Search research articles
Contact Us
Filters
Showing results (861-870 of 902) with videos related to
Page
of 91
Sort By:
European Journal of Human Genetics : EJHG
|
September 6, 2023
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
Emily A Huth, Xiaonan Zhao, Nichole Owen, et al.
Annals of Neurology
|
June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
Tariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Cell
|
July 3, 2024
Loss of transient receptor potential channel 5 causes obesity and postpartum depression
Yongxiang Li, Tessa M Cacciottolo, Na Yin, et al.
Human Mutation
|
June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
Josephina A N Meester, Maja Sukalo, Kim C Schröder, et al.
Nature Communications
|
November 28, 2024
The dual GLP-1/glucagon receptor agonist G49 mimics bariatric surgery effects by inducing metabolic rewiring and inter-organ crosstalk
M Pilar Valdecantos, Laura Ruiz, Cintia Folgueira, et al.
Nature Genetics
|
October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Nadia Akawi, Jeremy McRae, Morad Ansari, et al.
Human Mutation
|
June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
Suzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Physical Review Letters
|
February 15, 2020
Evolution of Octupole Deformation in Radium Nuclei from Coulomb Excitation of Radioactive ^{222}Ra and ^{228}Ra Beams
P A Butler, L P Gaffney, P Spagnoletti, et al.
American Journal of Human Genetics
|
December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Sara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Page
of 91
Search research articles
Search
Showing results (861-870 of 902) with videos related to
Sort By:
Page
of 91
European Journal of Human Genetics : EJHG
|
September 6, 2023
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
Emily A Huth, Xiaonan Zhao, Nichole Owen, et al.
Annals of Neurology
|
June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
Tariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Cell
|
July 3, 2024
Loss of transient receptor potential channel 5 causes obesity and postpartum depression
Yongxiang Li, Tessa M Cacciottolo, Na Yin, et al.
Human Mutation
|
June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
Josephina A N Meester, Maja Sukalo, Kim C Schröder, et al.
Nature Communications
|
November 28, 2024
The dual GLP-1/glucagon receptor agonist G49 mimics bariatric surgery effects by inducing metabolic rewiring and inter-organ crosstalk
M Pilar Valdecantos, Laura Ruiz, Cintia Folgueira, et al.
Nature Genetics
|
October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Nadia Akawi, Jeremy McRae, Morad Ansari, et al.
Human Mutation
|
June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
Suzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Physical Review Letters
|
February 15, 2020
Evolution of Octupole Deformation in Radium Nuclei from Coulomb Excitation of Radioactive ^{222}Ra and ^{228}Ra Beams
P A Butler, L P Gaffney, P Spagnoletti, et al.
American Journal of Human Genetics
|
December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Sara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Page
of 91