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Identification and functional validation of pathogenic small nucleotide variants in patients with craniosynostosis
Published 2023Subjects: “…Medical genetics…”
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Medical Genetic Conference 2007 Genetic Service: A Team Approach - Abstracts.
Published 2007“…Medical Genetic Conference 2007 Genetic…”
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Computational genetics and genomics : tools for understanding disease /
Published 2005Subjects: “…Medical genetics…”
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Markers of Renal Complications in Beta Thalassemia Patients with Iron Overload Receiving Chelation Agent Therapy: A Systematic Review
Published 2022Subjects: “…Medical Genetics (excl. Cancer Genetics)…”
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Article -
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The identification and characterisation of disease genes in craniosynostosis
Published 2015Subjects: “…Medical genetics…”
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Characterising structural variants in patients with craniosynostosis using short-read and long-range technologies
Published 2024Subjects:Thesis -
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Rare and low-frequency variants and predisposition to complex disease
Published 2017Subjects:Thesis -
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Identification of novel disease-causing genes in inherited retinal dystrophy
Published 2021Subjects: “…Medical genetics…”
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KEBUTUHAN DAN PEMBERIAN INFORMASI OLEH PERAWAT PADA REMAJA YANG MENDERITA KANKER DAN ORANGTUANYA: SEBUAH STUDI KUALITATIF
Published 2016Subjects: “…Medical Genetics (excl. Cancer Genetics)…”
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Identifying genes in Parkinson’s disease : state of the art
Published 2020Subjects: Get full text
Journal Article -
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7.343 A Love-Hate Relationship: Cholesterol in Health and Disease, Fall 2005
Published 2023Subjects: Get full text
Learning Object -
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7.344 RNA Interference: A New Tool for Genetic Analysis and Therapeutics, Fall 2004
Published 2023Subjects: Get full text
Learning Object