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TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

International journal of molecular sciences, 2023-11, Vol.24 (21), p.15572

2023

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Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

International journal of molecular sciences, 2022-08, Vol.23 (17), p.9576

2022

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Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation

International journal of molecular sciences, 2023-04, Vol.24 (8), p.7449

2023

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Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

International journal of molecular sciences, 2022-12, Vol.23 (24), p.15748

2022

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Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss

The journal of international advanced otology, 2024-03, Vol.20 (2), p.119-126

2024

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The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy

Clinical genetics, 2024-05, Vol.105 (5), p.573-580

2024

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Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia

Travmatologii͡a︡ i ortopedii͡a︡ Rossii, 2021-10, Vol.27 (3), p.71-83

2021

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ITRA2B/I Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

International journal of molecular sciences, 2023-10, Vol.24 (21)

2023

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A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53

Genes, 2021-10, Vol.12 (10), p.1618

2021

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Markers of melanoma progression in the blood serum structure

Journal of clinical oncology, 2019-05, Vol.37 (15_suppl), p.e21035-e21035

2019

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Genetic and Clinical Spectrum of GNE Myopathy in Russia

Genes, 2022-10, Vol.13 (11), p.1991

2022

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Oxidative processes in the blood during chemotherapy and lethality of patients with multiple myeloma

Journal of clinical oncology, 2018-05, Vol.36 (15_suppl), p.e20027-e20027

2018

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The influence of parvovirus B19 (B19V) on the results of chemotherapy in adult patients with lymphoma

Journal of clinical oncology, 2019-05, Vol.37 (15_suppl), p.e19022-e19022

2019

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Activity of thymidine kinase as a prognostic marker of malignant proliferation in adolescents with lymphadenopathy

Journal of clinical oncology, 2019-05, Vol.37 (15_suppl), p.e19013-e19013

2019

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Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss

Journal of personalized medicine, 2022-11, Vol.12 (11), p.1843

2022

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The meaning of determination of some immunophenotypical parameters of bone marrow in patients with multiple myeloma in the disease monitoring

Journal of clinical oncology, 2016-05, Vol.34 (15_suppl), p.e19501-e19501

2016

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Some characteristics of invasive candidiasis pathogens

Journal of clinical oncology, 2017-05, Vol.35 (15_suppl), p.e14084-e14084

2017

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MARKETING ASPECTS OF CREATION AND FUNCTIONING OF INDUSTRIAL PARKS IN THE REGIONS

Srednerusskiĭ vestnik obshchestvennykh nauk = The herald of middle Russia's social sciences, 2015-11, Vol.10 (6), p.345-349

2015

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Assessment of herpes virus occurrence frequency in lymphoma patients

Journal of clinical oncology, 2014-05, Vol.32 (15_suppl), p.e19530-e19530

2014

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Analysis of apoptotic processes in bone marrow cell culture of lymphoma (L) patients (pts)

Journal of clinical oncology, 2014-05, Vol.32 (15_suppl), p.e14018-e14018

2014

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Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss

The journal of international advanced otology, 2024-03, Vol.20 (2), p.119

2024

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TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

International journal of molecular sciences, 2023, Vol.24 (21)

2023

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Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation

International journal of molecular sciences, 2023, Vol.24 (8)

2023

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PF-114 in Patients Failing Prior Tyrosine Kinase-Inhibitor Therapy Including BCR::ABL1T315I

Blood, 2021-11, Vol.138, p.1482-1482

2021

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PF-114 in Patients Failing Prior Tyrosine Kinase-Inhibitor Therapy Including BCR::ABL1 T315I

Blood, 2021-11, Vol.138 (Supplement 1), p.1482-1482

2021

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TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation

Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss

The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy

Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia

ITRA2B/I Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53

Markers of melanoma progression in the blood serum structure

Genetic and Clinical Spectrum of GNE Myopathy in Russia

Oxidative processes in the blood during chemotherapy and lethality of patients with multiple myeloma

The influence of parvovirus B19 (B19V) on the results of chemotherapy in adult patients with lymphoma

Activity of thymidine kinase as a prognostic marker of malignant proliferation in adolescents with lymphadenopathy

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss

The meaning of determination of some immunophenotypical parameters of bone marrow in patients with multiple myeloma in the disease monitoring

Some characteristics of invasive candidiasis pathogens

MARKETING ASPECTS OF CREATION AND FUNCTIONING OF INDUSTRIAL PARKS IN THE REGIONS

Assessment of herpes virus occurrence frequency in lymphoma patients

Analysis of apoptotic processes in bone marrow cell culture of lymphoma (L) patients (pts)

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation

PF-114 in Patients Failing Prior Tyrosine Kinase-Inhibitor Therapy Including BCR::ABL1T315I

PF-114 in Patients Failing Prior Tyrosine Kinase-Inhibitor Therapy Including BCR::ABL1 T315I

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