תוצאות חיפוש - Rohena, Luis

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding מאת Fischer, Julie, Rohena, Luis

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Rare case of live born with confirmed mosaic trisomy 17 and review of the literature מאת Baltensperger, Austin, Haischer, Gayle, Rohena, Luis

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Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia מאת Donahue, Megan L., Rohena, Luis O.

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Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement מאת Banta, Jonathan, Beasley, Knox, Kobayashi, Todd, Rohena, Luis

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Case report: Novel phenotype in central 22q11.2 deletion syndrome מאת Dideum, Patrick, Rohena, Luis, Berg, Janet, Percival, Candace

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Tetraploid–diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature מאת Schacht, John Paul, Farnworth, Elisha, Hogue, Jacob, Rohena, Luis

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Youngest presenting patient with dystonia 24 and review of the literature מאת Nelin, Sarah, Hussey, Richard, Faux, Brian M., Rohena, Luis

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A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance מאת Elward, Cameron, Berg, Janet, Oberlin, John M., Rohena, Luis

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Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis מאת Antoine, Maya, Reeves, Patrick T, Rohena, Luis, Jones, Olcay, Faux, Brian

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Tuberous sclerosis complex: Five new things מאת Hsieh, David T., Whiteway, Susan L., Rohena, Luis O., Thiele, Elizabeth A.

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Unexpected Finding of Idiopathic REM Sleep Behavior Disorder in a Young Healthy Male With Snoring: A Case Report מאת Brock, Matthew S., Shirley, Sean, Rohena, Luis, Moore, Brian A., Mysliwiec, Vincent

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Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability מאת Rohena, Luis, Neidich, Julie, Truitt Cho, Megan, Gonzalez, Kelly DF, Tang, Sha, Devinsky, Orrin, Chung, Wendy K

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Lisch nodules and iris mammillations in two siblings with familial legius syndrome מאת Bixel, Kaitlyn D., Cano, Miguel J., Johnson, Damon M., Gomez, Benjamin, Lobsinger, Laura V., Valentin, Frank E., Hsieh, David T., Rohena, Luis O.

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NK cell defects in X-linked pigmentary reticulate disorder מאת Starokadomskyy, Petro, Wilton, Katelynn M., Krzewski, Konrad, Lopez, Adam, Sifuentes-Dominguez, Luis, Overlee, Brittany, Chen, Qing, Ray, Ann, Gil-Krzewska, Aleksandra, Peterson, Mary, Kinch, Lisa N., Rohena, Luis, Grunebaum, Eyal, Zinn, Andrew R., Grishin, Nick V., Billadeau, Daniel D., Burstein, Ezra

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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism מאת Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M., Newbury-Ecob, Ruth A., Challis, Rachel C., Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J., O’Driscoll, Mark

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Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth מאת DeStefano, Gina M., Kurban, Mazen, Anyane-Yeboa, Kwame, Dall'Armi, Claudia, Di Paolo, Gilbert, Feenstra, Heather, Silverberg, Nanette, Rohena, Luis, López-Cepeda, Larissa D., Jobanputra, Vaidehi, Fantauzzo, Katherine A., Kiuru, Maija, Tadin-Strapps, Marija, Sobrino, Antonio, Vitebsky, Anna, Warburton, Dorothy, Levy, Brynn, Salas-Alanis, Julio C., Christiano, Angela M.

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Defining the clinical phenotype of Saul-Wilson syndrome. מאת Ferreira, Carlos R., Zein, Wadih M., Huryn, Laryssa A., Merker, Andrea, Berger, Seth I., Wilson, William G., Tiller, George E., Wolfe, Lynne A., Merideth, Melissa, Carvalho, Daniel R., Duker, Angela L., Bratke, Heiko, Haug, Marte Gjøl, Rohena, Luis, Hove, Hanne B., Xia, Zhi-Jie, Ng, Bobby G., Freeze, Hudson H., Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Earl, Dawn L., Tham, Emma, Nishimura, Gen, Phillips, John A., Gahl, William A., Hamid, Rizwan, Jackson, Andrew P., Grigelioniene, Giedre, Bober, Michael B.

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Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy מאת Carvill, Gemma L., Helbig, Katherine L., Myers, Candace T., Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N., Guida, Brandon S., Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A., Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O., Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G, Caruso, Paul A., Lin, Angela E., Jansen, Floor E., Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H., Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie-Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E., Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla-Lopez, Sergio, Mefford, Heather C., Kruer, Michael C.

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation מאת Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.

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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder מאת Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark

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