Search Results - Reimand, Tiia
- Showing 1 - 15 results of 15
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A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene by Ridnõi, Konstantin, Šois, Marek, Vaidla, Eve, Pajusalu, Sander, Kelder, Larissa, Reimand, Tiia, Õunap, Katrin
Published 2019Text -
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Screening for celiac disease in Down’s syndrome patients revealed cases of subtotal villous atrophy without typical for celiFac disease HLA-DQ and tissue transglutaminase antibodie... by Uibo, Oivi, Teesalu, Kaupo, Metsküla, Kaja, Reimand, Tiia, Saat, Riste, Sillat, Tarvo, Reimand, Koit, Talvik, Tiina, Uibo, Raivo
Published 2006Text -
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Chromosomal scan of single sperm cells by combining fluorescence-activated cell sorting and next-generation sequencing by Tran, Quoc Ty, Jatsenko, Tatjana, Poolamets, Olev, Tšuiko, Olga, Lubenets, Dmitri, Reimand, Tiia, Punab, Margus, Peters, Maire, Salumets, Andres
Published 2018Text -
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Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience by Žilina, Olga, Teek, Rita, Tammur, Pille, Kuuse, Kati, Yakoreva, Maria, Vaidla, Eve, Mölter-Väär, Triin, Reimand, Tiia, Kurg, Ants, Õunap, Katrin
Published 2014Text -
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A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies by Ridnõi, Konstantin, Muru, Kai, Keernik, Maria, Pajusalu, Sander, Ustav, Eva‐Liina, Tammur, Pille, Mölter‐Väär, Triin, Kahre, Tiina, Šamarina, Ustina, Asser, Karin, Szirko, Ferenc, Reimand, Tiia, Õunap, Katrin
Published 2021Text -
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Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report by Zhytnik, Lidiia, Peters, Maire, Tilk, Kadi, Reimand, Tiia, Ilisson, Piret, Kahre, Tiina, Murumets, Ülle, Ehrenberg, Aivar, Ustav, Eva-Liina, Tõnisson, Neeme, Mölder, Signe, Teder, Hindrek, Krjutškov, Kaarel, Salumets, Andres
Published 2022Text -
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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency by Beck, David B., Petracovici, Ana, He, Chongsheng, Moore, Hannah W., Louie, Raymond J., Ansar, Muhammad, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Santos-Cortez, Regie Lyn P., Prijoles, Eloise J., Bend, Renee, Keren, Boris, Mignot, Cyril, Nougues, Marie-Christine, Õunap, Katrin, Reimand, Tiia, Pajusalu, Sander, Zahid, Muhammad, Saqib, Muhammad Arif Nadeem, Buratti, Julien, Seaby, Eleanor G., McWalter, Kirsty, Telegrafi, Aida, Baldridge, Dustin, Shinawi, Marwan, Leal, Suzanne M., Schaefer, G. Bradley, Stevenson, Roger E., Banka, Siddharth, Bonasio, Roberto, Fahrner, Jill A.
Published 2020Text -
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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures by Zweier, Markus, Begemann, Anaïs, McWalter, Kirsty, Cho, Megan T., Abela, Lucia, Banka, Siddharth, Behring, Bettina, Berger, Andrea, Brown, Chester W., Carneiro, Maryline, Chen, Jiani, Cooper, Gregory M., Finnila, Candice R., Guillen Sacoto, Maria J., Henderson, Alex, Hüffmeier, Ulrike, Joset, Pascal, Kerr, Bronwyn, Lesca, Gaetan, Leszinski, Gloria S., McDermott, John Henry, Meltzer, Meira R., Monaghan, Kristin G., Mostafavi, Roya, Õunap, Katrin, Plecko, Barbara, Powis, Zöe, Purcarin, Gabriela, Reimand, Tiia, Riedhammer, Korbinian M., Schreiber, John M., Sirsi, Deepa, Wierenga, Klaas J., Wojcik, Monica H., Papuc, Sorina M., Steindl, Katharina, Sticht, Heinrich, Rauch, Anita
Published 2019Text -
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics by Begemann, Anaïs, Sticht, Heinrich, Begtrup, Amber, Vitobello, Antonio, Faivre, Laurence, Banka, Siddharth, Alhaddad, Bader, Asadollahi, Reza, Becker, Jessica, Bierhals, Tatjana, Brown, Kathleen E., Bruel, Ange-Line, Brunet, Theresa, Carneiro, Maryline, Cremer, Kirsten, Day, Robert, Denommé-Pichon, Anne-Sophie, Dyment, Dave A., Engels, Hartmut, Fisher, Rachel, Goh, Elaine S., Hajianpour, M. J., Haertel, Lucia Ribeiro Machado, Hauer, Nadine, Hempel, Maja, Herget, Theresia, Johannsen, Jessika, Kraus, Cornelia, Le Guyader, Gwenaël, Lesca, Gaetan, Mau-Them, Frédéric Tran, McDermott, John Henry, McWalter, Kirsty, Meyer, Pierre, Õunap, Katrin, Popp, Bernt, Reimand, Tiia, Riedhammer, Korbinian M., Russo, Martina, Sadleir, Lynette G., Saenz, Margarita, Schiff, Manuel, Schuler, Elisabeth, Syrbe, Steffen, Van der Ven, Amelie Theresa, Verloes, Alain, Willems, Marjolaine, Zweier, Christiane, Steindl, Katharina, Zweier, Markus, Rauch, Anita
Published 2020Text