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Janine Altmüller

Showing results (181-190 of 326) with videos related to

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Birth Defects Research|February 2, 2018
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate geneValerie Weitensteiner, Rong Zhang, Julia Bungenberg, et al.
The Journal of Clinical Investigation|March 14, 2017
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversaDamian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, et al.
Genomics|April 23, 2003
High-resolution SNP scan of chromosome 6p21 in pooled samples from patients with complex diseasesNicole Herbon, Monika Werner, Christine Braig, et al.
Journal of Human Genetics|June 6, 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Neurobiology of Disease|February 25, 2014
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsyBorislav Dejanovic, Dennis Lal, Claudia B Catarino, et al.
Human Molecular Genetics|June 22, 2014
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani familyMuzammil A Khan, Verena M Rupp, Meritxell Orpinell, et al.
Scientific Reports|May 23, 2018
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
Scientific Data|September 14, 2016
Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretusBettina Harr, Emre Karakoc, Rafik Neme, et al.
The Journal of Investigative Dermatology|April 4, 2013
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain lengthKatja-Martina Eckl, Rotem Tidhar, Holger Thiele, et al.
Scientific Reports|July 4, 2018
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 (181-190 of 326) with videos related to

Sort By:
Pageof 33
Birth Defects Research|February 2, 2018
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate geneValerie Weitensteiner, Rong Zhang, Julia Bungenberg, et al.
The Journal of Clinical Investigation|March 14, 2017
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversaDamian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, et al.
Genomics|April 23, 2003
High-resolution SNP scan of chromosome 6p21 in pooled samples from patients with complex diseasesNicole Herbon, Monika Werner, Christine Braig, et al.
Journal of Human Genetics|June 6, 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Neurobiology of Disease|February 25, 2014
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsyBorislav Dejanovic, Dennis Lal, Claudia B Catarino, et al.
Human Molecular Genetics|June 22, 2014
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani familyMuzammil A Khan, Verena M Rupp, Meritxell Orpinell, et al.
Scientific Reports|May 23, 2018
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
Scientific Data|September 14, 2016
Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretusBettina Harr, Emre Karakoc, Rafik Neme, et al.
The Journal of Investigative Dermatology|April 4, 2013
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain lengthKatja-Martina Eckl, Rotem Tidhar, Holger Thiele, et al.
Scientific Reports|July 4, 2018
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