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Janine Altmüller

Showing results (131-140 of 326) with videos related to

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Frontiers in Genetics|July 29, 2021
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and VKatja M Eckl, Robert Gruber, Louise Brennan, et al.
Nature Communications|May 27, 2021
The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processingEvi Goulielmaki, Maria Tsekrekou, Nikos Batsiotos, et al.
Human Genetics|April 21, 2015
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3Birgit S Budde, Shuji Mizumoto, Ryo Kogawa, et al.
Neurogenetics|July 4, 2021
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variantsKatja Kloth, Bernarda Lozic, Julia Tagoe, et al.
European Journal of Human Genetics : EJHG|March 19, 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomaliesMiriam S Reuter, Michael Zech, Maja Hempel, et al.
Human Molecular Genetics|January 8, 2016
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGSMalte P Bartram, Sandra Habbig, Caroline Pahmeyer, et al.
Nature Medicine|November 7, 2017
A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscleMotoharu Awazawa, Paula Gabel, Eva Tsaousidou, et al.
American Journal of Human Genetics|April 24, 2012
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal functionMuhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, et al.
Neuron|May 15, 2020
MCH Neurons Regulate Permeability of the Median Eminence BarrierHong Jiang, Sarah Gallet, Paul Klemm, et al.
Nature Communications|December 10, 2015
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutantEnrico Leipold, Andrea Hanson-Kahn, Miya Frick, et al.
Pageof 33

Showing results (131-140 of 326) with videos related to

Sort By:
Pageof 33
Frontiers in Genetics|July 29, 2021
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and VKatja M Eckl, Robert Gruber, Louise Brennan, et al.
Nature Communications|May 27, 2021
The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processingEvi Goulielmaki, Maria Tsekrekou, Nikos Batsiotos, et al.
Human Genetics|April 21, 2015
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3Birgit S Budde, Shuji Mizumoto, Ryo Kogawa, et al.
Neurogenetics|July 4, 2021
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variantsKatja Kloth, Bernarda Lozic, Julia Tagoe, et al.
European Journal of Human Genetics : EJHG|March 19, 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomaliesMiriam S Reuter, Michael Zech, Maja Hempel, et al.
Human Molecular Genetics|January 8, 2016
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGSMalte P Bartram, Sandra Habbig, Caroline Pahmeyer, et al.
Nature Medicine|November 7, 2017
A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscleMotoharu Awazawa, Paula Gabel, Eva Tsaousidou, et al.
American Journal of Human Genetics|April 24, 2012
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal functionMuhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, et al.
Neuron|May 15, 2020
MCH Neurons Regulate Permeability of the Median Eminence BarrierHong Jiang, Sarah Gallet, Paul Klemm, et al.
Nature Communications|December 10, 2015
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutantEnrico Leipold, Andrea Hanson-Kahn, Miya Frick, et al.
Pageof 33