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

Pedro A Sanchez

Showing results (61-70 of 100) with videos related to

Pageof 10
Sort By:
Brain : a Journal of Neurology|March 28, 2012
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severityGisele E Ishak, Jennifer C Dempsey, Dennis W W Shaw, et al.
Human Mutation|July 26, 2012
ALX4 gain-of-function mutations in nonsyndromic craniosynostosisGarima Yagnik, Apar Ghuman, Sundon Kim, et al.
Frontiers in Pharmacology|January 4, 2021
Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental DelayXianru Jiao, Manuela Morleo, Vincenzo Nigro, et al.
American Journal of Medical Genetics. Part A|June 4, 2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypesFilomena Pirozzi, Benson Lee, Nicole Horsley, et al.
Molecular Genetics and Metabolism|June 6, 2008
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseasesMatthew A Deardorff, Himabindu Gaddipati, Paige Kaplan, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping casesSamantha A Schrier, Joann N Bodurtha, Barbara Burton, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Genetic risk factors for orofacial clefts in Central Africans and Southeast AsiansJane C Figueiredo, Stephanie Ly, Haley Raimondi, et al.
The Journal of Molecular Diagnostics : JMD|May 8, 2016
A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their FamiliesWenhui L Li, Jonathan Buckley, Pedro A Sanchez-Lara, et al.
Neurology. Genetics|February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity AssaySilvestre Cuinat, Paul Rollier, Katheryn Grand, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndromeClara C Hildebrandt, Nisha Patel, John M Graham, et al.
Pageof 10

Showing results (61-70 of 100) with videos related to

Sort By:
Pageof 10
Brain : a Journal of Neurology|March 28, 2012
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severityGisele E Ishak, Jennifer C Dempsey, Dennis W W Shaw, et al.
Human Mutation|July 26, 2012
ALX4 gain-of-function mutations in nonsyndromic craniosynostosisGarima Yagnik, Apar Ghuman, Sundon Kim, et al.
Frontiers in Pharmacology|January 4, 2021
Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental DelayXianru Jiao, Manuela Morleo, Vincenzo Nigro, et al.
American Journal of Medical Genetics. Part A|June 4, 2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypesFilomena Pirozzi, Benson Lee, Nicole Horsley, et al.
Molecular Genetics and Metabolism|June 6, 2008
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseasesMatthew A Deardorff, Himabindu Gaddipati, Paige Kaplan, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping casesSamantha A Schrier, Joann N Bodurtha, Barbara Burton, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Genetic risk factors for orofacial clefts in Central Africans and Southeast AsiansJane C Figueiredo, Stephanie Ly, Haley Raimondi, et al.
The Journal of Molecular Diagnostics : JMD|May 8, 2016
A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their FamiliesWenhui L Li, Jonathan Buckley, Pedro A Sanchez-Lara, et al.
Neurology. Genetics|February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity AssaySilvestre Cuinat, Paul Rollier, Katheryn Grand, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndromeClara C Hildebrandt, Nisha Patel, John M Graham, et al.
Pageof 10