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

Jan M Cobben

Showing results (1-10 of 24) with videos related to

Pageof 3
Sort By:
American Journal of Medical Genetics. Part A|December 14, 2022
SHORT syndrome with microcephaly and developmental delayViraj Patel, Wei Cui, Jan M Cobben
European Journal of Medical Genetics|May 14, 2014
Pectus excavatum and carinatumJan M Cobben, Roelof-Jan Oostra, Fleur S van Dijk
Journal of Hepatology|December 15, 2015
A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertensionBart G P Koot, Marielle Alders, Joanne Verheij, et al.
European Journal of Medical Genetics|August 1, 2017
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosisFleur S van Dijk, Grazia M S Mancini, Alessandra Maugeri, et al.
Human Genetics|November 8, 2003
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1Ina Vandenbroucke, Remco van Doorn, Tom Callens, et al.
Journal of Child Neurology|September 15, 2016
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement DisorderLeonie A Menke, Marc Engelen, Mariel Alders, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 24, 2012
[Osteogenesis imperfecta: clinical and genetic heterogeneity]Fleur S van Dijk, Jan M Cobben, Alessandra Maugeri, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathyMariet Elting, Ariana Kariminejad, Marie-Louise de Sonnaville, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|February 29, 2012
Long-term follow-up after bilateral Artisan aphakia intraocular lens implantation in two children with Marfan syndromeMarije L Sminia, Monica T P Odenthal, Liesbeth J J M Prick, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|October 16, 2010
Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findingsFleur S van Dijk, Peter G J Nikkels, Nicolette S den Hollander, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|December 14, 2022
SHORT syndrome with microcephaly and developmental delayViraj Patel, Wei Cui, Jan M Cobben
European Journal of Medical Genetics|May 14, 2014
Pectus excavatum and carinatumJan M Cobben, Roelof-Jan Oostra, Fleur S van Dijk
Journal of Hepatology|December 15, 2015
A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertensionBart G P Koot, Marielle Alders, Joanne Verheij, et al.
European Journal of Medical Genetics|August 1, 2017
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosisFleur S van Dijk, Grazia M S Mancini, Alessandra Maugeri, et al.
Human Genetics|November 8, 2003
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1Ina Vandenbroucke, Remco van Doorn, Tom Callens, et al.
Journal of Child Neurology|September 15, 2016
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement DisorderLeonie A Menke, Marc Engelen, Mariel Alders, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 24, 2012
[Osteogenesis imperfecta: clinical and genetic heterogeneity]Fleur S van Dijk, Jan M Cobben, Alessandra Maugeri, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathyMariet Elting, Ariana Kariminejad, Marie-Louise de Sonnaville, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|February 29, 2012
Long-term follow-up after bilateral Artisan aphakia intraocular lens implantation in two children with Marfan syndromeMarije L Sminia, Monica T P Odenthal, Liesbeth J J M Prick, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|October 16, 2010
Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findingsFleur S van Dijk, Peter G J Nikkels, Nicolette S den Hollander, et al.
Pageof 3