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Maria Bitner-Glindzicz

Showing results (51-60 of 77) with videos related to

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Journal of Medical Genetics|December 3, 2011
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher StudyPolona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, et al.
Human Molecular Genetics|January 31, 2020
Clinical and preclinical therapeutic outcome metrics for USH2A-related diseaseMaria Toms, Adam M Dubis, Erik de Vrieze, et al.
Journal of the American Society of Nephrology : JASN|May 13, 2005
De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failureDagan Jenkins, Maria Bitner-Glindzicz, Sue Malcolm, et al.
Journal of Pediatric Urology|May 4, 2007
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformationsDagan Jenkins, Maria Bitner-Glindzicz, Louise Thomasson, et al.
American Journal of Human Genetics|July 7, 2010
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13Bertrand Isidor, Olivier Pichon, Richard Redon, et al.
The Journal of Clinical Investigation|August 26, 2006
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humansDaniel Kelberman, Karine Rizzoti, Ariel Avilion, et al.
Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
Human Molecular Genetics|January 14, 2014
Mutation of SALL2 causes recessive ocular coloboma in humans and miceDaniel Kelberman, Lily Islam, Jörn Lakowski, et al.
Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.
JCI Insight|February 8, 2022
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic interventionDale Bryant, Valda Pauzuolyte, Neil J Ingham, et al.
Pageof 8

Showing results (51-60 of 77) with videos related to

Sort By:
Pageof 8
Journal of Medical Genetics|December 3, 2011
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher StudyPolona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, et al.
Human Molecular Genetics|January 31, 2020
Clinical and preclinical therapeutic outcome metrics for USH2A-related diseaseMaria Toms, Adam M Dubis, Erik de Vrieze, et al.
Journal of the American Society of Nephrology : JASN|May 13, 2005
De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failureDagan Jenkins, Maria Bitner-Glindzicz, Sue Malcolm, et al.
Journal of Pediatric Urology|May 4, 2007
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformationsDagan Jenkins, Maria Bitner-Glindzicz, Louise Thomasson, et al.
American Journal of Human Genetics|July 7, 2010
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13Bertrand Isidor, Olivier Pichon, Richard Redon, et al.
The Journal of Clinical Investigation|August 26, 2006
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humansDaniel Kelberman, Karine Rizzoti, Ariel Avilion, et al.
Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
Human Molecular Genetics|January 14, 2014
Mutation of SALL2 causes recessive ocular coloboma in humans and miceDaniel Kelberman, Lily Islam, Jörn Lakowski, et al.
Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.
JCI Insight|February 8, 2022
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic interventionDale Bryant, Valda Pauzuolyte, Neil J Ingham, et al.
Pageof 8