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American Journal of Medical Genetics. Part A|April 6, 2011
PTPN11 gene mutation associated with abnormal gonadal determinationShailly Jain Ghai, Sarah Keating, David Chitayat
Endocrinology, Diabetes & Metabolism Case Reports|March 29, 2023
First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiencyValerie Lai, Mariam Shahidi, Alicia Chan, et al.
European Journal of Medical Genetics|March 8, 2011
Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6Shailly Jain Ghai, Mary Shago, Manohar Shroff, et al.
European Journal of Medical Genetics|November 5, 2022
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7Marissa L Ledger, Milja Kaare, Janette A Mailo, et al.
Pediatrics|March 26, 2014
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patientShailly Jain-Ghai, Navin Mishra, Cecil Hahn, et al.
Molecular Genetics and Metabolism|August 2, 2011
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?Shailly Jain-Ghai, Sandesh C Sreenath Nagamani, Susan Blaser, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Complex II deficiency--a case report and review of the literatureShailly Jain-Ghai, Jessie M Cameron, Almundher Al Maawali, et al.
Orphanet Journal of Rare Diseases|November 13, 2024
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genomeAnastasia Ambrose, Shalini Bahl, Saloni Sharma, et al.
Molecular Genetics and Metabolism Reports|May 17, 2021
Hyperleucinosis during infections in maple syrup urine disease post liver transplantationLaura Guilder, Carlos E Prada, Sofia Saenz, et al.
Molecular Genetics and Metabolism|March 11, 2026
Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from CanadaRanda Sultan, Anastasia Ambrose, Shalini Bahl, et al.
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