R. Žordania

发表

Prenatal Diagnosis of 17p13.1p13.3 Duplication

N. Horelli-Kuitunen, K. Kiiski, T. Roovere, 2012, Case reports in medicine.

An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature

S. Pajusalu, O. Žilina, T. Reimand, 2016, Clinical case reports.

A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability

S. Pajusalu, K. Õunap, M. Gundogdu, 2019, FEBS letters.

University of Dundee A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability Pravata,

S. Pajusalu, K. Õunap, M. Gundogdu, 2019 .

Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.

K. Õunap, R. Žordania, K. Joost, 2011, Molecular genetics and metabolism.

Serum lipid and apolipoprotein profiles in newborns and six‐year‐old children: The Tallinn Young Family Study

J. Sundvall, M. Jauhiainen, R. Žordania, 2005, Scandinavian journal of clinical and laboratory investigation.

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

The neonatal phenotype of Prader–Willi syndrome

K. Õunap, T. Talvik, R. Žordania, 2006, American journal of medical genetics. Part A.

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia

S. Pajusalu, K. Õunap, I. Talvik, 2021, Frontiers in Genetics.

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.

N. Tõnisson, T. Reimand, K. Õunap, 2010, International journal of pediatric otorhinolaryngology.

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature

T. Reimand, K. Õunap, R. Teek, 2010, European Journal of Pediatrics.

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

A. Peet, V. Tillmann, S. Pajusalu, 2019, European Journal of Human Genetics.

Natural history of KBG syndrome in a large European cohort

N. Brunetti‐Pierri, F. Santorelli, T. Reimand, 2022, Human molecular genetics.

Three 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 development

K. Õunap, R. Žordania, O. Uibo, 2004, American journal of medical genetics. Part A.

Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency

O. Žilina, P. Tammur, K. Õunap, 2011, Molecular Syndromology.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

T. Meitinger, T. Strom, H. Prokisch, 2015, American journal of human genetics.

Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.

N. Tõnisson, M. Nelis, O. Žilina, 2013, Advances in medical sciences.

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.

R. Rodenburg, K. Õunap, R. Žordania, 2010, Pediatric neurology.

Mutations in CLPB cause intellectual disability , congenital neutropenia , progressive brain atrophy , movement disorder , cataracts and 3-methylglutaconic aciduria Running title : CLPB defect

Arjan, T. Meitinger, H. Prokisch, 2014 .

Descriptive epidemiology of Down's syndrome in Estonia.

T. Reimand, K. Õunap, T. Talvik, 2006, Paediatric and perinatal epidemiology.

Neonatal screening for congenital hypothyroidism in Estonia

R. Žordania, R. Mikelsaar, M. Viikmaa, 1998, Journal of medical screening.

Prevalence of Angelman syndrome and Prader–Willi syndrome in Estonian children: Sister syndromes not equally represented

K. Õunap, T. Talvik, R. Žordania, 2006, American journal of medical genetics. Part A.

The live-birth prevalence of mucopolysaccharidoses in Estonia.

K. Õunap, I. Talvik, R. Žordania, 2012, Genetic testing and molecular biomarkers.

Parents’ Satisfaction with Medical and Social Assistance Provided to Children with Down Syndrome: Experience in Estonia

T. Reimand, K. Õunap, T. Talvik, 2004, Public Health Genomics.

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

K. Õunap, K. Kilk, R. Olsen, 2012, JIMD reports.

Girl with partial Turner syndrome and absence epilepsy.

K. Õunap, R. Žordania, O. Bartsch, 2008, Pediatric neurology.

Three families with mild PMM2‐CDG and normal cognitive development

S. Pajusalu, K. Õunap, E. Morava, 2017, American journal of medical genetics. Part A.

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.

N. Tõnisson, K. Õunap, R. Teek, 2009, International journal of pediatric otorhinolaryngology.

A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children

R. Rodenburg, K. Õunap, L. P. Van den Heuvel, 2012, Molecular Syndromology.