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Kimberly Stepien

2PUBLICATIONS

3CO-AUTHORS

NeonatologyReproduction

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Publications (2)

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|Aug 08, 2025

Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder.

Pankaj Prasun, Elizabeth Kellom, Kimberly Stepien

|Dec 12, 2023

Male infertility may be associated with <i>IFT140</i>-related autosomal recessive retinitis pigmentosa.

Leslie Huang, Elizabeth Kellom, Kimberly Stepien

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Leslie Huang

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Elizabeth Kellom

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Pankaj Prasun

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Leslie Huang

1 joint publications

Elizabeth Kellom

1 joint publications

Pankaj Prasun

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