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

Maria Bitner-Glindzicz

Showing results (41-50 of 77) with videos related to

Pageof 8
Sort By:
Human Reproduction (Oxford, England)|April 6, 2006
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
STAG3 truncating variant as the cause of primary ovarian insufficiencyPolona Le Quesne Stabej, Hywel J Williams, Chela James, et al.
Circulation|February 8, 2006
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcomePeter J Schwartz, Carla Spazzolini, Lia Crotti, et al.
Human Molecular Genetics|September 23, 2010
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 3, 2006
Mutation analyses of Uroplakin II in children with renal tract malformationsDagan Jenkins, Maria Bitner-Glindzicz, Sue Malcolm, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|January 14, 2005
Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11pKhalid Hussain, Maria Bitner-Glindzicz, Diana Blaydon, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEva Lenassi, Ajoy Vincent, Zheng Li, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2006
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypesFaisal Idrees, Agnes Bloch-Zupan, Samantha L Free, et al.
American Journal of Human Genetics|April 21, 2009
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseaseAndrew J Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, et al.
Human Molecular Genetics|April 11, 2018
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20Dale Bryant, Yang Liu, Sanchari Datta, et al.
Pageof 8

Showing results (41-50 of 77) with videos related to

Sort By:
Pageof 8
Human Reproduction (Oxford, England)|April 6, 2006
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
STAG3 truncating variant as the cause of primary ovarian insufficiencyPolona Le Quesne Stabej, Hywel J Williams, Chela James, et al.
Circulation|February 8, 2006
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcomePeter J Schwartz, Carla Spazzolini, Lia Crotti, et al.
Human Molecular Genetics|September 23, 2010
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 3, 2006
Mutation analyses of Uroplakin II in children with renal tract malformationsDagan Jenkins, Maria Bitner-Glindzicz, Sue Malcolm, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|January 14, 2005
Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11pKhalid Hussain, Maria Bitner-Glindzicz, Diana Blaydon, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEva Lenassi, Ajoy Vincent, Zheng Li, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2006
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypesFaisal Idrees, Agnes Bloch-Zupan, Samantha L Free, et al.
American Journal of Human Genetics|April 21, 2009
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseaseAndrew J Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, et al.
Human Molecular Genetics|April 11, 2018
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20Dale Bryant, Yang Liu, Sanchari Datta, et al.
Pageof 8