Resultados de procura - Halliday, Benjamin J.

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Expanding the molecular and clinical phenotypes of FUT8-CDG por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso