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

Breuning

Showing results (381-390 of 391) with videos related to

Pageof 40
Sort By:
Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.
NPJ Precision Oncology|July 3, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancersEmily L Hoskins, Raven Vella, Julie W Reeser, et al.
Hormone Research in Paediatrics|June 9, 2012
Genetic analysis of short children with apparent growth hormone insensitivityJ M Wit, H A van Duyvenvoorde, S A Scheltinga, et al.
European Journal of Human Genetics : EJHG|February 23, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairmentLonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, et al.
Chest|May 7, 2026
Comparison of Hemodynamic Responses to Balloon Pulmonary Angioplasty in Chronic Thromboembolic Pulmonary Hypertension in Japan and the Netherlands: a multicenter studySatoshi Higuchi, Konstantinos Mantzios, Takatoyo Kiko, et al.
European Journal of Medical Genetics|March 25, 2009
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individualsE K Bijlsma, A C J Gijsbers, J H M Schuurs-Hoeijmakers, et al.
Journal of Medical Genetics|September 6, 2005
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)M Nielsen, P F Franken, T H C M Reinards, et al.
Nature Genetics|February 28, 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeCornelis A Albers, Dirk S Paul, Harald Schulze, et al.
Human Mutation|August 10, 2013
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patientsGijs W E Santen, Emmelien Aten, Anneke T Vulto-van Silfhout, et al.
The Journal of Clinical Endocrinology and Metabolism|October 11, 2013
The IGSF1 deficiency syndrome: characteristics of male and female patientsS D Joustra, N Schoenmakers, L Persani, et al.
Pageof 40

Showing results (381-390 of 391) with videos related to

Sort By:
Pageof 40
Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.
NPJ Precision Oncology|July 3, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancersEmily L Hoskins, Raven Vella, Julie W Reeser, et al.
Hormone Research in Paediatrics|June 9, 2012
Genetic analysis of short children with apparent growth hormone insensitivityJ M Wit, H A van Duyvenvoorde, S A Scheltinga, et al.
European Journal of Human Genetics : EJHG|February 23, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairmentLonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, et al.
Chest|May 7, 2026
Comparison of Hemodynamic Responses to Balloon Pulmonary Angioplasty in Chronic Thromboembolic Pulmonary Hypertension in Japan and the Netherlands: a multicenter studySatoshi Higuchi, Konstantinos Mantzios, Takatoyo Kiko, et al.
European Journal of Medical Genetics|March 25, 2009
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individualsE K Bijlsma, A C J Gijsbers, J H M Schuurs-Hoeijmakers, et al.
Journal of Medical Genetics|September 6, 2005
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)M Nielsen, P F Franken, T H C M Reinards, et al.
Nature Genetics|February 28, 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeCornelis A Albers, Dirk S Paul, Harald Schulze, et al.
Human Mutation|August 10, 2013
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patientsGijs W E Santen, Emmelien Aten, Anneke T Vulto-van Silfhout, et al.
The Journal of Clinical Endocrinology and Metabolism|October 11, 2013
The IGSF1 deficiency syndrome: characteristics of male and female patientsS D Joustra, N Schoenmakers, L Persani, et al.
Pageof 40