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European Journal of Human Genetics : EJHG
|
September 16, 2018
Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers
Lukas Soellner, Florian Kraft, Sabrina Sauer, et al.
Plos One
|
July 31, 2018
MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy
Evaldas Girdauskas, Johannes Petersen, Niklas Neumann, et al.
Pflugers Archiv : European Journal of Physiology
|
September 11, 2023
Peripheral temperature dysregulation associated with functionally altered Na<sub>V</sub>1.8 channels
Simon Loose, Annette Lischka, Samuel Kuehs, et al.
European Journal of Medical Genetics
|
December 21, 2019
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability
Martin G Häusler, Matthias Begemann, Hart G Lidov, et al.
Neuropediatrics
|
December 27, 2016
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency
Miriam Elbracht, Michael Mull, Norbert Wagner, et al.
Pain
|
December 22, 2025
Spontaneous activity in pain patient stem cell-derived sensory neurons arises from one functional subclass
Esther Eberhardt, Barbara Namer, Anika Neureiter, et al.
European Journal of Medical Genetics
|
March 26, 2021
Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2?
Kristina Vollbach, Sonja Trepels-Kottek, Miriam Elbracht, et al.
Bone Reports
|
May 22, 2023
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco
Larissa Mattern, Matthias Begemann, Heide Delbrück, et al.
Molecular and Cellular Probes
|
November 19, 2016
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy
Emanuele G Coci, Luca Codutti, Christian Fink, et al.
Stem Cell Research
|
February 8, 2019
Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy
Thomas Klein, Katharina Klug, Lisa Henkel, et al.
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of 15
Search research articles
Search
Showing results (21-30 of 145) with videos related to
Sort By:
Page
of 15
European Journal of Human Genetics : EJHG
|
September 16, 2018
Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers
Lukas Soellner, Florian Kraft, Sabrina Sauer, et al.
Plos One
|
July 31, 2018
MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy
Evaldas Girdauskas, Johannes Petersen, Niklas Neumann, et al.
Pflugers Archiv : European Journal of Physiology
|
September 11, 2023
Peripheral temperature dysregulation associated with functionally altered Na<sub>V</sub>1.8 channels
Simon Loose, Annette Lischka, Samuel Kuehs, et al.
European Journal of Medical Genetics
|
December 21, 2019
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability
Martin G Häusler, Matthias Begemann, Hart G Lidov, et al.
Neuropediatrics
|
December 27, 2016
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency
Miriam Elbracht, Michael Mull, Norbert Wagner, et al.
Pain
|
December 22, 2025
Spontaneous activity in pain patient stem cell-derived sensory neurons arises from one functional subclass
Esther Eberhardt, Barbara Namer, Anika Neureiter, et al.
European Journal of Medical Genetics
|
March 26, 2021
Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2?
Kristina Vollbach, Sonja Trepels-Kottek, Miriam Elbracht, et al.
Bone Reports
|
May 22, 2023
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco
Larissa Mattern, Matthias Begemann, Heide Delbrück, et al.
Molecular and Cellular Probes
|
November 19, 2016
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy
Emanuele G Coci, Luca Codutti, Christian Fink, et al.
Stem Cell Research
|
February 8, 2019
Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy
Thomas Klein, Katharina Klug, Lisa Henkel, et al.
Page
of 15