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Leopard syndrome: a report of five cases from one family in two generations.
Published in:
European Journal of Pediatrics, 2014, v. 173, n. 6, p. 819, doi. 10.1007/s00431-013-2243-9
By:
- Begić, Fatima;
- Tahirović, Husref;
- Kardašević, Mediha;
- Kalev, Ingrid;
- Muru, Kai
Publication type:
Article
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.
Published in:
European Journal of Pediatrics, 2010, v. 169, n. 4, p. 469, doi. 10.1007/s00431-009-1058-1
By:
- Kalev, Ingrid;
- Muru, Kai;
- Teek, Rita;
- Zordania, Riina;
- Reimand, Tiia;
- Köbas, Kristel;
- Õunap, Katrin
Publication type:
Article
AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2157
By:
- Roht, Laura;
- Hyldebrandt, Hanne K.;
- Stormorken, Astrid T.;
- Nordgarden, Hilde;
- Sijmons, Rolf H.;
- Bos, Dennis K.;
- Riegert‐Johnson, Douglas;
- Mantia‐Macklin, Sarah;
- Ilves, Pilvi;
- Muru, Kai;
- Wojcik, Monica H.;
- Kahre, Tiina;
- Õunap, Katrin
Publication type:
Article
A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1787
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
Publication type:
Article
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26534-y
By:
- Linders, Peter T. A.;
- Gerretsen, Eveline C. F.;
- Ashikov, Angel;
- Vals, Mari-Anne;
- de Boer, Rinse;
- Revelo, Natalia H.;
- Arts, Richard;
- Baerenfaenger, Melissa;
- Zijlstra, Fokje;
- Huijben, Karin;
- Raymond, Kimiyo;
- Muru, Kai;
- Fjodorova, Olga;
- Pajusalu, Sander;
- Õunap, Katrin;
- ter Beest, Martin;
- Lefeber, Dirk;
- van den Bogaart, Geert
Publication type:
Article
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 604, doi. 10.1002/jmd2.12325
By:
- Tiivoja, Elis;
- Reinson, Karit;
- Muru, Kai;
- Rähn, Kristi;
- Muhu, Kristina;
- Mauring, Laura;
- Kahre, Tiina;
- Pajusalu, Sander;
- Õunap, Katrin
Publication type:
Article
FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.915
By:
- Muru, Kai;
- Reinson, Karit;
- Künnapas, Kadi;
- Lilleväli, Hardo;
- Nochi, Zahra;
- Mosegaard, Signe;
- Pajusalu, Sander;
- Olsen, Rikke K. J.;
- Õunap, Katrin
Publication type:
Article
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.796862
By:
- Sarv, Siiri;
- Kahre, Tiina;
- Vaidla, Eve;
- Pajusalu, Sander;
- Muru, Kai;
- Põder, Haide;
- Gross-Paju, Katrin;
- Ütt, Sandra;
- Žordania, Riina;
- Talvik, Inga;
- Õiglane-Shlik, Eve;
- Muhu, Kristina;
- Õunap, Katrin
Publication type:
Article
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.
Published in:
Molecular Syndromology, 2015, v. 6, n. 3, p. 147, doi. 10.1159/000437061
By:
- Vals, Mari-Anne;
- Kahre, Tiina;
- Mee, Pille;
- Muru, Kai;
- Kallas, Eha;
- Žilina, Olga;
- Tillmann, Vallo;
- Õunap, Katrin
Publication type:
Article

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