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Darrel Waggoner

Showing results (11-20 of 33) with videos related to

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Genes & Diseases|March 12, 2016
Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2Sarah M Lyon, Darrel Waggoner, Sara Halbach, et al.
Pediatric Dermatology|October 28, 2008
Microphthalmia with linear skin defects: a case report and reviewVishakha M Sharma, Arlene M Ruiz de Luzuriaga, Darrel Waggoner, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequenceElizabeth Bhoj, Sara Halbach, Donna McDonald-McGinn, et al.
Hormone Research in Paediatrics|March 3, 2017
The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)
Siri Atma W Greeley, Elizabeth Littlejohn, Aliya N Husain, et al.
Case Reports in Genetics|May 11, 2017
Pathogenic Variant in <i>ACTB</i>, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline MalformationErin Conboy, Filippo Vairo, Darrel Waggoner, et al.
Pediatric Annals|December 13, 2019
A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic FeaturesDiboro Kanabolo, Joseph Rodriguez, Darrel Waggoner, et al.
Neuromuscular Disorders : NMD|March 6, 2007
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complexHeather MacLeod, Peter Pytel, Robert Wollmann, et al.
Journal of the Endocrine Society|March 3, 2022
Novel <i>KDM6A</i> Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMOMaria V Salguero, Karen Chan, Siri Atma W Greeley, et al.
Circulation. Cardiovascular Genetics|July 19, 2013
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite populationBrenda Gerull, Florian Kirchner, Jessica X Chong, et al.
Circulation. Cardiovascular Genetics|December 25, 2009
Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculationLisa M Dellefave, Peter Pytel, Stephanie Mewborn, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Genes & Diseases|March 12, 2016
Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2Sarah M Lyon, Darrel Waggoner, Sara Halbach, et al.
Pediatric Dermatology|October 28, 2008
Microphthalmia with linear skin defects: a case report and reviewVishakha M Sharma, Arlene M Ruiz de Luzuriaga, Darrel Waggoner, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequenceElizabeth Bhoj, Sara Halbach, Donna McDonald-McGinn, et al.
Hormone Research in Paediatrics|March 3, 2017
The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)
Siri Atma W Greeley, Elizabeth Littlejohn, Aliya N Husain, et al.
Case Reports in Genetics|May 11, 2017
Pathogenic Variant in <i>ACTB</i>, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline MalformationErin Conboy, Filippo Vairo, Darrel Waggoner, et al.
Pediatric Annals|December 13, 2019
A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic FeaturesDiboro Kanabolo, Joseph Rodriguez, Darrel Waggoner, et al.
Neuromuscular Disorders : NMD|March 6, 2007
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complexHeather MacLeod, Peter Pytel, Robert Wollmann, et al.
Journal of the Endocrine Society|March 3, 2022
Novel <i>KDM6A</i> Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMOMaria V Salguero, Karen Chan, Siri Atma W Greeley, et al.
Circulation. Cardiovascular Genetics|July 19, 2013
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite populationBrenda Gerull, Florian Kirchner, Jessica X Chong, et al.
Circulation. Cardiovascular Genetics|December 25, 2009
Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculationLisa M Dellefave, Peter Pytel, Stephanie Mewborn, et al.
Pageof 4