Результати пошуку - Ta-Shma, Asaf

A human laterality disorder associated with a homozygous WDR16 deletion за авторством Ta-Shma, Asaf, Perles, Zeev, Yaacov, Barak, Werner, Marion, Frumkin, Ayala, Rein, Azaria JJT, Elpeleg, Orly

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Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia за авторством Abu-Libdeh, Bassam, Douiev, Liza, Amro, Sarah, Shahrour, Maher, Ta-Shma, Asaf, Miller, Chaya, Elpeleg, Orly, Saada, Ann

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A human laterality disorder caused by a homozygous deleterious mutation in MMP21 за авторством Perles, Zeev, Moon, Sungjin, Ta-Shma, Asaf, Yaacov, Barak, Francescatto, Ludmila, Edvardson, Simon, Rein, Azaria JJT, Elpeleg, Orly, Katsanis, Nicholas

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Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2 за авторством Spiegel, Ronen, Pines, Ophry, Ta-Shma, Asaf, Burak, Efrat, Shaag, Avraham, Halvardson, Jonatan, Edvardson, Shimon, Mahajna, Muhammad, Zenvirt, Shamir, Saada, Ann, Shalev, Stavit, Feuk, Lars, Elpeleg, Orly

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A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism за авторством Edvardson, Simon, Cinnamon, Yuval, Ta-Shma, Asaf, Shaag, Avraham, Yim, Yang-In, Zenvirt, Shamir, Jalas, Chaim, Lesage, Suzanne, Brice, Alexis, Taraboulos, Albert, Kaestner, Klaus H., Greene, Lois E., Elpeleg, Orly

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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome за авторством Ta-Shma, Asaf, Khan, Tahir N., Vivante, Asaf, Willer, Jason R., Matak, Pavle, Jalas, Chaim, Pode-Shakked, Ben, Salem, Yishay, Anikster, Yair, Hildebrandt, Friedhelm, Katsanis, Nicholas, Elpeleg, Orly, Davis, Erica E.

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CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia за авторством Horani, Amjad, Brody, Steven L., Ferkol, Thomas W., Shoseyov, David, Wasserman, Mollie G., Ta-shma, Asaf, Wilson, Kate S., Bayly, Philip V., Amirav, Israel, Cohen-Cymberknoh, Malena, Dutcher, Susan K., Elpeleg, Orly, Kerem, Eitan

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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility за авторством Ta-Shma, Asaf, Hjeij, Rim, Perles, Zeev, Dougherty, Gerard W., Abu Zahira, Ibrahim, Letteboer, Stef J. F., Antony, Dinu, Darwish, Alaa, Mans, Dorus A., Spittler, Sabrina, Edelbusch, Christine, Cindrić, Sandra, Nöthe-Menchen, Tabea, Olbrich, Heike, Stuhlmann, Friederike, Aprea, Isabella, Pennekamp, Petra, Loges, Niki T., Breuer, Oded, Shaag, Avraham, Rein, Azaria J. J. T., Gulec, Elif Yilmaz, Gezdirici, Alper, Abitbul, Revital, Elias, Nael, Amirav, Israel, Schmidts, Miriam, Roepman, Ronald, Elpeleg, Orly, Omran, Heymut

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Loss of ADAMTS19 causes progressive non-syndromic heart valve disease за авторством Wünnemann, Florian, Ta-Shma, Asaf, Preuss, Christoph, Leclerc, Severine, van Vliet, Patrick Piet, Oneglia, Andrea, Thibeault, Maryse, Nordquist, Emily, Lincoln, Joy, Scharfenberg, Franka, Becker-Pauly, Christoph, Hofmann, Philipp, Hoff, Kirstin, Audain, Enrique, Kramer, Hans-Heiner, Makalowski, Wojciech, Nir, Amiram, Gerety, Sebastian S., Hurles, Matthew, Comes, Johanna, Fournier, Anne, Osinska, Hanna, Robins, Jeffrey, Pucéat, Michel, Elpeleg, Orly, Hitz, Marc-Phillip, Andelfinger, Gregor, Dietz, Harry C., McCallion, Andrew S., Andelfinger, Gregor, Loeys, Bart L., Van Laer, Lut, Eriksson, Per, Mohamed, Salah A., Mertens, Luc, Franco-Cereceda, Anders, Mital, Seema

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CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module за авторством Dougherty, Gerard W., Mizuno, Katsutoshi, Nöthe-Menchen, Tabea, Ikawa, Yayoi, Boldt, Karsten, Ta-Shma, Asaf, Aprea, Isabella, Minegishi, Katsura, Pang, Yuan-Ping, Pennekamp, Petra, Loges, Niki T., Raidt, Johanna, Hjeij, Rim, Wallmeier, Julia, Mussaffi, Huda, Perles, Zeev, Elpeleg, Orly, Rabert, Franziska, Shiratori, Hidetaka, Letteboer, Stef J., Horn, Nicola, Young, Samuel, Strünker, Timo, Stumme, Friederike, Werner, Claudius, Olbrich, Heike, Takaoka, Katsuyoshi, Ide, Takahiro, Twan, Wang Kyaw, Biebach, Luisa, Große-Onnebrink, Jörg, Klinkenbusch, Judith A., Praveen, Kavita, Bracht, Diana C., Höben, Inga M., Junger, Katrin, Gützlaff, Jana, Cindrić, Sandra, Aviram, Micha, Kaiser, Thomas, Memari, Yasin, Dzeja, Petras P., Dworniczak, Bernd, Ueffing, Marius, Roepman, Ronald, Bartscherer, Kerstin, Katsanis, Nicholas, Davis, Erica E., Amirav, Israel, Hamada, Hiroshi, Omran, Heymut

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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy за авторством Lahrouchi, Najim, Postma, Alex V., Salazar, Christian M., De Laughter, Daniel M., Tjong, Fleur, Piherová, Lenka, Bowling, Forrest Z., Zimmerman, Dominic, Lodder, Elisabeth M., Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Škorić-Milosavljević, Doris, Stránecký, Viktor, Tomek, Viktor, de Knijff, Peter, de Leeuw, Rick, Robinson, Jamille Y., Burn, Sabrina C., Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M., Wolf, Barry, Kim, Katherine H., Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denommé-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C., Ten Harkel, Arend D.J., Manten, Gwendolyn T.R., Dutman, Annemiek C., Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs W.E., Herkert, Johanna C., Brown, H. Alex, Elpeleg, Orly, van den Hoff, Maurice J.B., Mulder, Barbara, Airola, Michael V., Kmoch, Stanislav, Barnett, Joey V., Clur, Sally-Ann, Frohman, Michael A., Bezzina, Connie R.

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