Andreas R Janecke - JoVE Visualize

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American Journal of Ophthalmology|November 16, 2023

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.

Human Mutation|February 27, 2010

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell modelFrank M Ruemmele, Thomas Müller, Natalia Schiefermeier, et al.

American Journal of Human Genetics|February 3, 2009

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrheaPeter Heinz-Erian, Thomas Müller, Birgit Krabichler, et al.

Human Genetics|October 22, 2013

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic formJulie Salomon, Olivier Goulet, Danielle Canioni, et al.

Human Molecular Genetics|November 5, 2005

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleDebra A Thompson, Andreas R Janecke, Jessica Lange, et al.

Human Genetics|May 11, 2021

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjectsAndreas R Janecke, Xiaoqin Liu, Rüdiger Adam, et al.

American Journal of Human Genetics|July 19, 2016

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.

Human Mutation|July 22, 2014

Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.

Human Genetics|November 20, 2014

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.

American Journal of Human Genetics|August 26, 2014

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.

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Showing results (101-110 of 128) with videos related to

Sort By:

Pageof 13

American Journal of Ophthalmology|November 16, 2023

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.

Human Mutation|February 27, 2010

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell modelFrank M Ruemmele, Thomas Müller, Natalia Schiefermeier, et al.

American Journal of Human Genetics|February 3, 2009

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrheaPeter Heinz-Erian, Thomas Müller, Birgit Krabichler, et al.

Human Genetics|October 22, 2013

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic formJulie Salomon, Olivier Goulet, Danielle Canioni, et al.

Human Molecular Genetics|November 5, 2005

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleDebra A Thompson, Andreas R Janecke, Jessica Lange, et al.

Human Genetics|May 11, 2021

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjectsAndreas R Janecke, Xiaoqin Liu, Rüdiger Adam, et al.

American Journal of Human Genetics|July 19, 2016

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.

Human Mutation|July 22, 2014

Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.

Human Genetics|November 20, 2014

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.

American Journal of Human Genetics|August 26, 2014

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.

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