Related Experiment Videos
An unusual pedigree with microcornea-cataract syndrome
E Stefaniak1, J Zaremba, I Cieślińska
1Ophthalmological Department, Medical School, Bydgoszcz, Poland.
Journal of Medical Genetics
|October 1, 1995
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation.
Neurologia i neurochirurgia polska·2015
Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features.
Journal of applied genetics·2010
Interleukin-18 in acute ischaemic stroke patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2003
sPECAM-1 in serum and CSF of acute ischaemic stroke patients.
Acta neurologica Scandinavica·2002
[Clinical picture of spinocerebellar ataxia type I (SCA1)].
Neurologia i neurochirurgia polska·2002
Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.
Journal of medical genetics·2026
Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.
Journal of medical genetics·2026
Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.
Journal of medical genetics·2026
CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.
Journal of medical genetics·2026
Influence of tea-derived polyphenols architecture on the structural, functional and allergenicity properties of β-lactoglobulin: A comparison of non-covalent and covalent interactions.
Food research international (Ottawa, Ont.)·2026
Revisiting stantienite-like black materials: beyond the "black amber" label.
Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026
Dual Thermoresponsive Crystals: Synchronous Macroscopic Expansion and Directional Color Switch.
Small (Weinheim an der Bergstrasse, Germany)·2026
From pathogenesis to therapy: extracellular vesicles in osteoarthritis.
Frontiers in bioengineering and biotechnology·2026