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Marilyn C Jones

Showing results (31-40 of 53) with videos related to

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Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|April 19, 2017
Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for ConcernYoona K Ho, Michelle Turley, Krishelle L Marc-Aurele, et al.
American Journal of Medical Genetics. Part A|May 31, 2007
Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysisRobin E Williamson, Keith N Darrow, Sebastien Michaud, et al.
Human Genetics|June 2, 2007
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumorEric M Jackson, Tamim H Shaikh, Sridharan Gururangan, et al.
American Journal of Medical Genetics. Part A|March 23, 2016
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 geneRasim O Rosti, Esra Dikoglu, Maha S Zaki, et al.
European Journal of Human Genetics : EJHG|May 18, 2017
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delayKarin Weiss, Kristen Wigby, Madeleine Fannemel, et al.
European Journal of Human Genetics : EJHG|June 16, 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literatureP Y Billie Au, Caitlin Goedhart, Marcia Ferguson, et al.
NPJ Genomic Medicine|February 23, 2019
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in MexicoAlicia Scocchia, Kristen M Wigby, Diane Masser-Frye, 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.
American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
American Journal of Human Genetics|October 2, 2018
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic EncephalopathyThi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M Wigby, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|April 19, 2017
Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for ConcernYoona K Ho, Michelle Turley, Krishelle L Marc-Aurele, et al.
American Journal of Medical Genetics. Part A|May 31, 2007
Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysisRobin E Williamson, Keith N Darrow, Sebastien Michaud, et al.
Human Genetics|June 2, 2007
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumorEric M Jackson, Tamim H Shaikh, Sridharan Gururangan, et al.
American Journal of Medical Genetics. Part A|March 23, 2016
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 geneRasim O Rosti, Esra Dikoglu, Maha S Zaki, et al.
European Journal of Human Genetics : EJHG|May 18, 2017
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delayKarin Weiss, Kristen Wigby, Madeleine Fannemel, et al.
European Journal of Human Genetics : EJHG|June 16, 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literatureP Y Billie Au, Caitlin Goedhart, Marcia Ferguson, et al.
NPJ Genomic Medicine|February 23, 2019
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in MexicoAlicia Scocchia, Kristen M Wigby, Diane Masser-Frye, 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.
American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
American Journal of Human Genetics|October 2, 2018
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic EncephalopathyThi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M Wigby, et al.
Pageof 6