תוצאות חיפוש - Friedman, Jennifer R

An unusual presentation of posterior fossa ependymoma in a child מאת Crawford, John Ross, Newbury, Robert O, Friedman, Jennifer R

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ADCY5-Related Dyskinesia: Comments on Characteristic Manifestations and Variant-Associated Severity מאת Raskind, Wendy H., Friedman, Jennifer R., Roze, Emmanuel, Méneret, Aurélie, Chen, Dong-Hui, Bird, Thomas D.

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Rapid diagnosis of KCNQ2 associated early infantile epileptic encephalopathy improved outcome מאת Chen, Dillon Y, Chowdhury, Shimul, Farnaes, Lauge, Friedman, Jennifer R., Honold, Jose, Dimmock, David P., Gold, Jeffrey J.

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Low CSF 5-HIAA in Myoclonus Dystonia מאת Peall, Kathryn J, Ng, Joanne, Dy, Marisela E, Sharma, Nutan, Pope, Simon, Heales, Simon, Friedman, Jennifer R., Kurian, Manju A

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De Novo KCNB1 Mutations in Epileptic Encephalopathy מאת Torkamani, Ali, Bersell, Kevin, Jorge, Benjamin S., Bjork, Robert L., Friedman, Jennifer R., Bloss, Cinnamon S., Cohen, Julie, Gupta, Siddharth, Naidu, Sakkubai, Vanoye, Carlos G., George, Alfred L., Kearney, Jennifer A.

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A Genome Sequencing Program for Novel Undiagnosed Diseases מאת Bloss, Cinnamon S., Scott-Van Zeeland, Ashley A., Topol, Sarah E., Darst, Burcu F., Boeldt, Debra L., Erikson, Galina A., Bethel, Kelly J., Bjork, Robert L., Friedman, Jennifer R., Hwynn, Nelson, Patay, Bradley A., Pockros, Paul J., Scott, Erick R., Simon, Ronald A., Williams, Gary W., Schork, Nicholas J., Topol, Eric J., Torkamani, Ali

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Gain-of-Function ADCY5 Mutations in Familial Dyskinesia with Facial Myokymia מאת Chen, Ying-Zhang, Friedman, Jennifer R., Chen, Dong-Hui, Chan, Guy C.-K., Bloss, Cinnamon S., Hisama, Fuki M., Topol, Sarah E., Carson, Andrew R., Pham, Phillip H., Bonkowski, Emily S., Scott, Erick R., Lee, Janel K., Zhang, Guangfa, Oliveira, Glenn, Xu, Jian, Zeeland, Ashley A. Scott-Van, Chen, Qi, Levy, Samuel, Topol, Eric J., Storm, Daniel, Swanson, Phillip D., Bird, Thomas D., Schork, Nicholas J., Raskind, Wendy H., Torkamani, Ali

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Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5 מאת Rajan, Deepa S., Kour, Sukhleen, Fortuna, Tyler R., Cousin, Margot A., Barnett, Sarah S., Niu, Zhiyv, Babovic-Vuksanovic, Dusica, Klee, Eric W., Kirmse, Brian, Innes, Micheil, Rydning, Siri Lynne, Selmer, Kaja K., Vigeland, Magnus Dehli, Erichsen, Anne Kjersti, Nemeth, Andrea H., Millan, Francisca, DeVile, Catherine, Fawcett, Katherine, Legendre, Adrien, Sims, David, Schnekenberg, Ricardo Parolin, Burglen, Lydie, Mercier, Sandra, Bakhtiari, Somayeh, Francisco-Velilla, Rosario, Embarc-Buh, Azman, Martinez-Salas, Encarnacion, Wigby, Kristen, Lenberg, Jerica, Friedman, Jennifer R., Kruer, Michael C., Pandey, Udai Bhan

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Toward clinical genomics in everyday medicine: perspectives and recommendations מאת Delaney, Susan K., Hultner, Michael L., Jacob, Howard J., Ledbetter, David H., McCarthy, Jeanette J., Ball, Michael, Beckman, Kenneth B., Belmont, John W., Bloss, Cinnamon S., Christman, Michael F., Cosgrove, Andy, Damiani, Stephen A., Danis, Timothy, Delledonne, Massimo, Dougherty, Michael J., Dudley, Joel T., Faucett, W. Andrew, Friedman, Jennifer R., Haase, David H., Hays, Tom S., Heilsberg, Stu, Huber, Jeff, Kaminsky, Leah, Ledbetter, Nikki, Lee, Warren H., Levin, Elissa, Libiger, Ondrej, Linderman, Michael, Love, Richard L., Magnus, David C., Martland, AnneMarie, McClure, Susan L., Megill, Scott E., Messier, Helen, Nussbaum, Robert L., Palaniappan, Latha, Patay, Bradley A., Popovich, Bradley W., Quackenbush, John, Savant, Mark J., Su, Michael M., Terry, Sharon F., Tucker, Steven, Wong, William T., Green, Robert C.

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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant מאת Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert BA

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