about
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberA new highly penetrant form of obesity due to deletions on chromosome 16p11.2.Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.Fertility in adult women with classic galactosemia and primary ovarian insufficiency.Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Treatment outcome of creatine transporter deficiency: international retrospective cohort study.Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.MECP2 mutation analysis in patients with mental retardation.Three families with mild PMM2-CDG and normal cognitive development.Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsDe novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationNeurologic phenotypes associated with / mutations: Expanding the spectrum of diseaseCan untreated PKU patients escape from intellectual disability? A systematic reviewIncreased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number GainsA prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 geneThe evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory recordsThe incidence and characterization of phenylketonuric patients in EstoniaBoy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qterFamilial Williams-Beuren syndromeThree patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal developmentTwo sisters with Silver-Russell phenotypeA girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndromeA female with Angelman syndrome and unusual limb deformitiesMaternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two familiesMolecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia
P50
Q29147460-D778C573-627B-4840-910B-38FBEE87A671Q33892998-2DED23DB-C31C-4492-9423-8ABE221BE3E9Q35230081-8B19A0AD-752F-4E90-A266-76E6185D0FB8Q36433260-7FF68600-A2E1-400F-964A-329F75931354Q37058516-E4415ACE-6487-45FA-A9A8-087A86283073Q37302596-E679B635-2540-4EAD-9AD4-9734243C2411Q37639848-BB31CEAA-CC6D-43BE-8F52-D5146CD9CF86Q38078154-1E64115C-B318-4A1E-B7B5-C891E86446B2Q38688743-1E3511D1-78F1-4B64-B92B-D5EA839C7E13Q38689946-600BCAA5-5452-4C9C-BBEF-194E1B75A6F6Q38745696-40AFA7C7-02B2-4C6F-8BFF-FA380539FB2AQ42256086-9D6CFE34-12A3-47BA-AD0B-DFECD4C8E0DFQ42356989-9BD94703-4634-410D-8C3F-D3ED9BC939D8Q42452162-368E629E-657F-48FC-BCA0-0B28CCF1CAA5Q46074628-18258E48-ADC9-41C7-8EDE-FDF9537DAACFQ47855395-6D0225E8-5616-429E-B087-1CF36E4A3BD6Q48199735-720159DE-2097-4BE8-AA5B-6688A7F07FBCQ48510862-63EC36D9-8B4D-456C-9EB9-4701EBA7EEC1Q50050915-B1823311-754B-4C5F-BAF8-2D8E51E3B71FQ51803165-AF518B76-0ACE-4B73-A5AA-A037F44C74E6Q51935037-C7BE366A-5C20-4902-85E5-854C4CB57E54Q52098083-BF5A1061-5F04-4FAC-8738-841053A04AE4Q52321055-11617F1D-AC99-45AA-BCD6-03C7AB6CB699Q55051198-0AECCAB2-7691-477B-B2F2-4C52E3C83CE6Q56923019-18FC7F79-DBD6-46AB-B54C-7888316988CCQ58060845-05821AD9-B452-4563-8C38-BB9CC0DA0166Q58568761-4DBB183E-1A1A-4BF9-A06E-D5738DA47152Q58695139-C10F9207-74EA-4993-9788-A69F04E4A48BQ62320846-0981257C-7CFE-4DC6-8DED-23F6B3CE5796Q64040020-0296ED60-3E68-4E8A-BA0E-EEDF618C6CC1Q64058835-913D5032-F334-4DB6-9D44-C494F508A508Q71523718-B3A5ED16-75A1-4416-B47B-1E3905BB1E9EQ74200047-969EF24C-CA01-4810-8BD5-DDF5C419C3EAQ77764778-A6FE3406-D41B-43B7-9727-1A1B3B6D0EAEQ80853343-A3ED15B0-FD9C-4AB8-A391-64812765A383Q80954019-E82A1B64-202E-4A8D-9A39-9B5F9296FDE0Q81581661-8B3446B1-37E7-476B-8C25-CFDF6AA9D1DAQ81720645-AA3C0283-EA8A-4E9C-83A5-6B04BC123F0CQ82622734-72AB0FBF-AF4B-4A23-8001-D5737705B16CQ82763152-22CC9E01-821F-439E-B6C5-AFEF3768A318
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
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name
KATRIN OUNAP
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KATRIN OUNAP
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KATRIN OUNAP
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KATRIN OUNAP
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type
label
KATRIN OUNAP
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KATRIN OUNAP
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KATRIN OUNAP
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KATRIN OUNAP
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KATRIN OUNAP
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KATRIN OUNAP
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KATRIN OUNAP
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KATRIN OUNAP
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P1053
Q-1103-2016
P106
P31
P496
0000-0002-4594-6364