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The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.719437
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- Article
Descriptive epidemiology of Down’s syndrome in Estonia.
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- Paediatric & Perinatal Epidemiology, 2006, v. 20, n. 6, p. 512, doi. 10.1111/j.1365-3016.2006.00758.x
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- Article
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.
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- European Journal of Pediatrics, 2010, v. 169, n. 4, p. 469, doi. 10.1007/s00431-009-1058-1
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- Article
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases.
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- Molecular Syndromology, 2018, v. 9, n. 4, p. 205, doi. 10.1159/000490083
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- Publication type:
- Article
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.
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- Molecular Syndromology, 2018, v. 9, n. 4, p. 182, doi. 10.1159/000489446
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- Article
Complex I deficiency and Leigh syndrome through the eyes of a clinician.
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- EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.202013187
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- Article
Incidence of Childhood Epilepsy in Estonia.
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- Journal of Child Neurology, 2018, v. 33, n. 9, p. 587, doi. 10.1177/0883073818776760
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- Article
De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders.
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- Journal of Child Neurology, 2014, v. 29, n. 12, p. NP202, doi. 10.1177/0883073813511300
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- Article
AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2157
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- Article
A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1787
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- Article
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1154
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- 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
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- Article
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0
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- Article
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0
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- Article
Three families with mild PMM2-CDG and normal cognitive development.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1620, doi. 10.1002/ajmg.a.38235
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- Publication type:
- Article
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2173, doi. 10.1002/ajmg.a.37678
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- Article
Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1913, doi. 10.1002/ajmg.a.37105
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- Publication type:
- Article
A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 806, doi. 10.1002/ajmg.a.36358
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- Article
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
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- Metabolic Brain Disease, 2018, v. 33, n. 3, p. 875, doi. 10.1007/s11011-018-0197-3
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- Article
Development of the phenylketonuria screening programme in Estonia.
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- Journal of Medical Screening, 1998, v. 5, n. 1, p. 22, doi. 10.1136/jms.5.1.22
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- Article
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
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- Cancers, 2023, v. 15, n. 14, p. 3663, doi. 10.3390/cancers15143663
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- Publication type:
- Article
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.
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- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1327, doi. 10.1038/ejhg.2014.25
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- Article
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 947, doi. 10.1038/ejhg.2011.58
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- Article
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 604, doi. 10.1002/jmd2.12325
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- Article
Investigating the cardiac pathology of SCO2‐mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell–derived cardiomyocytes.
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- Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 2, p. 913, doi. 10.1111/jcmm.13392
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- Article
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.
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- Clinical Case Reports, 2016, v. 4, n. 8, p. 824, doi. 10.1002/ccr3.632
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- Article
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
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- Clinical Genetics, 2024, v. 105, n. 6, p. 655, doi. 10.1111/cge.14498
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- Article
MOGS‐CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub>Man tetrasaccharide and clinical spectrum of six new cases.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 313, doi. 10.1002/jimd.12588
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- Article
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 853, doi. 10.1007/s10545-017-0057-z
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- Publication type:
- Article
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 171, doi. 10.1007/s10545-016-9990-5
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- Article
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 923, doi. 10.1007/s10545-011-9325-5
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- Article
Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients.
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- 2010
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- Publication type:
- Letter
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
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- Article
A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.614
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- Publication type:
- Article
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
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- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1426, doi. 10.1093/hmg/ddaa051
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- Article
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
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- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2861, doi. 10.1093/hmg/ddv046
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- 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
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- Publication type:
- Article
Prevalence of the Fragile X Syndrome Among Estonian Mentally Retarded and the Entire Children's Population.
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- Journal of Child Neurology, 2008, v. 23, n. 12, p. 1400, doi. 10.1177/0883073808319071
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- Article
A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability.
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- FEBS Letters, 2020, v. 594, n. 4, p. 717, doi. 10.1002/1873-3468.13640
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- Article
Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays.
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- Prenatal Diagnosis, 2010, v. 30, n. 12/13, p. 1170, doi. 10.1002/pd.2639
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- Publication type:
- Article
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder.
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- Human Mutation, 2022, v. 43, n. 12, p. 1844, doi. 10.1002/humu.24444
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- Article
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related.
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- Human Mutation, 2022, v. 43, n. 10, p. 1347, doi. 10.1002/humu.24421
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- Article
Increased Dosage of RAB39 B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains.
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- Human Mutation, 2014, v. 35, n. 3, p. 377, doi. 10.1002/humu.22497
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- Article
Mutation 985A>G in the MCAD gene shows low incidence in Estonian population.
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- Human Mutation, 2000, v. 15, n. 3, p. 293, doi. 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU12>3.0.CO;2-N
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- Article
Silver-Russell Syndrome and Beckwith- Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.
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- Molecular Syndromology, 2016, v. 7, n. 3, p. 110, doi. 10.1159/000447413
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- Publication type:
- Article
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.
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- Molecular Syndromology, 2015, v. 6, n. 3, p. 147, doi. 10.1159/000437061
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- Publication type:
- Article
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.
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- Molecular Syndromology, 2015, v. 6, n. 3, p. 135, doi. 10.1159/000438776
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- Publication type:
- Article