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Livija Medne

Showing results (1-10 of 82) with videos related to

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American Journal of Medical Genetics. Part A|September 4, 2010
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24Zahid Ahmad, Elaine Zackai, Livija Medne, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|March 25, 2014
Confirming an expanded spectrum of SCN2A mutations: a case seriesDena Matalon, Ethan Goldberg, Livija Medne, et al.
American Journal of Medical Genetics. Part A|August 23, 2005
DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic motherRalph J DeBerardinis, Livija Medne, Nancy B Spinner, et al.
American Journal of Medical Genetics. Part A|July 17, 2009
Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four casesSmita M Purandare, Linda Ernst, Livija Medne, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromesJodi D Hoffman, Mira Irons, Charles E Schwartz, et al.
Pediatric Dermatology|July 22, 2017
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case ReportJiaDe Yu, Jenna L Streicher, Livija Medne, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6BHung-Chun Yu, Elizabeth A Geiger, Livija Medne, et al.
American Journal of Medical Genetics. Part A|April 4, 2003
Crane-Heise syndrome: a second familial case report with elaboration of phenotypeDina J Zand, David Carpentieri, Dale Huff, et al.
Muscle & Nerve|October 19, 2011
Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD geneKevin M Flanigan, Diane Dunn, C Aaron Larsen, et al.
American Journal of Medical Genetics. Part A|October 26, 2020
Variants in NAA15 cause pediatric hypertrophic cardiomyopathyAlyssa Ritter, Justin H Berger, Matthew Deardorff, et al.
Pageof 9

Showing results (1-10 of 82) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|September 4, 2010
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24Zahid Ahmad, Elaine Zackai, Livija Medne, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|March 25, 2014
Confirming an expanded spectrum of SCN2A mutations: a case seriesDena Matalon, Ethan Goldberg, Livija Medne, et al.
American Journal of Medical Genetics. Part A|August 23, 2005
DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic motherRalph J DeBerardinis, Livija Medne, Nancy B Spinner, et al.
American Journal of Medical Genetics. Part A|July 17, 2009
Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four casesSmita M Purandare, Linda Ernst, Livija Medne, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromesJodi D Hoffman, Mira Irons, Charles E Schwartz, et al.
Pediatric Dermatology|July 22, 2017
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case ReportJiaDe Yu, Jenna L Streicher, Livija Medne, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6BHung-Chun Yu, Elizabeth A Geiger, Livija Medne, et al.
American Journal of Medical Genetics. Part A|April 4, 2003
Crane-Heise syndrome: a second familial case report with elaboration of phenotypeDina J Zand, David Carpentieri, Dale Huff, et al.
Muscle & Nerve|October 19, 2011
Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD geneKevin M Flanigan, Diane Dunn, C Aaron Larsen, et al.
American Journal of Medical Genetics. Part A|October 26, 2020
Variants in NAA15 cause pediatric hypertrophic cardiomyopathyAlyssa Ritter, Justin H Berger, Matthew Deardorff, et al.
Pageof 9