Nikolay V. Zernov
1, Moskvorechie Str
Moscow, MOW 115478, Russian Federation
Moscow, MOW 115478, Russian Federation
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
The Russian FSHD registry: a first look at the cohort.
Journal: Human genetics
Published: April 16, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Journal: American journal of human genetics
Published: December 18, 2025
First Symptomatic Pediatric Case of Hb Rothschild (HBB: c.112T>C, p.Trp38Arg): Low-Oxygen-Affinity Hemoglobin Presenting with Persistent Pseudohypoxemia.
Journal: Diagnostics (Basel, Switzerland)
Published: November 18, 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
FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach.
Journal: Diagnostics (Basel, Switzerland)
Published: March 29, 2021
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.
Journal: Gene
Published: January 17, 2018
Clinical and genetic characteristics of facioscapulohumeral muscular dystrophy Landuzi-Dezherina type 1
Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Published: December 22, 2017
Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes.
Journal: Reproductive biology and endocrinology : RB&E
Published: June 08, 2016
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.
Journal: The Journal of investigative dermatology
Published: October 05, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026