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Matt De Both

Showing results (11-20 of 19) with videos related to

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Plos One|July 16, 2015
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy SyndromeIsabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, et al.
Investigative Ophthalmology & Visual Science|June 20, 2015
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi SyndromeIsabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, et al.
Scientific Data|October 29, 2021
Extracellular circular RNA profiles in plasma and urine of healthy, male college athletesElizabeth Hutchins, Rebecca Reiman, Joseph Winarta, et al.
F1000Research|July 1, 2017
Case Report: Novel mutations in <i>TBC1D24</i> are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilityErika Banuelos, Keri Ramsey, Newell Belnap, et al.
Human Genetics|November 22, 2019
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)Lorida Llaci, Keri Ramsey, Newell Belnap, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotoniaAbby M Moskowitz, Newell Belnap, Ashley L Siniard, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Plos One|July 16, 2015
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy SyndromeIsabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, et al.
Investigative Ophthalmology & Visual Science|June 20, 2015
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi SyndromeIsabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, et al.
Scientific Data|October 29, 2021
Extracellular circular RNA profiles in plasma and urine of healthy, male college athletesElizabeth Hutchins, Rebecca Reiman, Joseph Winarta, et al.
F1000Research|July 1, 2017
Case Report: Novel mutations in <i>TBC1D24</i> are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilityErika Banuelos, Keri Ramsey, Newell Belnap, et al.
Human Genetics|November 22, 2019
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)Lorida Llaci, Keri Ramsey, Newell Belnap, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotoniaAbby M Moskowitz, Newell Belnap, Ashley L Siniard, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
Pageof 2