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Alexandre Reymond

Showing results (131-140 of 169) with videos related to

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American Journal of Human Genetics|March 5, 2021
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
American Journal of Human Genetics|February 5, 2021
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
Biochemistry and Biophysics Reports|December 16, 2025
Single nucleotide variants in <i>UNC13C</i> associated with neurodevelopmental disorders affect ethanol sensitivity in <i>Drosophila</i>Franz Müller, Sonja Neuser, Gaurav Shrestha, et al.
American Journal of Human Genetics|September 3, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.
Plos One|January 13, 2012
Evidence for transcript networks composed of chimeric RNAs in human cellsSarah Djebali, Julien Lagarde, Philipp Kapranov, et al.
Human Molecular Genetics|June 19, 2014
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsyEva M Reinthaler, Dennis Lal, Sebastien Lebon, et al.
Journal of Medical Genetics|October 12, 2012
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersFlore Zufferey, Elliott H Sherr, Noam D Beckmann, et al.
American Journal of Human Genetics|August 16, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.
American Journal of Human Genetics|January 2, 2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisLucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al.
Human Molecular Genetics|September 6, 2022
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyriaAthina Ververi, Sara Zagaglia, Lara Menzies, et al.
Pageof 17

Showing results (131-140 of 169) with videos related to

Sort By:
Pageof 17
American Journal of Human Genetics|March 5, 2021
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
American Journal of Human Genetics|February 5, 2021
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
Biochemistry and Biophysics Reports|December 16, 2025
Single nucleotide variants in <i>UNC13C</i> associated with neurodevelopmental disorders affect ethanol sensitivity in <i>Drosophila</i>Franz Müller, Sonja Neuser, Gaurav Shrestha, et al.
American Journal of Human Genetics|September 3, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.
Plos One|January 13, 2012
Evidence for transcript networks composed of chimeric RNAs in human cellsSarah Djebali, Julien Lagarde, Philipp Kapranov, et al.
Human Molecular Genetics|June 19, 2014
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsyEva M Reinthaler, Dennis Lal, Sebastien Lebon, et al.
Journal of Medical Genetics|October 12, 2012
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersFlore Zufferey, Elliott H Sherr, Noam D Beckmann, et al.
American Journal of Human Genetics|August 16, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.
American Journal of Human Genetics|January 2, 2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisLucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al.
Human Molecular Genetics|September 6, 2022
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyriaAthina Ververi, Sara Zagaglia, Lara Menzies, et al.
Pageof 17