Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort

by Nikhat Khan, Anuja Lipsa, Gautham Arunachal, Mukta Ramadwar, Rajiv Sarin
Published 2017-05-01

Hajdu Cheney Syndrome

by Shini Susan Samuel, Shrinath Shetty, Gautham Arunachal, Santosh Koshy, Thomas Vizhalil Paul
Published 2016-02-01

Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis

by Swati Rathore, Liji Sarah David, Manisha Madhai Beck, Mandeep Singh Bindra, Gautham Arunachal
Published 2015-11-01

Electroencephalography as a Diagnostic Aid in a Girl with Neuroregression and Stereotypies

by Debjyoti Dhar, Hansashree Padmanabha, Pooja Mailankody, Sadanandavalli R. Chandra, Gautham Arunachal, Praveen Sharma P.
Published 2020-04-01

Menkes disease and response to copper histidine: An Indian case series

by Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
Published 2017-01-01

Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

by Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya Valsa Sudhakar, Samuel Philip Oommen, Sumita Danda
Published 2020-01-01

Metabolic or ischemic stroke in succinic semi-aldehyde dehydrogenase deficiency due to the homozygous variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1

by Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya V Sudhakar, Samuel P Oommen, Sumita Danda
Published 2021-01-01

Attenuated form of glycine encephalopathy: An unusual cause of neurodevelopmental disorder

by Sangeetha Yoganathan, Rangan Srinivasaraghavan, Mahalakshmi Chandran, Lisa Kratz, Beena Koshy, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Sumita Danda
Published 2021-01-01

Guanidinoacetate methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder

by Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Sniya Valsa Sudhakar, Samuel Philip Oommen, Shikha Jain, Maya Thomas, Manimegalai Babuji
Published 2020-01-01