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

Mahim Jain

Showing results (11-20 of 56) with videos related to

Pageof 6
Sort By:
Molecular Genetics and Metabolism Reports|September 15, 2015
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in <i>TGDS</i>Rachel Pferdehirt, Mahim Jain, Maria A Blazo, et al.
Molecular Genetics and Metabolism|July 22, 2014
Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disordersLindsay C Burrage, Mahim Jain, Laura Gandolfo, et al.
Molecular Genetics and Metabolism Reports|February 10, 2025
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort studyMahim Jain, Mehul Shah, Kamlesh M Thakker, et al.
Orphanet Journal of Rare Diseases|January 25, 2025
High clinical burden of classical homocystinuria in the United States: a retrospective analysisMahim Jain, Mehul Shah, Kamlesh M Thakker, et al.
Molecular Genetics and Metabolism Reports|July 4, 2024
Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity dataMahim Jain, Mehul Shah, Kamlesh M Thakker, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
A novel SIX3 mutation segregates with holoprosencephaly in a large familyBenjamin D Solomon, Felicitas Lacbawan, Mahim Jain, et al.
JBMR Plus|September 22, 2025
Real-world data of fracture rates and musculoskeletal disorders for patients living with osteogenesis imperfectaErru Christy Yang, Osman Ciğeroğlu, Rupal N Gupta, et al.
Molecular Genetics and Metabolism Reports|July 15, 2014
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasiaChaya Murali, James T Lu, Mahim Jain, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathyMegan Abbott, Mahim Jain, Rachel Pferdehirt, et al.
JBMR Plus|March 12, 2025
Most infants with prenatal osteogenesis imperfecta diagnosis and poor prognosis survive: experience of a quaternary care osteogenesis imperfecta centerRicki S Carroll, Sarah Little, Tina McGreal, et al.
Pageof 6

Showing results (11-20 of 56) with videos related to

Sort By:
Pageof 6
Molecular Genetics and Metabolism Reports|September 15, 2015
Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in <i>TGDS</i>Rachel Pferdehirt, Mahim Jain, Maria A Blazo, et al.
Molecular Genetics and Metabolism|July 22, 2014
Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disordersLindsay C Burrage, Mahim Jain, Laura Gandolfo, et al.
Molecular Genetics and Metabolism Reports|February 10, 2025
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort studyMahim Jain, Mehul Shah, Kamlesh M Thakker, et al.
Orphanet Journal of Rare Diseases|January 25, 2025
High clinical burden of classical homocystinuria in the United States: a retrospective analysisMahim Jain, Mehul Shah, Kamlesh M Thakker, et al.
Molecular Genetics and Metabolism Reports|July 4, 2024
Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity dataMahim Jain, Mehul Shah, Kamlesh M Thakker, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
A novel SIX3 mutation segregates with holoprosencephaly in a large familyBenjamin D Solomon, Felicitas Lacbawan, Mahim Jain, et al.
JBMR Plus|September 22, 2025
Real-world data of fracture rates and musculoskeletal disorders for patients living with osteogenesis imperfectaErru Christy Yang, Osman Ciğeroğlu, Rupal N Gupta, et al.
Molecular Genetics and Metabolism Reports|July 15, 2014
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasiaChaya Murali, James T Lu, Mahim Jain, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathyMegan Abbott, Mahim Jain, Rachel Pferdehirt, et al.
JBMR Plus|March 12, 2025
Most infants with prenatal osteogenesis imperfecta diagnosis and poor prognosis survive: experience of a quaternary care osteogenesis imperfecta centerRicki S Carroll, Sarah Little, Tina McGreal, et al.
Pageof 6