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Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory

European journal of medical genetics, 2023-11, Vol.66 (11), p.104847-104847, Article 104847

2023

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Energy Homeostasis Gene Nucleotide Variants and Survival of Hemodialysis Patients—A Genetic Cohort Study

Journal of clinical medicine, 2022-09, Vol.11 (18), p.5477

2022

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Sucrase‐isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders

Journal of pediatric gastroenterology and nutrition, 2021-01, Vol.72 (1), p.29-35

2021

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Association of genetic variants of the Fat Mass and Obesity (FTO) gene and obesity in children

Portuguese journal of pediatrics (Online), 2024-04, Vol.55 (2)

2024

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Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic

Asian journal of andrology, 2024, Vol.26 (1), p.41-45

2024

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The association between variants in the CFTR gene and nonobstructive male infertility: A meta‐analysis

Andrologia, 2020-03, Vol.52 (2), p.e13475-n/a

2020

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Zielgerichtete Therapien in der gastrointestinalen Onkologie

Deutsche medizinische Wochenschrift, 2023-10, Vol.149 (8), p.440-446

Lange, Sebastian

2023

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Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene

Balkan journal of medical genetics, 2024-06, Vol.27 (1), p.59-63

2024

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Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome

EBioMedicine, 2024-05, Vol.103, p.105108-105108, Article 105108

2024

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The association between HTR1B gene rs13212041 polymorphism and onset of alcohol abuse

Neuropsychiatric disease and treatment, 2019-01, Vol.15, p.339-347

2019

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Is there any association between rs1303 (PiM3) variant of alpha‐1 antitrypsin gene and atrial septal aneurysm development?

Journal of cardiac surgery, 2019-11, Vol.34 (11), p.1215-1219

2019

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Male awareness of prostate cancer risk remains poor in relatives of women with germline variants in DNA-repair genes

BJUI compass, 2023-11, Vol.4 (6), p.738-745

2023

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Investigation of relationship between IL-6 gene variants and hypertension in Turkish population

Cytotechnology (Dordrecht), 2015-12, Vol.67 (6), p.947-954

2015

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Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing–based analysis for hemophilia: experience from a hemophilia treatment center in China

Journal of thrombosis and haemostasis, 2024-09

2024

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Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants

Journal of allergy and clinical immunology, 2024-08

2024

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Association of wnt9b rs1530364 and wnt5a rs566926 gene polymorphisms with nonsyndromic cleft lip and palate in South Indian population using deoxyribonucleic acid sequencing

Contemporary clinical dentistry, 2020-01, Vol.11 (1), p.60-66

2020

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Risk factors for inhibitor development in severe hemophilia A

Thrombosis research, 2018-08, Vol.168, p.20-27

2018

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The Effect of Carriage of CYP3A53 and CYP3A422 Polymorphic Variants on the Safety of Remdesivir Therapy in Patients with COVID-19

Antibiotics and Chemotherapy, 2022-11, Vol.67 (7-8), p.45-50

2022

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Acute Myocarditis Associated With Desmosomal Gene Variants

JACC. Heart failure, 2022-10, Vol.10 (10), p.714-727

2022

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Sekundäre Ursachen der Fettleber – Neues zur Pathogenese, rationalen Diagnostik und Therapie

Deutsche medizinische Wochenschrift, 2020-02, Vol.145 (3), p.140-145

2020

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FURIN, IFNL4, and TLR2 gene polymorphisms in relation to COVID-19 severity: a case-control study in Egyptian patients

Infection, 2024-05

2024

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Tumor Necrosis Factor-α Gene Polymorphism (G-308A) and Dilated Cardiomyopathy

International Heart Journal, 2019, pp.17-293

2019

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Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience

Frontiers in oncology, 2023-10, Vol.13, p.1182639-1182639

2023

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Milk protein polymorphisms and casein haplotypes in Blanco Orejinegro cattle of Colombia

Revista de ciências agroveterinárias, 2024-04, Vol.23 (1), p.117-129

2024

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Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory

Energy Homeostasis Gene Nucleotide Variants and Survival of Hemodialysis Patients—A Genetic Cohort Study

Sucrase‐isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders

Association of genetic variants of the Fat Mass and Obesity (FTO) gene and obesity in children

Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic

The association between variants in the CFTR gene and nonobstructive male infertility: A meta‐analysis

Zielgerichtete Therapien in der gastrointestinalen Onkologie

Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene

Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome

The association between HTR1B gene rs13212041 polymorphism and onset of alcohol abuse

Is there any association between rs1303 (PiM3) variant of alpha‐1 antitrypsin gene and atrial septal aneurysm development?

Male awareness of prostate cancer risk remains poor in relatives of women with germline variants in DNA-repair genes

Investigation of relationship between IL-6 gene variants and hypertension in Turkish population

Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing–based analysis for hemophilia: experience from a hemophilia treatment center in China

Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants

Association of wnt9b rs1530364 and wnt5a rs566926 gene polymorphisms with nonsyndromic cleft lip and palate in South Indian population using deoxyribonucleic acid sequencing

Risk factors for inhibitor development in severe hemophilia A

The Effect of Carriage of CYP3A53 and CYP3A422 Polymorphic Variants on the Safety of Remdesivir Therapy in Patients with COVID-19

Acute Myocarditis Associated With Desmosomal Gene Variants

Sekundäre Ursachen der Fettleber – Neues zur Pathogenese, rationalen Diagnostik und Therapie

FURIN, IFNL4, and TLR2 gene polymorphisms in relation to COVID-19 severity: a case-control study in Egyptian patients

Tumor Necrosis Factor-α Gene Polymorphism (G-308A) and Dilated Cardiomyopathy

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience

Milk protein polymorphisms and casein haplotypes in Blanco Orejinegro cattle of Colombia

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