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Volume 15 | Issue 1 | January to March 2022 |
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GeNeDit |
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| January to March 2022| Vol 15 | Issue 1 | Page No 01 | |||
| Completing the Human Genome Project: Filling in the gaps | |||
| The Human Genome Project was declared to have been completed in 2003. Since then, we geneticists are using the data on a regular basis for genetic diagnosis. High throughput technology has made the diagnosis of monogenic disorders very easy, and... Dr. Shubha Phadke |
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PhotoQuiz |
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| January to March 2022| Vol 15 | Issue 1 | Coverpage | ||||
| PhotoQuiz-55 | ||||
| This 12-year-old male child, of normal height and intellect, was referred for evaluation of painless hard swellings on the limbs, especially near the joints...
Dr Shubha Phadke |
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Clinical Vignette |
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| January to March 2022| Vol 15 | Issue 1 | Page No 02-05 | ||||||||
| Recurrent Non-immune Hydrops and Epiphyseal Stippling in Fetuses Affected with Infantile Sialic Acid Storage Disease | ||||||||
| This is the report of a woman with two pregnancies, subsequently terminated, for fetuses presenting with non-immune hydrops, and infantogram showing extensive bone stippling. Clinical exome sequencing was carried out in the DNA banked from one of the affected fetuses. This identified ...
Sumita Danda1, Manisha Madhai Beck2, Swati Rathore2 |
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GeNeViSTA |
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| January to March 2022| Vol 15 | Issue 1 | Page No 06-16 | ||||||
| An Overview of the Genetic Basis and Clinical Approach for Peroxisomal Disorders | ||||||
| Peroxisomal disorders are a rare heterogeneous group of inherited inborn errors of metabolism. Most of the peroxisomal disorders manifest in neonatal, infantile, and childhood periods. There are certain intricacies in diagnosing peroxisomal disorders due to overlapping phenotypes, complex biochemical tests, clinical... Gayatri Nerakh |
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GeNeXprESS |
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| January to March 2022| Vol 15 | Issue 1 | Page No 17-18 | ||||||
| A New and Exciting Era of Genomics: No Region is Beyond Reach | ||||||
| Publication of initial drafts of the human genome by Celera Genomics and the International Human Genome Sequencing Consortium in 2001 revolutionized the field of genetics. Still, the current Genome Reference Consortium assembly (GRCh38.p13) contains several unsolvable gaps which include... Haseena Sait |
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GeNeFocus |
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| January to March 2022| Vol 15 | Issue 1 | Page No 19 | |||||
| The Emergence of Clinical Genomics and Genomic Medicine Across India: The Role of the UK-India Genomic Medicine Alliance | |||||
| Genomic applications in precision medicine and healthcare are now globally recognised with huge public and private investments. The United Kingdom (UK)-India Genomic Medicine Alliance (UKIGMA) offers a unique opportunity for clinicians and scientists from UK and India... Dhavendra Kumar |
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