Søgeresultater - Partlow, Jennifer N.

Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort af Mellado, Cecilia, Poduri, Annapurna, Gleason, Danielle, Elhosary, Princess C, Barry, Brenda J, Partlow, Jennifer N, Chang, Bernard S, Shaw, Gary M, Barkovich, A James, Walsh, Christopher A

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Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy af Lakhani, Shenela, Doan, Ryan, Almureikhi, Mariam, Partlow, Jennifer N., Saffar, Muna Al, Elsaid, Mahmoud F., Alaaraj, Nada, Barkovich, A. James, Walsh, Christopher A., Ben-Omran, Tawfeg

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Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy af Nakayama, Tojo, Wu, Jiang, Galvin-Parton, Patricia, Weiss, Jody, Andriola, Mary R., Hill, R. Sean, Vaughan, Dylan, El-Quessny, Malak, Barry, Brenda J., Partlow, Jennifer N., Barkovich, A. James, Ling, Jiqiang, Mochida, Ganeshwaran H.

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Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication af Kodani, Andrew, Yu, Timothy W, Johnson, Jeffrey R, Jayaraman, Divya, Johnson, Tasha L, Al-Gazali, Lihadh, Sztriha, Lāszló, Partlow, Jennifer N, Kim, Hanjun, Krup, Alexis L, Dammermann, Alexander, Krogan, Nevan J, Walsh, Christopher A, Reiter, Jeremy F

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Expanding the clinical spectrum of biallelic ZNF335 variants af Stouffs, Katrien, Stergachis, Andrew B., Vanderhasselt, Tim, Dica, Alice, Janssens, Sandra, Vandervore, Laura, Gheldof, Alexander, Bodamer, Olaf, Keymolen, Kathelijn, Seneca, Sara, Liebaers, Inge, Jayaraman, Divya, Hill, Haley E., Partlow, Jennifer N., Walsh, Christopher A., Jansen, Anna C.

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Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly af Alkuraya, Fowzan S., Cai, Xuyu, Emery, Carina, Mochida, Ganeshwaran H., Al-Dosari, Mohammed S., Felie, Jillian M., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Gascon, Generoso G., Kentab, Amal, Jan, Mohammad, Shaheen, Ranad, Feng, Yuanyi, Walsh, Christopher A.

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Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly af Alkuraya, Fowzan S., Cai, Xuyu, Emery, Carina, Mochida, Ganeshwaran H., Al-Dosari, Mohammed S., Felie, Jillian M., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Gascon, Generoso G., Kentab, Amal, Jan, Mohammad, Shaheen, Ranad, Feng, Yuanyi, Walsh, Christopher A.

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Developmental and Degenerative Features in a Complicated Spastic Paraplegia af Manzini, M Chiara, Rajab, Anna, Maynard, Thomas M, Mochida, Ganeshwaran H, Tan, Wen-Hann, Nasir, Ramzi, Hill, R Sean, Gleason, Danielle, Al Saffar, Muna, Partlow, Jennifer N, Barry, Brenda J, Vernon, Mike, LaMantia, Anthony-Samuel, Walsh, Christopher A

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A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts af Mochida, Ganeshwaran H., Ganesh, Vijay S., Felie, Jillian M., Gleason, Danielle, Hill, R. Sean, Clapham, Katie Rose, Rakiec, Daniel, Tan, Wen-Hann, Akawi, Nadia, Al-Saffar, Muna, Partlow, Jennifer N., Tinschert, Sigrid, Barkovich, A. James, Ali, Bassam, Al-Gazali, Lihadh, Walsh, Christopher A.

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Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans af Hills, L. Benjamin, Masri, Amira, Konno, Kotaro, Kakegawa, Wataru, Lam, Anh-Thu N., Lim-Melia, Elizabeth, Chandy, Nandini, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Nasir, Ramzi, Stoler, Joan M., Barkovich, A. James, Watanabe, Masahiko, Yuzaki, Michisuke, Mochida, Ganeshwaran H.

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PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features af Khalil, Raida, Kenny, Connor, Hill, R. Sean, Mochida, Ganeshwaran H., Nasir, Ramzi H., Partlow, Jennifer N., Barry, Brenda J., Al-Saffar, Muna, Egan, Chloe, Stevens, Christine R., Gabriel, Stacey B., Barkovich, A. James, Ellison, Jay W., Al-Gazali, Lihadh, Walsh, Christopher A., Chahrour, Maria H.

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Ethnically Diverse Causes of Walker-Warburg Syndrome (WWS): FCMD Mutations Are a More Common Cause of WWS Outside of the Middle East af Manzini, M. Chiara, Gleason, Danielle, Chang, Bernard S., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Poduri, Annapurna, Currier, Sophie, Galvin-Parton, Patricia, Shapiro, Lawrence R., Schmidt, Karen, Davis, Jessica G., Basel-Vanagaite, Lina, Seidahmed, Mohamed Z., Salih, Mustafa A. M., Dobyns, William B., Walsh, Christopher A.

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Loss of PCLO function underlies pontocerebellar hypoplasia type III af Ahmed, Mustafa Y., Chioza, Barry A., Rajab, Anna, Schmitz-Abe, Klaus, Al-Khayat, Aisha, Al-Turki, Saeed, Baple, Emma L., Patton, Michael A., Al-Memar, Ali Y., Hurles, Matthew E., Partlow, Jennifer N., Hill, R. Sean, Evrony, Gilad D., Servattalab, Sarah, Markianos, Kyriacos, Walsh, Christopher A., Crosby, Andrew H., Mochida, Ganeshwaran H.

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CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development af Mochida, Ganeshwaran H., Ganesh, Vijay S., de Michelena, Maria I., Dias, Hugo, Atabay, Kutay D., Kathrein, Katie L., Huang, Emily, Hill, R. Sean, Felie, Jillian M., Rakiec, Daniel, Gleason, Danielle, Hill, Anthony D., Malik, Athar N., Barry, Brenda J., Partlow, Jennifer N., Tan, Wen-Hann, Glader, Laurie J., Barkovich, A. James, Dobyns, William B., Zon, Leonard I., Walsh, Christopher A.

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Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination af Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.

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Posterior neocortex-specific regulation of neuronal migration by CEP85L identifies maternal centriole dependent activation of CDK5 af Kodani, Andrew, Kenny, Connor, Lai, Abbe, Gonzalez, Dilenny M, Stronge, Edward, Sejourne, Gabrielle M, Isacco, Laura, Partlow, Jennifer N, O’Donnell, Anne, McWalter, Kirsty, Byrne, Alicia B, Barkovich, A James, Yang, Edward, Hill, R Sean, Gawlinski, Pawel, Wiszniewski, Wojciech, Cohen, Julie S, Fatemi, S Ali, Baranano, Kristin W, Sahin, Mustafa, Vossler, David G, Yuskaitis, Christopher J., Walsh, Christopher A.

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Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome af Manzini, M. Chiara, Tambunan, Dimira E., Hill, R. Sean, Yu, Tim W., Maynard, Thomas M., Heinzen, Erin L., Shianna, Kevin V., Stevens, Christine R., Partlow, Jennifer N., Barry, Brenda J., Rodriguez, Jacqueline, Gupta, Vandana A., Al-Qudah, Abdel-Karim, Eyaid, Wafaa M., Friedman, Jan M., Salih, Mustafa A., Clark, Robin, Moroni, Isabella, Mora, Marina, Beggs, Alan H., Gabriel, Stacey B., Walsh, Christopher A.

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Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures af Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N., Ville, Dorothée, Dulac, Olivier, Yu, Tim W., Lam, Anh-Thu N., Servattalab, Sarah, Rodriguez, Jacqueline, Boddaert, Nathalie, Munnich, Arnold, Colleaux, Laurence, Zon, Leonard I., Söll, Dieter, Walsh, Christopher A., Nabbout, Rima

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METTL23, a transcriptional partner of GABPA, is essential for human cognition af Reiff, Rachel E., Ali, Bassam R., Baron, Byron, Yu, Timothy W., Ben-Salem, Salma, Coulter, Michael E., Schubert, Christian R., Hill, R. Sean, Akawi, Nadia A., Al-Younes, Banan, Kaya, Namik, Evrony, Gilad D., Al-Saffar, Muna, Felie, Jillian M., Partlow, Jennifer N., Sunu, Christine M., Schembri-Wismayer, Pierre, Alkuraya, Fowzan S., Meyer, Brian F., Walsh, Christopher A., Al-Gazali, Lihadh, Mochida, Ganeshwaran H.

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Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number af Hu, Wen F., Pomp, Oz, Ben-Omran, Tawfeg, Kodani, Andrew, Henke, Katrin, Mochida, Ganeshwaran H., Yu, Timothy W., Woodworth, Mollie B., Bonnard, Carine, Raj, Grace Selva, Tan, Thong Teck, Hamamy, Hanan, Masri, Amira, Shboul, Mohammad, Al Saffar, Muna, Partlow, Jennifer N., Al-Dosari, Mohammed, Alazami, Anas, Alowain, Mohammed, Alkuraya, Fowzan S., Reiter, Jeremy F., Harris, Matthew P., Reversade, Bruno, Walsh, Christopher A.

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