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Author/Creator Meeks, Naomi J. L.

2. A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia. (May 2021)

Authors:
Finn, Erin; Kripps, Kimberly; Chambers, Christina; Rapp, Michele; Meeks, Naomi J. L.; Xu, Fang; Chen, Wuyan; Larson, Austin A.; Nokoff, Natalie J.
Journal:
Journal of investigative medicine high impact case reports
Issue:
Volume 9(2021)
Page Start:
Record Type:
Journal Article
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3. Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder. Issue 7 (22nd June 2020)

Authors:
Tian, Lin H.; Wiggins, Lisa D.; Schieve, Laura A.; Yeargin‐Allsopp, Marshalyn; Dietz, Patricia; Aylsworth, Arthur S.; Elias, Ellen R.; Hoover‐Fong, Julie E.; Meeks, Naomi J. L.; Souders, Margaret C.; Tsai, Anne C.‐H.; Zackai, Elaine H.; Alexander, Aimee A.; Dowling, Nicole F.; Shapira, Stuart K.
Journal:
Autism research
Issue:
Volume 13:Issue 7(2020)
Page Start:
1227
Record Type:
Journal Article
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4. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. Issue 2 (22nd February 2019)

Authors:
Coughlin, Curtis R.; Swanson, Michael A.; Spector, Elaine; Meeks, Naomi J. L.; Kronquist, Kathryn E.; Aslamy, Mezhgan; Wempe, Michael F.; van Karnebeek, Clara D. M.; Gospe, Sidney M.; Aziz, Verena G.; Tsai, Becky P.; Gao, Hanlin; Nagy, Peter L.; Hyland, Keith; van Dooren, Silvy J. M.; Salomons, G...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 2(2019)
Page Start:
353
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗