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Jillian R Ozmore

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Case Reports in Neurological Medicine|September 10, 2020
A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic ParaplegiaNathaniel M Robbins, Jillian R Ozmore, Thomas L Winder, et al.
Biochemistry|July 19, 2006
Initial transcribed sequence mutations specifically affect promoter escape propertiesLilian M Hsu, Ingrid M Cobb, Jillian R Ozmore, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
Case Reports in Neurological Medicine|September 10, 2020
A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic ParaplegiaNathaniel M Robbins, Jillian R Ozmore, Thomas L Winder, et al.
Biochemistry|July 19, 2006
Initial transcribed sequence mutations specifically affect promoter escape propertiesLilian M Hsu, Ingrid M Cobb, Jillian R Ozmore, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.
Pageof 1