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Prenatal Diagnosis
|
October 16, 2010
Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays
Eneli Oitmaa, Maire Peters, Kadri Vaidla, et al.
Journal of Child Neurology
|
December 20, 2013
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders
Ulvi Vaher, Margit Nõukas, Tiit Nikopensius, et al.
Journal of Child Neurology
|
June 5, 2018
Incidence of Childhood Epilepsy in Estonia
Kadi Veri, Inga Talvik, Ulvi Vaher, et al.
American Journal of Medical Genetics. Part A
|
June 3, 2016
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy
Karit Reinson, Eve Õiglane-Shlik, Inga Talvik, et al.
BMC Pregnancy and Childbirth
|
February 6, 2022
Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report
Lidiia Zhytnik, Maire Peters, Kadi Tilk, et al.
Prenatal Diagnosis
|
November 7, 2019
Olga Žilina, Kadri Rekker, Lauris Kaplinski, et al.
Neuromuscular Disorders : NMD
|
January 20, 2016
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion
Sander Pajusalu, Inga Talvik, Klari Noormets, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2023
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy
Kaisa Teele Oja, Mihkel Ilisson, Karit Reinson, et al.
Frontiers in Neurology
|
December 17, 2025
Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts
Kaisa T Oja, Mihkel Ilisson, Karit Reinson, et al.
Clinical Genetics
|
February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile
Dmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 47) with videos related to
Sort By:
Page
of 5
Prenatal Diagnosis
|
October 16, 2010
Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays
Eneli Oitmaa, Maire Peters, Kadri Vaidla, et al.
Journal of Child Neurology
|
December 20, 2013
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders
Ulvi Vaher, Margit Nõukas, Tiit Nikopensius, et al.
Journal of Child Neurology
|
June 5, 2018
Incidence of Childhood Epilepsy in Estonia
Kadi Veri, Inga Talvik, Ulvi Vaher, et al.
American Journal of Medical Genetics. Part A
|
June 3, 2016
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy
Karit Reinson, Eve Õiglane-Shlik, Inga Talvik, et al.
BMC Pregnancy and Childbirth
|
February 6, 2022
Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report
Lidiia Zhytnik, Maire Peters, Kadi Tilk, et al.
Prenatal Diagnosis
|
November 7, 2019
Olga Žilina, Kadri Rekker, Lauris Kaplinski, et al.
Neuromuscular Disorders : NMD
|
January 20, 2016
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion
Sander Pajusalu, Inga Talvik, Klari Noormets, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2023
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy
Kaisa Teele Oja, Mihkel Ilisson, Karit Reinson, et al.
Frontiers in Neurology
|
December 17, 2025
Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts
Kaisa T Oja, Mihkel Ilisson, Karit Reinson, et al.
Clinical Genetics
|
February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile
Dmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.
Page
of 5