Works matching IS 1178704X AND DT 2020 AND VI 13
Results: 23
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
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- Application of Clinical Genetics, 2020, v. 13, p. 83, doi. 10.2147/TACG.S198178
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- Article
Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors.
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- Application of Clinical Genetics, 2020, v. 13, p. 127, doi. 10.2147/TACG.S245093
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A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.
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- Application of Clinical Genetics, 2020, v. 13, p. 151, doi. 10.2147/TACG.S261781
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PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.
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- Application of Clinical Genetics, 2020, v. 13, p. 57, doi. 10.2147/TACG.S232448
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- Article
Role of Adiponectin Gene and Receptor Polymorphisms and Their mRNA Levels with Serum Adiponectin Level in Myocardial Infarction.
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- Application of Clinical Genetics, 2020, v. 13, p. 241, doi. 10.2147/TACG.S282843
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- Article
Incidence of HNF1A and GCK MODY Variants in a South African Population.
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- Application of Clinical Genetics, 2020, v. 13, p. 209, doi. 10.2147/TACG.S281872
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- Article
Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.
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- Application of Clinical Genetics, 2020, v. 13, p. 221, doi. 10.2147/TACG.S275992
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- Article
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.
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- Application of Clinical Genetics, 2020, v. 13, p. 233, doi. 10.2147/TACG.S282240
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- Article
Voretigene Neparvovec and Gene Therapy for Leber's Congenital Amaurosis: Review of Evidence to Date.
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- Application of Clinical Genetics, 2020, v. 13, p. 179, doi. 10.2147/TACG.S230720
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The Human Genetic Variants CYP2J2 rs2280275 and EPHX2 rs751141 and Risk of Diabetic Nephropathy in Egyptian Type 2 Diabetic Patients.
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- Application of Clinical Genetics, 2020, v. 13, p. 165, doi. 10.2147/TACG.S281502
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- Article
Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization.
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- Application of Clinical Genetics, 2020, v. 13, p. 159, doi. 10.2147/TACG.S238715
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Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report.
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- Application of Clinical Genetics, 2020, v. 13, p. 147, doi. 10.2147/TACG.S251581
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- Article
Association of Cholinergic Muscarinic M4 Receptor Gene Polymorphism with Schizophrenia.
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- Application of Clinical Genetics, 2020, v. 13, p. 97, doi. 10.2147/TACG.S247174
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- Article
Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature.
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- Application of Clinical Genetics, 2020, v. 13, p. 49, doi. 10.2147/TACG.S239917
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- Article
The Influence of IL-1B Gene Polymorphisms on H. pylori Infection and Triple Treatment Response Among Jordanian Population.
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- Application of Clinical Genetics, 2020, v. 13, p. 139, doi. 10.2147/TACG.S253778
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- Article
The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case–Control Study.
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- Application of Clinical Genetics, 2020, v. 13, p. 115, doi. 10.2147/TACG.S248994
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- Article
A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.
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- Application of Clinical Genetics, 2020, v. 13, p. 63, doi. 10.2147/TACG.S243148
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- Article
Haptoglobin Gene Polymorphism in Patients with Sickle Cell Anemia: Findings from a Nigerian Cohort Study.
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- Application of Clinical Genetics, 2020, v. 13, p. 107, doi. 10.2147/TACG.S246607
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- Article
The Importance of Small Non-Coding RNAs in Human Reproduction: A Review Article.
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- Application of Clinical Genetics, 2020, v. 13, p. 1, doi. 10.2147/TACG.S207491
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- Article
Sjogren-Larsson Syndrome: Mechanisms and Management.
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- Application of Clinical Genetics, 2020, v. 13, p. 13, doi. 10.2147/TACG.S193969
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Alternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations.
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- Application of Clinical Genetics, 2020, v. 13, p. 71, doi. 10.2147/TACG.S210325
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Metabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome.
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- Application of Clinical Genetics, 2020, v. 13, p. 25, doi. 10.2147/TACG.S229828
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Alkaptonuria: Current Perspectives.
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- Application of Clinical Genetics, 2020, v. 13, p. 37, doi. 10.2147/TACG.S186773
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- Article