检索结果 - Reimand, Tiia

An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature 由 Õunap, Katrin, Pajusalu, Sander, Zilina, Olga, Reimand, Tiia, Žordania, Riina

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Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases 由 Ridnõi, Konstantin, Kurvinen, Elvira, Pajusalu, Sander, Reimand, Tiia, Õunap, Katrin

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Inter‐ and Intrafamilial Phenotypic Variability in Individuals with Collagen‐Related Osteogenesis Imperfecta 由 Zhytnik, Lidiia, Maasalu, Katre, Reimand, Tiia, Duy, Binh Ho, Kõks, Sulev, Märtson, Aare

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Prospective experience with contingent screening strategy for Down syndrome in Estonia 由 Muru, Kai, Sitska, Mari, Asser, Karin, Ehrenberg, Aivar, Karro, Helle, Õunap, Katrin, Reimand, Tiia

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A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene 由 Ridnõi, Konstantin, Šois, Marek, Vaidla, Eve, Pajusalu, Sander, Kelder, Larissa, Reimand, Tiia, Õunap, Katrin

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A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review 由 Yakoreva, Maria, Kahre, Tiina, Pajusalu, Sander, Ilisson, Piret, Žilina, Olga, Tillmann, Vallo, Reimand, Tiia, Õunap, Katrin

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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... 由 Uibo, Oivi, Teesalu, Kaupo, Metsküla, Kaja, Reimand, Tiia, Saat, Riste, Sillat, Tarvo, Reimand, Koit, Talvik, Tiina, Uibo, Raivo

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PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene 由 Õunap, Katrin, Muru, Kai, Õiglane-Shlik, Eve, Ilves, Pilvi, Pajusalu, Sander, Kuus, Imbi, Wojcik, Monica H., Reimand, Tiia

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Chromosomal scan of single sperm cells by combining fluorescence-activated cell sorting and next-generation sequencing 由 Tran, Quoc Ty, Jatsenko, Tatjana, Poolamets, Olev, Tšuiko, Olga, Lubenets, Dmitri, Reimand, Tiia, Punab, Margus, Peters, Maire, Salumets, Andres

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Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience 由 Žilina, Olga, Teek, Rita, Tammur, Pille, Kuuse, Kati, Yakoreva, Maria, Vaidla, Eve, Mölter-Väär, Triin, Reimand, Tiia, Kurg, Ants, Õunap, Katrin

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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 由 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

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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 由 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

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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency 由 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.

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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures 由 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

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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 由 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

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