Riina Žordania

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

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 147 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +11

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi et al. · The American Journal of Human Genetics · 2015 · 135 citations · Full text

Genetic Disorder, Genetics, Progressive Brain Atrophy +7

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

Katrin Õunap, Riina Žordania, Liina Kiho et al. · American Journal of Medical Genetics Part A · 2004 · 73 citations

Xy Complement, Cytogenetics, Genetics +19

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

Veronica M. Pravatà, Mehmet Gundogdu, Sergio G. Bartual et al. · FEBS Letters · 2019 · 59 citations · Full text

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

Maria Yakoreva, Tiina Kahre, Riina Žordania et al. · European Journal of Human Genetics · 2019 · 40 citations · Full text

Retrospective Analysis, Psychiatry