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

Thomas Meitinger

Showing results (51-60 of 536) with videos related to

Pageof 54
Sort By:
European Journal of Medical Genetics|July 11, 2012
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophyChristian Jaklin, Katrin Heiliger, Maja Hempel, et al.
Human Molecular Genetics|September 22, 2005
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease riskAndrea Rivera, Sheila A Fisher, Lars G Fritsche, et al.
Gene|March 19, 2020
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditionsTheresa Brunet, Dominik S Westphal, Sandrina Weber, et al.
Human Mutation|December 24, 2002
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?Claudia Rubie, Peter Lichtner, Jutta Gärtner, et al.
Human Molecular Genetics|December 3, 2005
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activityChristian Johannes Gloeckner, Norbert Kinkl, Annette Schumacher, et al.
International Journal of Neonatal Screening|March 27, 2024
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening CenterGwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, et al.
Clinical Genetics|March 15, 2019
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testingDominik S Westphal, Gloria S Leszinski, Esther Rieger-Fackeldey, et al.
Annals of Neurology|March 24, 2005
Multiple regions of alpha-synuclein are associated with Parkinson's diseaseJakob C Mueller, Julia Fuchs, Anne Hofer, et al.
Ebiomedicine|October 23, 2020
Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]Jing Tan, Matias Wagner, Sarah L Stenton, et al.
Ebiomedicine|April 20, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databasesJing Tan, Matias Wagner, Sarah L Stenton, et al.
Pageof 54

Showing results (51-60 of 536) with videos related to

Sort By:
Pageof 54
European Journal of Medical Genetics|July 11, 2012
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophyChristian Jaklin, Katrin Heiliger, Maja Hempel, et al.
Human Molecular Genetics|September 22, 2005
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease riskAndrea Rivera, Sheila A Fisher, Lars G Fritsche, et al.
Gene|March 19, 2020
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditionsTheresa Brunet, Dominik S Westphal, Sandrina Weber, et al.
Human Mutation|December 24, 2002
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?Claudia Rubie, Peter Lichtner, Jutta Gärtner, et al.
Human Molecular Genetics|December 3, 2005
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activityChristian Johannes Gloeckner, Norbert Kinkl, Annette Schumacher, et al.
International Journal of Neonatal Screening|March 27, 2024
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening CenterGwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, et al.
Clinical Genetics|March 15, 2019
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testingDominik S Westphal, Gloria S Leszinski, Esther Rieger-Fackeldey, et al.
Annals of Neurology|March 24, 2005
Multiple regions of alpha-synuclein are associated with Parkinson's diseaseJakob C Mueller, Julia Fuchs, Anne Hofer, et al.
Ebiomedicine|October 23, 2020
Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]Jing Tan, Matias Wagner, Sarah L Stenton, et al.
Ebiomedicine|April 20, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databasesJing Tan, Matias Wagner, Sarah L Stenton, et al.
Pageof 54