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

J Tolmie

Showing results (21-30 of 30) with videos related to

Pageof 3
Sort By:
You have reached the last page of results.This site can display upto 30 results.
Journal of Medical Genetics|April 14, 2006
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patientsH L Archer, J Evans, S Edwards, et al.
Clinical Genetics|August 21, 2012
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndromeS Banka, E Howard, S Bunstone, et al.
Brain : a Journal of Neurology|June 4, 1999
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsyS M Zuberi, L H Eunson, A Spauschus, et al.
Clinical Genetics|January 1, 1996
Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessmentA J Barnicoat, J L Bonneau, E Boyd, et al.
Human Mutation|January 1, 1997
Nine novel L1 CAM mutations in families with X-linked hydrocephalusJ R MacFarlane, J S Du, M E Pepys, et al.
American Journal of Human Genetics|March 21, 2000
Familial syndromic esophageal atresia maps to 2p23-p24J Celli, E van Beusekom, R C Hennekam, et al.
Clinical Genetics|January 6, 2011
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletionsM H Willemsen, G Beunders, M Callaghan, et al.
American Journal of Human Genetics|October 3, 1998
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24H A Phillips, I E Scheffer, K M Crossland, et al.
Human Genetics|December 12, 2013
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeR S Møller, L R Jensen, S M Maas, et al.
Molecular Psychiatry|August 24, 2016
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and femalesE E Palmer, T Stuhlmann, S Weinert, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Journal of Medical Genetics|April 14, 2006
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patientsH L Archer, J Evans, S Edwards, et al.
Clinical Genetics|August 21, 2012
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndromeS Banka, E Howard, S Bunstone, et al.
Brain : a Journal of Neurology|June 4, 1999
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsyS M Zuberi, L H Eunson, A Spauschus, et al.
Clinical Genetics|January 1, 1996
Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessmentA J Barnicoat, J L Bonneau, E Boyd, et al.
Human Mutation|January 1, 1997
Nine novel L1 CAM mutations in families with X-linked hydrocephalusJ R MacFarlane, J S Du, M E Pepys, et al.
American Journal of Human Genetics|March 21, 2000
Familial syndromic esophageal atresia maps to 2p23-p24J Celli, E van Beusekom, R C Hennekam, et al.
Clinical Genetics|January 6, 2011
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletionsM H Willemsen, G Beunders, M Callaghan, et al.
American Journal of Human Genetics|October 3, 1998
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24H A Phillips, I E Scheffer, K M Crossland, et al.
Human Genetics|December 12, 2013
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeR S Møller, L R Jensen, S M Maas, et al.
Molecular Psychiatry|August 24, 2016
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and femalesE E Palmer, T Stuhlmann, S Weinert, et al.
Pageof 3