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Author/Creator Escobar, Luis F.

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) ↗

5. Investigation of NRXN1 deletions: Clinical and molecular characterization12. Issue 4 (12th March 2013)

Authors:
Dabell, Mindy Preston; Rosenfeld, Jill A.; Bader, Patricia; Escobar, Luis F.; El‐Khechen, Dima; Vallee, Stephanie E.; Dinulos, Mary Beth Palko; Curry, Cynthia; Fisher, Jamie; Tervo, Raymond; Hannibal, Mark C.; Siefkas, Kiana; Wyatt, Philip R.; Hughes, Lauren; Smith, Rosemarie; Ellingwood, Sara; L...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 4(2013:Apr.)
Page Start:
717
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗