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Publications by Giedre Grigelioniene

Gain-Of-Function Mutation of microRNA-140 in Human Skeletal Dysplasia

Nature Medicine
BiochemistryMedicineGeneticsMolecular Biology
2019English

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

American Journal of Human Genetics
Genetics
2014English

A Novel 13 Base Pair Insertion in the Sonic Hedgehog ZRS Limb Enhancer (ZRS/LMBR1) Causes Preaxial Polydactyly With Triphalangeal Thumb

Human Mutation
Genetics
2012English

Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

Journal of Bone and Mineral Research
EndocrinologyOrthopedicsSports MedicineMetabolismDiabetes
2018English

A Novel Phenotype in N-Glycosylation Disorders: Gillessen-Kaesbach–Nishimura Skeletal Dysplasia Due to Pathogenic Variants in ALG9

European Journal of Human Genetics
Genetics
2015English

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