Søgeresultater - Servattalab, Sarah

Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye af Servattalab, Sarah, Yildiz, Ozge, Khanna, Hemant

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Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder af Schmitz-Abe, Klaus, Sanchez-Schmitz, Guzman, Doan, Ryan N., Hill, R. Sean, Chahrour, Maria H., Mehta, Bhaven K., Servattalab, Sarah, Ataman, Bulent, Lam, Anh-Thu N., Morrow, Eric M., Greenberg, Michael E., Yu, Timothy W., Walsh, Christopher A., Markianos, Kyriacos

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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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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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Socioeconomic and Racial and/or Ethnic Disparities in Multisystem Inflammatory Syndrome af Javalkar, Karina, Robson, Victoria K., Gaffney, Lukas, Bohling, Amy M., Arya, Puneeta, Servattalab, Sarah, Roberts, Jordan E., Campbell, Jeffrey I., Sekhavat, Sepehr, Newburger, Jane W., de Ferranti, Sarah D., Baker, Annette L., Lee, Pui Y., Day-Lewis, Megan, Bucholz, Emily, Kobayashi, Ryan, Son, Mary Beth, Henderson, Lauren A., Kheir, John N., Friedman, Kevin G., Dionne, Audrey

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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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Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome af Jamuar, Saumya S., Schmitz-Abe, Klaus, D’Gama, Alissa M., Drottar, Marie, Chan, Wai-Man, Peeva, Maya, Servattalab, Sarah, Lam, Anh-Thu N., Delgado, Mauricio R., Clegg, Nancy J., Al Zayed, Zayed, Dogar, Mohammad Asif, Alorainy, Ibrahim A., Jamea, Abdullah Abu, Abu-Amero, Khaled, Griebel, May, Ward, Wendy, Lein, Ed S., Markianos, Kyriacos, Barkovich, A. James, Robson, Caroline D., Grant, P. Ellen, Bosley, Thomas M., Engle, Elizabeth C., Walsh, Christopher A., Yu, Timothy W.

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Somatic Mutations in Cerebral Cortical Malformations af Jamuar, Saumya S., Lam, Anh-Thu N., Kircher, Martin, D'Gama, Alissa M., Wang, Jian, Barry, Brenda J., Zhang, Xiaochang, Hill, Robert Sean, Partlow, Jennifer N., Rozzo, Aldo, Servattalab, Sarah, Mehta, Bhaven K., Topcu, Meral, Amrom, Dina, Andermann, Eva, Dan, Bernard, Parrini, Elena, Guerrini, Renzo, Scheffer, Ingrid E., Berkovic, Samuel F., Leventer, Richard J., Shen, Yiping, Wu, Bai Lin, Barkovich, A. James, Sahin, Mustafa, Chang, Bernard S., Bamshad, Michael, Nickerson, Deborah A., Shendure, Jay, Poduri, Annapurna, Yu, Timothy W., Walsh, Christopher A.

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