Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jacea Deml"'
Autor:
Olaf Bodamer, Amy E. Knight Johnson, Siri Atma W. Greeley, Alejandro Diaz, Aishwarya Devarajan, Declan Cody, Daniela del Gaudio, Pratik Shah, Kai Lee Yap, Diva D De Leó-Crutchlow, Viswateja Nelakuditi, Sian Ellard, Soma Das, Lisa Truong, David Fischer, Paul S. Thornton, Lindsay C. Burrage, Priscilla Kandikatla, George S. Jeha, Andrew C. Edmondson, Jacea Deml, Sara Halbach, Valeria C Benavides, Darrel Waggoner, Andrea M. Lewis
Publikováno v:
Genetics in Medicine. 21:233-242
The author Diva D. De Leon was incorrectly listed as instead of Diva D. De Leo-Critchlow in the original version of this paper.
Autor:
Siri Atma W. Greeley, Darrel Waggoner, Viswateja Nelakuditi, Kai Lee Yap, David Fischer, Sian Ellard, Alejandro Diaz, Pratik Shah, Jacea Deml, Priscilla Kandikatla, Olaf Bodamer, Amy E. Knight Johnson, Soma Das, George S. Jeha, Andrew C. Edmondson, Andrea M. Lewis, Daniela del Gaudio, Diva D. De León, Paul S. Thornton, Sara Halbach, Lisa Truong, Valeria C Benavides, Aishwarya Devarajan, Lindsay C. Burrage, Declan Cody
Publikováno v:
Genet Med
PURPOSE: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI. METHODS: We documented the clinical
Autor:
Soma Das, Jennifer A. Lee, Amy K. Johnson, Jennifer Burton, Sandra Tremblay, Ying Ying Hu, Daniela del Gaudio, Kirsten Donato, Daniel B. Magner, Zejuan Li, Sarah E. Noon, Ian D. Krantz, Rachel Laframboise, Brett Deml, Jacea Deml, George E. Hoganson, Christian P. Schaaf, Maria Helgeson, Jennifer Keller-Ramey
Publikováno v:
Journal of Human Genetics. 63:349-356
Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account for ~70% of cases. Herein we report on four f
Autor:
Greeley Saw, Paul S. Thornton, Soma Das, el Gaudio D, Andrea M. Lewis, Sara Halbach, George S. Jeha, Valeria C Benavides, Andrew C. Edmondson, Declan Cody, Alejandro Diaz, Pratik Shah, Jacea Deml, David Fischer, Kai Lee Yap, Johnson Aek, Nelakuditi, De Leon Dd, Lindsay C. Burrage, Sian Ellard, Darrel Waggoner, Priscilla Kandikatla, Olaf Bodamer, Truong L, Aishwarya Devarajan
Publikováno v:
Yearbook of Paediatric Endocrinology.
Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI.We documented the clinical features and molecu