Результати пошуку - Slaugh, Rachel 

PTPN4 germline variants result in aberrant neurodevelopment and growth за авторством Chmielewska, Joanna J., Burkardt, Deepika, Granadillo, Jorge Luis, Slaugh, Rachel, Morgan, Shamile, Rotenberg, Joshua, Keren, Boris, Mignot, Cyril, Escobar, Luis, Turnpenny, Peter, Zuteck, Melissa, Seaver, Laurie H., Ploski, Rafal, Dziembowska, Magdalena, Wynshaw-Boris, Anthony, Adegbola, Abidemi

Отримати повний текст Отримати повний текст Отримати повний текст

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy за авторством Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N., Clark, Karl J., Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E., Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H., Klee, Eric W., Engleman, Kendra, Safina, Nicole P., Slaugh, Rachel, Bryant, Emily M., Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N., Schaefer, G. Bradley, Towner, Shelley, Brilstra, Eva H., Koeleman, Bobby P. C.

Отримати повний текст Отримати повний текст Отримати повний текст

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly... за авторством 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 

Отримати повний текст Отримати повний текст

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations за авторством Rodan, Lance H., Spillmann, Rebecca C., Kurata, Harley T., Lamothe, Shawn M., Maghera, Jasmine, Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Atallah, Isis, Bar-Yosef, Omer, Bilan, Frédéric, Bjorgo, Kathrine, Blanc, Xavier, Van Bogaert, Patrick, Bolkier, Yoav, Burrage, Lindsay C., Christ, Björn U., Granadillo, Jorge L., Dickson, Patricia, Donald, Kirsten A., Dubourg, Christèle, Eliyahu, Aviva, Emrick, Lisa, Engleman, Kendra, Gonfiantini, Michaela Veronika, Good, Jean-Marc, Kalser, Judith, Kloeckner, Chiara, Lachmeijer, Guus, Macchiaiolo, Marina, Nicita, Francesco, Odent, Sylvie, O’Heir, Emily, Ortiz-Gonzalez, Xilma, Pacio-Miguez, Marta, Palomares-Bralo, María, Pena, Loren, Platzer, Konrad, Quinodoz, Mathieu, Ranza, Emmanuelle, Rosenfeld, Jill A., Roulet-Perez, Eliane, Santani, Avni, Santos-Simarro, Fernando, Pode-Shakked, Ben, Skraban, Cara, Slaugh, Rachel, Superti-Furga, Andrea, Thiffault, Isabelle, van Jaabrsveld, Richard H., Vincent, Marie, Wang, Hong-Gang, Zacher, Pia, Rush, Eric, Pitt, Geoffrey, Au, Ping Yee Billie, Shashi, Vandana

Отримати повний текст Отримати повний текст Отримати повний текст