Associated Papers
Genetic Landscape of Opsoclonus-Myoclonus-Ataxia Syndrome in Children.
Gorman MP et al.
Pediatric Neurology, 2025
Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.
Nakamura A et al.
Scientific Reports, 2024
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
Germline deletion of ETV6 in familial acute lymphoblastic leukemia.
Rampersaud E et al.
Blood Advances, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
30315151 (PubMed )
Supplement: 41398_2018_226_MOESM2_ESM.xlsx › Supplemental_Table_5
Functional and In Silico Assessment of GDF3 Gene Variants in a Chinese Congenital Scoliosis Population.
Chen J et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2018
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
Bardakjian T et al.
American Journal of Ophthalmology Case Reports, 2017
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
Asai-Coakwell M et al.
Human Molecular Genetics, 2013
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
Ye M et al.
Human Molecular Genetics, 2010
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