Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Emma L Baple

Showing results (51-60 of 93) with videos related to

Pageof 10
Sort By:
Plos Genetics|September 27, 2021
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorderZineb Ammous, Lettie E Rawlins, Hannah Jones, et al.
American Journal of Medical Genetics. Part A|March 4, 2024
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from PalestineReham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna, et al.
American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.
Neurology. Genetics|March 8, 2019
Copy number variation of <i>LINGO1</i> in familial dystonic tremorVafa Alakbarzade, Thomas Iype, Barry A Chioza, et al.
Nature Genetics|May 26, 2015
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndromeVafa Alakbarzade, Abdul Hameed, Debra Q Y Quek, et al.
Neurology. Genetics|March 28, 2018
Truncating <i>SLC5A7</i> mutations underlie a spectrum of dominant hereditary motor neuropathiesClaire G Salter, Danique Beijer, Holly Hardy, et al.
Journal of Medical Genetics|September 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable accessSian Ellard, Sian Morgan, Sarah L Wynn, et al.
Plos Genetics|March 17, 2022
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and miceLettie E Rawlins, Hashem Almousa, Shazia Khan, et al.
NPJ Genomic Medicine|January 14, 2022
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, et al.
Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.
Pageof 10

Showing results (51-60 of 93) with videos related to

Sort By:
Pageof 10
Plos Genetics|September 27, 2021
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorderZineb Ammous, Lettie E Rawlins, Hannah Jones, et al.
American Journal of Medical Genetics. Part A|March 4, 2024
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from PalestineReham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna, et al.
American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.
Neurology. Genetics|March 8, 2019
Copy number variation of <i>LINGO1</i> in familial dystonic tremorVafa Alakbarzade, Thomas Iype, Barry A Chioza, et al.
Nature Genetics|May 26, 2015
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndromeVafa Alakbarzade, Abdul Hameed, Debra Q Y Quek, et al.
Neurology. Genetics|March 28, 2018
Truncating <i>SLC5A7</i> mutations underlie a spectrum of dominant hereditary motor neuropathiesClaire G Salter, Danique Beijer, Holly Hardy, et al.
Journal of Medical Genetics|September 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable accessSian Ellard, Sian Morgan, Sarah L Wynn, et al.
Plos Genetics|March 17, 2022
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and miceLettie E Rawlins, Hashem Almousa, Shazia Khan, et al.
NPJ Genomic Medicine|January 14, 2022
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, et al.
Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.
Pageof 10