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Lauren Lulis
Lauren Lulis
Children's Hospital of Philadelphia
Missense mutation
Medicine
Genetics
Mitochondrial encephalomyopathy
Hypotonia
3
Papers
34
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Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
2021
American Journal of Medical Genetics Part A
Katheryn Grand
Cara M. Skraban
Jennifer L Cohen
Leah Dowsett
Sarah Mazzola
Jennifer Tarpinian
Emma Bedoukian
Addie I. Nesbitt
Beth Denenberg
Lauren Lulis
Avni Santani
Elaine H. Zackai
Matthew A Deardorff
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Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
2017
Leah Dowsett
Lauren Lulis
Can Ficicioglu
Sanmati Cuddapah
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Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
2015
Journal of Medical Genetics
Wendy K. Chung
Kimberly Martin
Chaim Jalas
Stephen R. Braddock
Jane Juusola
Kristin G. Monaghan
Barbara B. Warner
Samuel Franks
Marc Yudkoff
Lauren Lulis
Roy H. Rhodes
Vinay Prasad
Erin Torti
Megan T. Cho
Marwan Shinawi
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Citations (34)
1