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Cathy A Stevens

Showing results (21-30 of 43) with videos related to

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Journal of Medical Genetics|October 9, 2012
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo eventsWeimin Bi, Frank J Probst, Joanna Wiszniewska, et al.
Journal of Medical Genetics|January 29, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein Daoud, Martine Tétreault, William Gibson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2019
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnosesErica D Smith, Kirsten Blanco, Samin A Sajan, et al.
Molecular Genetics and Metabolism|January 14, 2011
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephalyEmily F Kauvar, Ping Hu, Daniel E Pineda-Alvarez, et al.
American Journal of Medical Genetics. Part A|October 12, 2013
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disordersDenny Schanze, Magdalena Harakalova, Cathy A Stevens, et al.
JIMD Reports|August 18, 2018
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsBobby G Ng, Hunter R Underhill, Lars Palm, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, et al.
Prenatal Diagnosis|August 26, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletionsCourtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, et al.
Brain : a Journal of Neurology|March 11, 2021
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disordersYousra El Ghaleb, Pauline E Schneeberger, Monica L Fernández-Quintero, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathyLauren B Carter, Agatino Battaglia, Athena Cherry, et al.
Pageof 5

Showing results (21-30 of 43) with videos related to

Sort By:
Pageof 5
Journal of Medical Genetics|October 9, 2012
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo eventsWeimin Bi, Frank J Probst, Joanna Wiszniewska, et al.
Journal of Medical Genetics|January 29, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein Daoud, Martine Tétreault, William Gibson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2019
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnosesErica D Smith, Kirsten Blanco, Samin A Sajan, et al.
Molecular Genetics and Metabolism|January 14, 2011
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephalyEmily F Kauvar, Ping Hu, Daniel E Pineda-Alvarez, et al.
American Journal of Medical Genetics. Part A|October 12, 2013
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disordersDenny Schanze, Magdalena Harakalova, Cathy A Stevens, et al.
JIMD Reports|August 18, 2018
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsBobby G Ng, Hunter R Underhill, Lars Palm, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Deepika D'Cunha Burkardt, Jill A Rosenfeld, Maria L Helgeson, et al.
Prenatal Diagnosis|August 26, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletionsCourtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, et al.
Brain : a Journal of Neurology|March 11, 2021
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disordersYousra El Ghaleb, Pauline E Schneeberger, Monica L Fernández-Quintero, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathyLauren B Carter, Agatino Battaglia, Athena Cherry, et al.
Pageof 5