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

John M Graham

Showing results (101-110 of 208) with videos related to

Pageof 21
Sort By:
Human Genome Variation|April 16, 2016
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactylyIngrid M Wentzensen, Jennifer J Johnston, John H Patton, et al.
American Journal of Medical Genetics. Part A|October 14, 2003
A tribute to Bryan D. Hall: Festschrift 2003John C Carey, Cynthia J R Curry, Arthur W Grix, et al.
Annals of Clinical and Translational Neurology|September 26, 2018
<i>FARS2</i> mutations presenting with pure spastic paraplegia and lesions of the dentate nucleiSupreet K Sahai, Rebecca E Steiner, Margaret G Au, et al.
The Journal of Pediatrics|May 14, 2019
Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome SequencingJeremy D Woods, Kurlen S E Payton, Pedro A Sanchez-Lara, et al.
American Journal of Medical Genetics. Part A|September 4, 2007
Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1Nithiwat Vatanavicharn, John M Graham, Cynthia J Curry, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 19, 2019
The NuRD complex and macrocephaly associated neurodevelopmental disordersTyler Mark Pierson, Maria G Otero, Katheryn Grand, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndromeJohn M Graham, Nancy Kramer, Bassem A Bejjani, et al.
European Journal of Medical Genetics|September 18, 2014
19q13.32 microdeletion syndrome: three new casesAngela Castillo, Nancy Kramer, Charles E Schwartz, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2Areeg H El-Gharbawy, Joseph N Peeden, Ralph S Lachman, et al.
Prenatal Diagnosis|April 13, 2012
Male genital abnormalities in intrauterine growth restrictionStefan F Nemec, Ursula Nemec, Peter C Brugger, et al.
Pageof 21

Showing results (101-110 of 208) with videos related to

Sort By:
Pageof 21
Human Genome Variation|April 16, 2016
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactylyIngrid M Wentzensen, Jennifer J Johnston, John H Patton, et al.
American Journal of Medical Genetics. Part A|October 14, 2003
A tribute to Bryan D. Hall: Festschrift 2003John C Carey, Cynthia J R Curry, Arthur W Grix, et al.
Annals of Clinical and Translational Neurology|September 26, 2018
<i>FARS2</i> mutations presenting with pure spastic paraplegia and lesions of the dentate nucleiSupreet K Sahai, Rebecca E Steiner, Margaret G Au, et al.
The Journal of Pediatrics|May 14, 2019
Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome SequencingJeremy D Woods, Kurlen S E Payton, Pedro A Sanchez-Lara, et al.
American Journal of Medical Genetics. Part A|September 4, 2007
Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1Nithiwat Vatanavicharn, John M Graham, Cynthia J Curry, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 19, 2019
The NuRD complex and macrocephaly associated neurodevelopmental disordersTyler Mark Pierson, Maria G Otero, Katheryn Grand, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndromeJohn M Graham, Nancy Kramer, Bassem A Bejjani, et al.
European Journal of Medical Genetics|September 18, 2014
19q13.32 microdeletion syndrome: three new casesAngela Castillo, Nancy Kramer, Charles E Schwartz, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2Areeg H El-Gharbawy, Joseph N Peeden, Ralph S Lachman, et al.
Prenatal Diagnosis|April 13, 2012
Male genital abnormalities in intrauterine growth restrictionStefan F Nemec, Ursula Nemec, Peter C Brugger, et al.
Pageof 21