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

Eugenio Zapata-Aldana

Showing results (1-10 of 15) with videos related to

Pageof 2
Sort By:
Journal of Neuromuscular Diseases|July 17, 2018
Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic DystrophyEugenio Zapata-Aldana, Delia Ceballos-Sáenz, Rhiannon Hicks, et al.
American Journal of Medical Genetics. Part A|April 3, 2019
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian familyEugenio Zapata-Aldana, Sulaiman B Al-Mobarak, Natalya Karp, et al.
Clinical Dysmorphology|November 2, 2020
Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorumMahmoud Almutadares, Jane Evans, Elizabeth Sellers, et al.
European Journal of Medical Genetics|September 1, 2022
"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma"Benjamín Cárcamo, Barbara Masotto, Anna Baquero-Vaquer, et al.
Muscle & Nerve|May 11, 2019
Body composition in patients with congenital myotonic dystrophyDelia Ceballos-Sáenz, Eugenio Zapata-Aldana, Stephanie Singeris, et al.
European Journal of Medical Genetics|August 14, 2018
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3Eugenio Zapata-Aldana, David Dongkyung Kim, Salma Remtulla, et al.
Clinical Genetics|May 11, 2023
Pigmentation abnormalities in Coffin-Siris syndromeEugenio Zapata-Aldana, Delia Ceballos-Sáenz, Jorge Rodrigo Vásquez-Ríos, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 4, 2020
Genetic Testing in Children with Epilepsy: Report of a Single-Center ExperienceSo Lee, Natalya Karp, Eugenio Zapata-Aldana, et al.
Journal of Neuromuscular Diseases|June 23, 2019
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacksMadhavi Prasad, Michael Glueck, Delia Ceballos-Saenz, et al.
Neuromuscular Disorders : NMD|November 6, 2016
Pharmacological therapy for the prevention and management of cardiomyopathy in Duchenne muscular dystrophy: A systematic reviewBasmah El-Aloul, Luis Altamirano-Diaz, Eugenio Zapata-Aldana, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Journal of Neuromuscular Diseases|July 17, 2018
Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic DystrophyEugenio Zapata-Aldana, Delia Ceballos-Sáenz, Rhiannon Hicks, et al.
American Journal of Medical Genetics. Part A|April 3, 2019
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian familyEugenio Zapata-Aldana, Sulaiman B Al-Mobarak, Natalya Karp, et al.
Clinical Dysmorphology|November 2, 2020
Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorumMahmoud Almutadares, Jane Evans, Elizabeth Sellers, et al.
European Journal of Medical Genetics|September 1, 2022
"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma"Benjamín Cárcamo, Barbara Masotto, Anna Baquero-Vaquer, et al.
Muscle & Nerve|May 11, 2019
Body composition in patients with congenital myotonic dystrophyDelia Ceballos-Sáenz, Eugenio Zapata-Aldana, Stephanie Singeris, et al.
European Journal of Medical Genetics|August 14, 2018
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3Eugenio Zapata-Aldana, David Dongkyung Kim, Salma Remtulla, et al.
Clinical Genetics|May 11, 2023
Pigmentation abnormalities in Coffin-Siris syndromeEugenio Zapata-Aldana, Delia Ceballos-Sáenz, Jorge Rodrigo Vásquez-Ríos, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 4, 2020
Genetic Testing in Children with Epilepsy: Report of a Single-Center ExperienceSo Lee, Natalya Karp, Eugenio Zapata-Aldana, et al.
Journal of Neuromuscular Diseases|June 23, 2019
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacksMadhavi Prasad, Michael Glueck, Delia Ceballos-Saenz, et al.
Neuromuscular Disorders : NMD|November 6, 2016
Pharmacological therapy for the prevention and management of cardiomyopathy in Duchenne muscular dystrophy: A systematic reviewBasmah El-Aloul, Luis Altamirano-Diaz, Eugenio Zapata-Aldana, et al.
Pageof 2