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Publications by Evelina Siavrienė

De Novo Splice Site Variant of ARID1B Associated With Pathogenesis of Coffin–Siris Syndrome

Molecular genetics & genomic medicine

Molecular Biology

English

Related publications

OP23.09: Prenatal Diagnosis of Coffin Siris Syndrome

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

Partial Trisomy 9 With Resemblance to Coffin-Siris Syndrome.

Journal of Medical Genetics

English

Vitiligo and Melanocytic Nevi: New Findings in Coffin-Siris Syndrome Associated With ARID1 Germline Mutation

JAAD Case Reports

English

A Risk Variant in an miR-125b Binding Site in BMPR1B Is Associated With Breast Cancer Pathogenesis

Cancer Research

Cancer Research

English

Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome

Diagnostic Pathology

Forensic Medicine

English

Shwachman Syndrome Associated With De Novo Reciprocal Translocation T(6;12)(q16.2;q21.2).

Journal of Medical Genetics

English

De Novo Truncating Variant in NSD2gene Leading to Atypical Wolf-Hirschhorn Syndrome Phenotype

BMC Medical Genetics

English

Novel NPHS1 Splice Site Mutations in a Chinese Child With Congenital Nephrotic Syndrome

Genetics and Molecular Research

Molecular Biology

English

Function of Apollo (SNM1B) at Telomere Highlighted by a Splice Variant Identified in a Patient With Hoyeraal-Hreidarsson Syndrome

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English