Search research articles
Contact Us
Filters
Showing results (11-20 of 47) with videos related to
Page
of 5
Sort By:
Journal of Community Genetics
|
March 31, 2012
Prospective experience with contingent screening strategy for Down syndrome in Estonia
Kai Muru, Mari Sitska, Karin Asser, et al.
Molecular Genetics & Genomic Medicine
|
March 10, 2019
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene
Konstantin Ridnõi, Marek Šois, Eve Vaidla, et al.
Paediatric and Perinatal Epidemiology
|
October 21, 2006
Descriptive epidemiology of Down's syndrome in Estonia
Tiia Reimand, Katrin Ounap, Riina Zordania, et al.
Molecular Syndromology
|
September 6, 2018
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review
Maria Yakoreva, Tiina Kahre, Sander Pajusalu, et al.
European Journal of Medical Genetics
|
April 25, 2015
De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis
Sander Pajusalu, Tiia Reimand, Oivi Uibo, et al.
European Journal of Medical Genetics
|
February 14, 2012
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability
Katrin Ounap, Helen Puusepp-Benazzouz, Maire Peters, et al.
Neurology. Genetics
|
January 14, 2025
<i>TTN</i>-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant
Katrin Õunap, Tiia Reimand, Eve Õiglane-Shlik, et al.
Frontiers in Cellular and Infection Microbiology
|
January 5, 2026
Body site-specific micro- and lactobiota in genitourinary infections during pregnancy
Siiri Kõljalg, Epp Sepp, Jelena Štšepetova, et al.
Annals of the New York Academy of Sciences
|
September 18, 2009
Antibodies to neurofilaments
Ija Talja, Tiia Reimand, Oivi Uibo, et al.
Neuropediatrics
|
September 7, 2016
CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature
Stella Lilles, Inga Talvik, Klari Noormets, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 47) with videos related to
Sort By:
Page
of 5
Journal of Community Genetics
|
March 31, 2012
Prospective experience with contingent screening strategy for Down syndrome in Estonia
Kai Muru, Mari Sitska, Karin Asser, et al.
Molecular Genetics & Genomic Medicine
|
March 10, 2019
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene
Konstantin Ridnõi, Marek Šois, Eve Vaidla, et al.
Paediatric and Perinatal Epidemiology
|
October 21, 2006
Descriptive epidemiology of Down's syndrome in Estonia
Tiia Reimand, Katrin Ounap, Riina Zordania, et al.
Molecular Syndromology
|
September 6, 2018
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review
Maria Yakoreva, Tiina Kahre, Sander Pajusalu, et al.
European Journal of Medical Genetics
|
April 25, 2015
De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis
Sander Pajusalu, Tiia Reimand, Oivi Uibo, et al.
European Journal of Medical Genetics
|
February 14, 2012
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability
Katrin Ounap, Helen Puusepp-Benazzouz, Maire Peters, et al.
Neurology. Genetics
|
January 14, 2025
<i>TTN</i>-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant
Katrin Õunap, Tiia Reimand, Eve Õiglane-Shlik, et al.
Frontiers in Cellular and Infection Microbiology
|
January 5, 2026
Body site-specific micro- and lactobiota in genitourinary infections during pregnancy
Siiri Kõljalg, Epp Sepp, Jelena Štšepetova, et al.
Annals of the New York Academy of Sciences
|
September 18, 2009
Antibodies to neurofilaments
Ija Talja, Tiia Reimand, Oivi Uibo, et al.
Neuropediatrics
|
September 7, 2016
CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature
Stella Lilles, Inga Talvik, Klari Noormets, et al.
Page
of 5