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Science (New York, N.Y.)
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November 11, 2006
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH
Anastasiya Kazantseva, Andrey Goltsov, Rena Zinchenko, et al.
Pigment Cell & Melanoma Research
|
December 22, 2025
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population
Sofya Ionova, Andrey Marakhonov, Vitaliy Kadyshev, et al.
International Journal of Molecular Sciences
|
October 16, 2025
13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies
Irina Efimova, Anna Mukhina, Zhanna Markova, et al.
Journal of Clinical Laboratory Analysis
|
July 12, 2025
Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort
Andrey Marakhonov, Ekaterina Kalinina, Sergey Larin, et al.
International Journal of Molecular Sciences
|
July 27, 2022
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Olga Levchenko, Elena Dadali, Ludmila Bessonova, et al.
Genes
|
September 28, 2023
Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel
Elena Kondratyeva, Yuliya Melyanovskaya, Anna Efremova, et al.
Genes
|
December 30, 2025
Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects
Rena Zinchenko, Inna Tebieva, Aysylu Murtazina, et al.
International Journal of Molecular Sciences
|
March 14, 2026
A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1
Tatyana Vasilyeva, Nataliya Kashirskaya, Anna Mukhina, et al.
Frontiers in Genetics
|
November 12, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation
Elena Kondratyeva, Yuliya Melyanovskaya, Victoriya Sherman, et al.
Genes
|
June 2, 2021
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant
Elena Kondratyeva, Tatyana Bukharova, Anna Efremova, et al.
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Search research articles
Search
Showing results (11-20 of 27) with videos related to
Sort By:
Page
of 3
Science (New York, N.Y.)
|
November 11, 2006
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH
Anastasiya Kazantseva, Andrey Goltsov, Rena Zinchenko, et al.
Pigment Cell & Melanoma Research
|
December 22, 2025
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population
Sofya Ionova, Andrey Marakhonov, Vitaliy Kadyshev, et al.
International Journal of Molecular Sciences
|
October 16, 2025
13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies
Irina Efimova, Anna Mukhina, Zhanna Markova, et al.
Journal of Clinical Laboratory Analysis
|
July 12, 2025
Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort
Andrey Marakhonov, Ekaterina Kalinina, Sergey Larin, et al.
International Journal of Molecular Sciences
|
July 27, 2022
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Olga Levchenko, Elena Dadali, Ludmila Bessonova, et al.
Genes
|
September 28, 2023
Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel
Elena Kondratyeva, Yuliya Melyanovskaya, Anna Efremova, et al.
Genes
|
December 30, 2025
Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects
Rena Zinchenko, Inna Tebieva, Aysylu Murtazina, et al.
International Journal of Molecular Sciences
|
March 14, 2026
A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1
Tatyana Vasilyeva, Nataliya Kashirskaya, Anna Mukhina, et al.
Frontiers in Genetics
|
November 12, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation
Elena Kondratyeva, Yuliya Melyanovskaya, Victoriya Sherman, et al.
Genes
|
June 2, 2021
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant
Elena Kondratyeva, Tatyana Bukharova, Anna Efremova, et al.
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