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Janine Altmüller

Showing results (171-180 of 326) with videos related to

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Molecular Genetics & Genomic Medicine|January 3, 2019
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and PakistanDulce Lima Cunha, Omar Mohammed Alakloby, Robert Gruber, et al.
Clinical Genetics|April 13, 2020
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing lossBirgit S Budde, Maha Abdelgaber Aly, Mostafa R Mohamed, et al.
Cells|April 3, 2021
CALINCA-A Novel Pipeline for the Identification of lncRNAs in Podocyte DiseaseSweta Talyan, Samantha Filipów, Michael Ignarski, et al.
The Journal of Molecular Diagnostics : JMD|December 22, 2018
Combined Targeted Resequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for Poly(ADP-Ribose) Polymerase 1 Inhibitor Sensitivity TestingChristina Grimm, Axel Fischer, Angela M Farrelly, et al.
Brain Communications|March 13, 2026
<i>CACNB3</i> defects are associated with infantile idiopathic nystagmusChristoph Jüschke, Kira Linsel, Marta Owczarek-Lipska, et al.
BMC Genomics|December 31, 2013
The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in NematodaPhilipp H Schiffer, Michael Kroiher, Christopher Kraus, et al.
Plos One|November 29, 2021
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposisClaudia Perne, Sophia Peters, Maria Cartolano, et al.
American Journal of Medical Genetics. Part A|June 1, 2016
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndromeNataliya Di Donato, Alma Kuechler, Samantha Vergano, et al.
Journal of Human Genetics|August 8, 2019
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Scientific Reports|May 14, 2020
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
Pageof 33

Showing results (171-180 of 326) with videos related to

Sort By:
Pageof 33
Molecular Genetics & Genomic Medicine|January 3, 2019
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and PakistanDulce Lima Cunha, Omar Mohammed Alakloby, Robert Gruber, et al.
Clinical Genetics|April 13, 2020
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing lossBirgit S Budde, Maha Abdelgaber Aly, Mostafa R Mohamed, et al.
Cells|April 3, 2021
CALINCA-A Novel Pipeline for the Identification of lncRNAs in Podocyte DiseaseSweta Talyan, Samantha Filipów, Michael Ignarski, et al.
The Journal of Molecular Diagnostics : JMD|December 22, 2018
Combined Targeted Resequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for Poly(ADP-Ribose) Polymerase 1 Inhibitor Sensitivity TestingChristina Grimm, Axel Fischer, Angela M Farrelly, et al.
Brain Communications|March 13, 2026
<i>CACNB3</i> defects are associated with infantile idiopathic nystagmusChristoph Jüschke, Kira Linsel, Marta Owczarek-Lipska, et al.
BMC Genomics|December 31, 2013
The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in NematodaPhilipp H Schiffer, Michael Kroiher, Christopher Kraus, et al.
Plos One|November 29, 2021
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposisClaudia Perne, Sophia Peters, Maria Cartolano, et al.
American Journal of Medical Genetics. Part A|June 1, 2016
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndromeNataliya Di Donato, Alma Kuechler, Samantha Vergano, et al.
Journal of Human Genetics|August 8, 2019
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Scientific Reports|May 14, 2020
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
Pageof 33