Mikhail Y. Skoblov
Moscow, MOW 115522, Russian Federation
Last Updated: 09/26/2026
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Found 91 publications
The Russian FSHD registry: a first look at the cohort.
Journal: Human genetics
Published: April 16, 2026
PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review.
PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review.
Journal: Molecular genetics & genomic medicine
Published: January 01, 2026
Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.
Journal: Frontiers in medicine
Published: October 22, 2025
Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia.
Journal: Frontiers in genetics
Published: September 19, 2025
A Rare Clinical Presentation of Variegate Porphyria.
Journal: Molecular genetics & genomic medicine
Published: September 11, 2025
Two variants in SLC34A3 in a patient with X-linked hypophosphatemia: a diagnostic and therapeutic dilemma.
Journal: Pediatric nephrology (Berlin, Germany)
Published: September 10, 2025
Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders.
Journal: Frontiers in genetics
Published: September 05, 2025
A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment.
Journal: Frontiers in medicine
Published: August 06, 2025
Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene.
Journal: Frontiers in genetics
Published: July 21, 2025
Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis.
Journal: Frontiers in genetics
Published: July 11, 2025
Last Updated: 09/26/2026