Søgeresultater - Halliday, Benjamin J.

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

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Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype af 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.

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Wilms tumor in patients with osteopathia striata with cranial sclerosis af 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.

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Germline mutations and somatic inactivation of TRIM28 in Wilms tumour af 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.

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Expanding the molecular and clinical phenotypes of FUT8-CDG af Ng, Bobby G., Dastsooz, Hassan, Silawi, Mohammad, Habibzadeh, Parham, Jahan, Shima B., Fard, Mohammad A. F., Halliday, Benjamin J., Raymond, Kimiyo, Ruzhnikov, Maura R. Z., Tabatabaei, Zahra, Taghipour-Sheshdeh, Afsaneh, Brimble, Elise, Robertson, Stephen P., Faghihi, Mohammad A., Freeze, Hudson H.

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism af Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

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