检索结果 - Rajab, Anna

Genetic services and testing in the Sultanate of Oman. Sultanate of Oman steps into modern genetics 由 Rajab, Anna, Al Rashdi, I., Al Salmi, Q.

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Recessive Developmental Delay, Small Stature, Microcephaly and Brain Calcifications with Locus on Chromosome 2 由 Rajab, Anna, Aldinger, Kimberly A., El-Shirbini, Hisham Ali, Dobyns, William B., Ross, M. Elizabeth

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Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome 由 Shamseldin, Hanan E., Rajab, Anna, Alhashem, Amal, Shaheen, Ranad, Al-Shidi, Tarfa, Alamro, Rana, Al Harassi, Salma, Alkuraya, Fowzan S.

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Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement 由 Thiele, Holger, Sakano, Masahiro, Kitagawa, Hiroshi, Sugahara, Kazuyuki, Rajab, Anna, Höhne, Wolfgang, Ritter, Heide, Leschik, Gundula, Nürnberg, Peter, Mundlos, Stefan

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An Autosomal Recessive Form of Spastic Cerebral Palsy (CP) with Microcephaly and Mental Retardation 由 Rajab, Anna, Yoo, Seung-Yun, Abdulgalil, Aiman, Kathiri, Salem, Ahmed, Riaz, Mochida, Ganeshwaran H., Bodell, Adria, Barkovich, A. James, Walsh, Christopher A.

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Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans 由 Courtland, Jamie L, Bradshaw, Tyler WA, Waitt, Greg, Soderblom, Erik J, Ho, Tricia, Rajab, Anna, Vancini, Ricardo, Kim, Il Hwan, Soderling, Scott H

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Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations 由 Rajab, Anna, Straub, Volker, McCann, Liza J., Seelow, Dominik, Varon, Raymonda, Barresi, Rita, Schulze, Anne, Lucke, Barbara, Lützkendorf, Susanne, Karbasiyan, Mohsen, Bachmann, Sebastian, Spuler, Simone, Schuelke, Markus

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Dosage effect of zero to three functional LBR-genes in vivo and in vitro 由 Gravemann, Sophia, Schnipper, Nele, Meyer, Hannes, Vaya, Amparo, Nowaczyk, Malgorzata JM, Rajab, Anna, Hofmann, Wolf-Karsten, Salewsky, Bastian, Tönnies, Holger, Neitzel, Heidemarie, Stassen, Hans H, Sperling, Karl, Hoffmann, Katrin

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Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures 由 Al-Maawali, Almundher, Barry, Brenda J., Rajab, Anna, El-Quessny, Malak, Seman, Ann, Coury, Stephanie Newton, Barkovich, A. James, Yang, Edward, Walsh, Christopher A., Mochida, Ganeshwaran H., Stoler, Joan M.

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High-throughput sequencing of microdissected chromosomal regions 由 Weise, Anja, Timmermann, Bernd, Grabherr, Manfred, Werber, Martin, Heyn, Patricia, Kosyakova, Nadezda, Liehr, Thomas, Neitzel, Heidemarie, Konrat, Kateryna, Bommer, Christiane, Dietrich, Carola, Rajab, Anna, Reinhardt, Richard, Mundlos, Stefan, Lindner, Tom H, Hoffmann, Katrin

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DALIA- a comprehensive resource of Disease Alleles in Arab population 由 Vatsyayan, Aastha, Sharma, Parul, Gupta, Shrey, Sandhu, Sumiti, Venu, Seetha Lakshmi, Sharma, Vandana, Badaoui, Bouabid, Azedine, Kaidi, Youssef, Serti, Rajab, Anna, Fayez, Alaaeldin, Madinur, Seema, Ranawat, Anop, Pandhare, Kavita, Ramachandran, Srinivasan, Sivasubbu, Sridhar, Scaria, Vinod

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Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome 由 Hennies, Hans Christian, Rauch, Anita, Seifert, Wenke, Schumi, Christian, Moser, Elisabeth, Al-Taji, Eva, Tariverdian, Gholamali, Chrzanowska, Krystyna H., Krajewska-Walasek, Malgorzata, Rajab, Anna, Giugliani, Roberto, Neumann, Thomas E., Eckl, Katja M., Karbasiyan, Mohsen, Reis, André, Horn, Denise

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Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit 由 Hoffmann, Katrin, Müller, Juliane S., Stricker, Sigmar, Megarbane, Andre, Rajab, Anna, Lindner, Tom H., Cohen, Monika, Chouery, Eliane, Adaimy, Lynn, Ghanem, Ismat, Delague, Valerie, Boltshauser, Eugen, Talim, Beril, Horvath, Rita, Robinson, Peter N., Lochmüller, Hanns, Hübner, Christoph, Mundlos, Stefan

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Developmental and Degenerative Features in a Complicated Spastic Paraplegia 由 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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Loss of PCLO function underlies pontocerebellar hypoplasia type III 由 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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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 由 Hennies, Hans Christian, Kornak, Uwe, Zhang, Haikuo, Egerer, Johannes, Zhang, Xin, Seifert, Wenke, Kühnisch, Jirko, Budde, Birgit, Nätebus, Marc, Brancati, Francesco, Wilcox, William R., Müller, Dietmar, Kaplan, Paige B., Rajab, Anna, Zampino, Giuseppe, Fodale, Valentina, Dallapiccola, Bruno, Newman, William, Metcalfe, Kay, Clayton-Smith, Jill, Tassabehji, May, Steinmann, Beat, Barr, Francis A., Nürnberg, Peter, Wieacker, Peter, Mundlos, Stefan

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Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination 由 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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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival 由 Coulter, Michael E., Musaev, Damir, DeGennaro, Ellen M., Zhang, Xiaochang, Henke, Katrin, James, Kiely N., Smith, Richard S., Hill, R. Sean, Partlow, Jennifer N., Muna Al-Saffar, Kamumbu, A. Stacy, Hatem, Nicole, Barkovich, A. James, Aziza, Jacqueline, Chassaing, Nicolas, Zaki, Maha S., Sultan, Tipu, Burglen, Lydie, Rajab, Anna, Al-Gazali, Lihadh, Mochida, Ganeshwaran H., Harris, Matthew P., Gleeson, Joseph G., Walsh, Christopher A.

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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus 由 Lee, Jeong Ho, Silhavy, Jennifer L., Lee, Ji Eun, Al-Gazali, Lihadh, Thomas, Sophie, Davis, Erica E., Bielas, Stephanie L., Hill, Kiley J., Iannicelli, Miriam, Brancati, Francesco, Gabriel, Stacey B., Russ, Carsten, Logan, Clare V., Sharif, Saghira Malik, Bennett, Christopher P., Abe, Masumi, Hildebrandt, Friedhelm, Diplas, Bill H., Attié-Bitach, Tania, Katsanis, Nicholas, Rajab, Anna, Koul, Roshan, Sztriha, Laszlo, Waters, Elizabeth R., Ferro-Novick, Susan, Woods, C. Geoffrey, Johnson, Colin A., Valente, Enza Maria, Zaki, Maha S., Gleeson, Joseph G.

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Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features 由 Ouyang, Qing, Nakayama, Tojo, Baytas, Ozan, Davidson, Shawn M., Yang, Chendong, Schmidt, Michael, Lizarraga, Sofia B., Mishra, Sasmita, EI-Quessny, Malak, Niaz, Saima, Gul Butt, Mirrat, Imran Murtaza, Syed, Javed, Afzal, Chaudhry, Haroon Rashid, Vaughan, Dylan J., Hill, R. Sean, Partlow, Jennifer N., Yoo, Seung-Yun, Lam, Anh-Thu N., Nasir, Ramzi, Al-Saffar, Muna, Barkovich, A. James, Schwede, Matthew, Nagpal, Shailender, Rajab, Anna, DeBerardinis, Ralph J., Housman, David E., Mochida, Ganeshwaran H., Morrow, Eric M.

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