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Author/Creator Stolerman, Elliot S.

1. Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. Issue 7 (23rd May 2019)

Authors:
Stolerman, Elliot S.; Francisco, Elizabeth; Stallworth, Jennifer L.; Jones, Julie R.; Monaghan, Kristin G.; Keller‐Ramey, Jennifer; Person, Richard; Wentzensen, Ingrid M.; McWalter, Kirsty; Keren, Boris; Heron, Benedicte; Nava, Caroline; Heron, Delphine; Kim, Katherine; Burton, Barbara; Al‐Musafr...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 7(2019)
Page Start:
1276
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features. Issue 4 (16th July 2021)

Authors:
Tenorio‐Castaño, Jair Antonio; Arias, Pedro; Fernández‐Jaén, Alberto; Lay‐Son, Guillermo; Bueno‐Lozano, Gloria; Bayat, Allan; Faivre, Laurence; Gallego, Natalia; Ramos, Sergio; Butler, Kameryn M.; Morel, Chantal; Hadjiyannakis, Stasia; Lespinasse, James; Tran‐Mau‐Them, Frederic; Santos‐Simarro, F...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 4(2021)
Page Start:
405
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy. Issue 4 (7th April 2023)

Authors:
Washington, Camerun; Stolerman, Elliot S.; Cooley‐Coleman, Jessica A.; Jones, Julie R.; Chen‐Deutsch, Xiangwen
Journal:
Clinical case reports
Issue:
Volume 11:Issue 4(2023)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗