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Publications by Ekaterina Michonova

Rare Missense Variant p.Ala505Ser in the ZAK Protein Observed in a Patient With Split-Hand/Foot Malformation From a Non-Consanguineous Pedigree

Journal of International Medical Research

English

Related publications

Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree With Early-Onset Gout

BioMed Research International

English

Bilateral Split Hand and Split Foot Malformation in a Boy With a De Novo Interstitial Deletion of 7q21.3

Journal of Medical Genetics

Genetics

1991

English

Homozygous Sequence Variants in the WNT10B Gene Underlie Split Hand/Foot Malformation

Genetics and Molecular Biology

Genetics

Molecular Biology

2018

English

A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1

Molecular Syndromology

Genetics

2016

English

Recurrent Streptococcus Pneumoniae Meningitis in a Child With Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia

Journal of Developmental and Physical Disabilities

Physical Therapy

Sports Therapy

Rehabilitation

Educational Psychology

Developmental

2015

English

Scleroderma in a Patient on Capecitabine: Is This a Variant of Hand-Foot Syndrome?

Cureus

2016

English

17p13.3 Genomic Rearrangement in a Chinese Family With Split-Hand/Foot Malformation With Long Bone Deficiency: Report of a Complicated Duplication With Marked Variation in Phenotype

Orphanet Journal of Rare Diseases

English

Absent Expression of the Osteoblast-Specific Maternally Imprinted Genes,DLX5andDLX6,causes Split Hand/Split Foot Malformation Type I

Journal of Medical Genetics

Genetics

2014

English

A Rare PHKA2 Variant (p.G991A) Identified in a Patient With Ketotic Hypoglycemia

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Ekaterina Michonova

Rare Missense Variant p.Ala505Ser in the ZAK Protein Observed in a Patient With Split-Hand/Foot Malformation From a Non-Consanguineous Pedigree

Related publications

Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree With Early-Onset Gout

Bilateral Split Hand and Split Foot Malformation in a Boy With a De Novo Interstitial Deletion of 7q21.3

Homozygous Sequence Variants in the WNT10B Gene Underlie Split Hand/Foot Malformation

A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1

Recurrent Streptococcus Pneumoniae Meningitis in a Child With Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia

Scleroderma in a Patient on Capecitabine: Is This a Variant of Hand-Foot Syndrome?

17p13.3 Genomic Rearrangement in a Chinese Family With Split-Hand/Foot Malformation With Long Bone Deficiency: Report of a Complicated Duplication With Marked Variation in Phenotype

Absent Expression of the Osteoblast-Specific Maternally Imprinted Genes,DLX5andDLX6,causes Split Hand/Split Foot Malformation Type I

A Rare PHKA2 Variant (p.G991A) Identified in a Patient With Ketotic Hypoglycemia