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

N Philip

Showing results (201-210 of 212) with videos related to

Pageof 22
Sort By:
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Journal of Medical Genetics|January 31, 2006
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 casesB Kerr, M-A Delrue, S Sigaudy, et al.
BMC Health Services Research|April 21, 2023
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French settingA L Soilly, C Robert-Viard, C Besse, et al.
Journal of Medical Genetics|November 14, 1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.
The British Journal of Dermatology|August 25, 2018
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patientsD Bessis, F Morice-Picard, E Bourrat, et al.
Human Genetics|February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous diseaseJean Muller, C Stoetzel, M C Vincent, et al.
The British Journal of Dermatology|November 13, 2018
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutationD Bessis, J Miquel, E Bourrat, et al.
Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
Clinical Genetics|March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French casesS Baer, A Afenjar, T Smol, et al.
Pageof 22

Showing results (201-210 of 212) with videos related to

Sort By:
Pageof 22
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Journal of Medical Genetics|January 31, 2006
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 casesB Kerr, M-A Delrue, S Sigaudy, et al.
BMC Health Services Research|April 21, 2023
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French settingA L Soilly, C Robert-Viard, C Besse, et al.
Journal of Medical Genetics|November 14, 1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.
The British Journal of Dermatology|August 25, 2018
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patientsD Bessis, F Morice-Picard, E Bourrat, et al.
Human Genetics|February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous diseaseJean Muller, C Stoetzel, M C Vincent, et al.
The British Journal of Dermatology|November 13, 2018
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutationD Bessis, J Miquel, E Bourrat, et al.
Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
Clinical Genetics|March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French casesS Baer, A Afenjar, T Smol, et al.
Pageof 22