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DataGenno: building a new tool to bridge molecular and clinical genetics JOURNAL ARTICLE published March 2011 in The Application of Clinical Genetics |
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<p>Haptoglobin Gene Polymorphism in Patients with Sickle Cell Anemia: Findings from a Nigerian Cohort Study</p> JOURNAL ARTICLE published May 2020 in The Application of Clinical Genetics |
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Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype JOURNAL ARTICLE published July 2021 in The Application of Clinical Genetics |
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Role of elosulfase alfa in mucopolysaccharidosis IVA JOURNAL ARTICLE published June 2016 in The Application of Clinical Genetics |
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Current status of gene therapy for breast cancer: progress and challenges JOURNAL ARTICLE published November 2014 in The Application of Clinical Genetics |
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Identifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension JOURNAL ARTICLE published March 2021 in The Application of Clinical Genetics |
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Identifying the genetic components underlying the pathophysiology of movement disorders JOURNAL ARTICLE published June 2011 in The Application of Clinical Genetics |
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Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study JOURNAL ARTICLE published September 2021 in The Application of Clinical Genetics |
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<p>Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors</p> JOURNAL ARTICLE published June 2020 in The Application of Clinical Genetics |
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A comparison of the genetic and clinical profile of men that respond and do not respond to the immediate antihypertensive effects of aerobic exercise JOURNAL ARTICLE published September 2008 in The Application of Clinical Genetics |
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Genetic screening for homozygous and heterozygous familial hypercholesterolemia JOURNAL ARTICLE published December 2010 in The Application of Clinical Genetics |
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<p>First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities</p> JOURNAL ARTICLE published July 2019 in The Application of Clinical Genetics |
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NAT2 Gene rs1041983 is Associated with Anti-Tuberculosis Drug Induced Hepatotoxicity Among Pediatric Tuberculosis in Bandung, Indonesia JOURNAL ARTICLE published June 2021 in The Application of Clinical Genetics |
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ITPA:c.94C>A and NUDT15:c.415C>T Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand JOURNAL ARTICLE published July 2021 in The Application of Clinical Genetics |
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Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure JOURNAL ARTICLE published February 2024 in The Application of Clinical Genetics |
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Influence of oncogenic transcription factors on chromatin conformation and implications in prostate cancer JOURNAL ARTICLE published May 2014 in The Application of Clinical Genetics |
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Recent advances in gene therapy for lysosomal storage disorders JOURNAL ARTICLE published June 2015 in The Application of Clinical Genetics |
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Genetic Links to Episodic Movement Disorders: Current Insights JOURNAL ARTICLE published March 2023 in The Application of Clinical Genetics |
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Aortic calcification in Gaucher disease: a case report JOURNAL ARTICLE published October 2018 in The Application of Clinical Genetics |
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Novel mutation in <em>ABBC9</em> gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype JOURNAL ARTICLE published March 2018 in The Application of Clinical Genetics |