von Mi, Jingyi, Parthasarathy, Padmini, Halliday, Benjamin J., Morgan, Tim, Dean, John, Nowaczyk, Malgorzata J. M., Markie, David, Robertson, Stephen P., Wade, Emma M.

Volltext Volltext Volltext

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex von O’Neill, Adam C., Kyrousi, Christina, Einsiedler, Melanie, Burtscher, Ingo, Drukker, Micha, Markie, David M., Kirk, Edwin P., Götz, Magdalena, Robertson, Stephen P., Cappello, Silvia

Volltext Volltext Volltext

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype von Driver, Sean G. W., Jackson, Meremaihi R., Richter, Konrad, Tomlinson, Paul, Brockway, Ben, Halliday, Benjamin J., Markie, David M., Robertson, Stephen P., Wade, Emma M.

Volltext Volltext Volltext

Wilms tumor in patients with osteopathia striata with cranial sclerosis von Bach, Alicia, Mi, Jingyi, Hunter, Matthew, Halliday, Benjamin J., García-Miñaúr, Sixto, Sperotto, Francesca, Trevisson, Eva, Markie, David, Morison, Ian M., Shinawi, Marwan, Willis, Daniel N., Robertson, Stephen P.

Volltext Volltext Volltext

Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome von Bunn, Kieran J., Daniel, Phil, Rösken, Heleen S., O’Neill, Adam C., Cameron-Christie, Sophia R., Morgan, Tim, Brunner, Han G., Lai, Angeline, Kunst, Henricus P.M., Markie, David M., Robertson, Stephen P.

Volltext Volltext Volltext

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour von Halliday, Benjamin J., Fukuzawa, Ryuji, Markie, David M., Grundy, Richard G., Ludgate, Jackie L., Black, Michael A., Skeen, Jane E., Weeks, Robert J., Catchpoole, Daniel R., Roberts, Aedan G. K., Reeve, Anthony E., Morison, Ian M.

Volltext Volltext Volltext

Tuberous sclerosis complex: a complex case von Powell, Ryan M., Pattison, Sharon, Moravec, Jiri C., Bhat, Basharat, Guirguis, Nada, Markie, David, Jones, Greg T., Copedo, Jason, Print, Cristin G., Morison, Ian M., Gavryushkin, Alex, Gray, Bronwyn, Wyeth, Lisa J., Eccles, Mike R., Macaulay, Erin C.

Volltext Volltext Volltext

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 von Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludkig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.

Volltext Volltext Volltext

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 von Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.

Volltext Volltext Volltext

Mutations in the netrin-1 gene cause congenital mirror movements von Méneret, Aurélie, Franz, Elizabeth A., Trouillard, Oriane, Oliver, Thomas C., Zagar, Yvrick, Robertson, Stephen P., Welniarz, Quentin, Gardner, R.J. MacKinlay, Gallea, Cécile, Srour, Myriam, Depienne, Christel, Jasoni, Christine L., Dubacq, Caroline, Riant, Florence, Lamy, Jean-Charles, Morel, Marie-Pierre, Guérois, Raphael, Andreani, Jessica, Fouquet, Coralie, Doulazmi, Mohamed, Vidailhet, Marie, Rouleau, Guy A., Brice, Alexis, Chédotal, Alain, Dusart, Isabelle, Roze, Emmanuel, Markie, David

Volltext Volltext Volltext

Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes von Zhou, Xiao-Ping, Woodford-Richens, Kelly, Lehtonen, Rainer, Kurose, Keisuke, Aldred, Micheala, Hampel, Heather, Launonen, Virpi, Virta, Sanno, Pilarski, Robert, Salovaara, Reijo, Bodmer, Walter F., Conrad, Beth A., Dunlop, Malcolm, Hodgson, Shirley V., Iwama, Takeo, Järvinen, Heikki, Kellokumpu, Ilmo, Kim, J. C., Leggett, Barbara, Markie, David, Mecklin, Jukka-Pekka, Neale, Kay, Phillips, Robin, Piris, Juan, Rozen, Paul, Houlston, Richard S., Aaltonen, Lauri A., Tomlinson, Ian P. M., Eng, Charis

Volltext Volltext

Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus von Gowans, Lord J.J., Cameron-Christie, Sophia, Slayton, Rebecca L., Busch, Tamara, Romero-Bustillos, Miguel, Eliason, Steven, Sweat, Mason, Sobreira, Nara, Yu, Wenjie, Kantaputra, Piranit N., Wohler, Elizabeth, Adeyemo, Wasiu Lanre, Lachke, Salil A., Anand, Deepti, Campbell, Collen, Drummond, Bernadette K., Markie, David M., van Vuuren, W. Jansen, van Vuuren, L. Jansen, Casamassimo, Paul S., Ettinger, Ronald, Owais, Arwa, van Staden, I., Amendt, Brad A., Adeyemo, Adebowale A., Murray, Jeffrey C., Robertson, Stephen P., Butali, Azeez

Volltext Volltext Volltext

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia von Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.

Volltext Volltext Volltext

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome von Di Gioia, Silvio Alessandro, Connors, Samantha, Matsunami, Norisada, Cannavino, Jessica, Rose, Matthew F., Gilette, Nicole M., Artoni, Pietro, de Macena Sobreira, Nara Lygia, Chan, Wai-Man, Webb, Bryn D., Robson, Caroline D., Cheng, Long, Van Ryzin, Carol, Ramirez-Martinez, Andres, Mohassel, Payam, Leppert, Mark, Scholand, Mary Beth, Grunseich, Christopher, Ferreira, Carlos R., Hartman, Tyler, Hayes, Ian M., Morgan, Tim, Markie, David M., Fagiolini, Michela, Swift, Amy, Chines, Peter S., Speck-Martins, Carlos E., Collins, Francis S., Jabs, Ethylin Wang, Bönnemann, Carsten G., Olson, Eric N., Carey, John C., Robertson, Stephen P., Manoli, Irini, Engle, Elizabeth C.

Volltext Volltext Volltext

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features von Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.

Volltext Volltext Volltext