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Shagun Kaur

Boston Children's Hospital

6

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13

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Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.

2021 European Journal of Medical Genetics
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Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children’s Hospital of Michigan

2021 Molecular Genetics and Metabolism
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Management of COVID-19 infection in organic acidemias.

2021 American Journal of Medical Genetics Part A
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Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy.

2021 American Journal of Perinatology Reports
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Genetic Etiologies of Neonatal Seizures.

2020 Neoreviews
- Shagun Kaur
- Kara Pappas
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Expanding Phenotypic Spectrum of Cerebral Aspartate–Glutamate Carrier Isoform 1 (AGC1) Deficiency

2019 Neuropediatrics
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Citations (6)