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Heather C Mefford

Showing results (41-50 of 222) with videos related to

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Nature Reviews. Disease Primers|September 5, 2024
Developmental and epileptic encephalopathiesIngrid E Scheffer, Sameer Zuberi, Heather C Mefford, et al.
American Journal of Medical Genetics. Part A|June 19, 2015
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromesKelly L Jones, Ulrike Schwarze, Margaret P Adam, et al.
Prenatal Diagnosis|January 30, 2009
Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counselingRebecca L Sparkes, Shashirekha Shetty, Judy E Chernos, et al.
Epilepsia Open|March 8, 2021
Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for familiesJennifer S Jeffrey, Janet Leathem, Chontelle King, et al.
Therapeutic Advances in Rare Disease|October 11, 2024
A roadmap to cure CHD2-related disordersStephanie Prince, Emily Bonkowski, Christopher McGraw, et al.
Seizure|October 16, 2018
Dravet syndrome in South African infants: Tools for an early diagnosisAlina I Esterhuizen, Heather C Mefford, Rajkumar S Ramesar, et al.
Neurology. Genetics|July 15, 2025
The Association Between Sleep Phenotypes and Epilepsy GenesJonathan Read Gaillard, Gita Gupta, Heather C Mefford, et al.
American Journal of Medical Genetics. Part A|May 21, 2013
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsyAlexander G Bassuk, Eileen Geraghty, Shu Wu, et al.
Epilepsia|November 5, 2011
Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndromeHiltrud Muhle, Heather C Mefford, Tanja Obermeier, et al.
Epilepsy Research|November 20, 2013
Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsiesJohanna A Jähn, Sarah von Spiczak, Hiltrud Muhle, et al.
Pageof 23

Showing results (41-50 of 222) with videos related to

Sort By:
Pageof 23
Nature Reviews. Disease Primers|September 5, 2024
Developmental and epileptic encephalopathiesIngrid E Scheffer, Sameer Zuberi, Heather C Mefford, et al.
American Journal of Medical Genetics. Part A|June 19, 2015
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromesKelly L Jones, Ulrike Schwarze, Margaret P Adam, et al.
Prenatal Diagnosis|January 30, 2009
Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counselingRebecca L Sparkes, Shashirekha Shetty, Judy E Chernos, et al.
Epilepsia Open|March 8, 2021
Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for familiesJennifer S Jeffrey, Janet Leathem, Chontelle King, et al.
Therapeutic Advances in Rare Disease|October 11, 2024
A roadmap to cure CHD2-related disordersStephanie Prince, Emily Bonkowski, Christopher McGraw, et al.
Seizure|October 16, 2018
Dravet syndrome in South African infants: Tools for an early diagnosisAlina I Esterhuizen, Heather C Mefford, Rajkumar S Ramesar, et al.
Neurology. Genetics|July 15, 2025
The Association Between Sleep Phenotypes and Epilepsy GenesJonathan Read Gaillard, Gita Gupta, Heather C Mefford, et al.
American Journal of Medical Genetics. Part A|May 21, 2013
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsyAlexander G Bassuk, Eileen Geraghty, Shu Wu, et al.
Epilepsia|November 5, 2011
Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndromeHiltrud Muhle, Heather C Mefford, Tanja Obermeier, et al.
Epilepsy Research|November 20, 2013
Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsiesJohanna A Jähn, Sarah von Spiczak, Hiltrud Muhle, et al.
Pageof 23