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Nicole J Boczek

Showing results (1-10 of 53) with videos related to

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Herzschrittmachertherapie & Elektrophysiologie|September 21, 2012
The molecular autopsy: an indispensable step following sudden cardiac death in the young?Nicole J Boczek, David J Tester, Michael J Ackerman
Reviews in the Neurosciences|May 28, 2011
Stressing zebrafish for behavioral geneticsKarl J Clark, Nicole J Boczek, Stephen C Ekker
Pediatrics|May 22, 2013
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndromeKeith A Dufendach, John R Giudicessi, Nicole J Boczek, et al.
Heart Rhythm|December 3, 2014
CALM3 mutation associated with long QT syndromeGriffin J Reed, Nicole J Boczek, Susan P Etheridge, et al.
Clinical Chemistry|July 2, 2020
Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome SequencingJaime L Lopes, Kristen J Rasmussen, Nikita Mehta, et al.
RNA Biology|May 3, 2011
LSINCT5 is over expressed in breast and ovarian cancer and affects cellular proliferationJessica M Silva, Nicole J Boczek, Michael W Berres, et al.
Child Neurology Open|October 29, 2020
Expansion of <i>PURA</i>-Related Phenotypes and Discovery of a Novel PURA Variant: A Case ReportNicole J Boczek, Erica L Macke, Jennifer Kemppainen, et al.
Case Reports in Genetics|May 20, 2016
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)Abhisek Swaika, Nicole J Boczek, Neha Sood, et al.
Neurogenetics|November 5, 2025
CADASIL-like cerebral vasculopathy in a patient with a heterozygous MYBPC3 likely pathogenic splice site variantEhab Harahsheh, Bukola A Olarewaju, Deanna M Weaver, et al.
American Journal of Ophthalmology Case Reports|January 13, 2023
Alström syndrome caused by maternal uniparental disomyMadeline Q R Lopour, Lisa A Schimmenti, Nicole J Boczek, et al.
Pageof 6

Showing results (1-10 of 53) with videos related to

Sort By:
Pageof 6
Herzschrittmachertherapie & Elektrophysiologie|September 21, 2012
The molecular autopsy: an indispensable step following sudden cardiac death in the young?Nicole J Boczek, David J Tester, Michael J Ackerman
Reviews in the Neurosciences|May 28, 2011
Stressing zebrafish for behavioral geneticsKarl J Clark, Nicole J Boczek, Stephen C Ekker
Pediatrics|May 22, 2013
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndromeKeith A Dufendach, John R Giudicessi, Nicole J Boczek, et al.
Heart Rhythm|December 3, 2014
CALM3 mutation associated with long QT syndromeGriffin J Reed, Nicole J Boczek, Susan P Etheridge, et al.
Clinical Chemistry|July 2, 2020
Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome SequencingJaime L Lopes, Kristen J Rasmussen, Nikita Mehta, et al.
RNA Biology|May 3, 2011
LSINCT5 is over expressed in breast and ovarian cancer and affects cellular proliferationJessica M Silva, Nicole J Boczek, Michael W Berres, et al.
Child Neurology Open|October 29, 2020
Expansion of <i>PURA</i>-Related Phenotypes and Discovery of a Novel PURA Variant: A Case ReportNicole J Boczek, Erica L Macke, Jennifer Kemppainen, et al.
Case Reports in Genetics|May 20, 2016
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)Abhisek Swaika, Nicole J Boczek, Neha Sood, et al.
Neurogenetics|November 5, 2025
CADASIL-like cerebral vasculopathy in a patient with a heterozygous MYBPC3 likely pathogenic splice site variantEhab Harahsheh, Bukola A Olarewaju, Deanna M Weaver, et al.
American Journal of Ophthalmology Case Reports|January 13, 2023
Alström syndrome caused by maternal uniparental disomyMadeline Q R Lopour, Lisa A Schimmenti, Nicole J Boczek, et al.
Pageof 6