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American Journal of Human Genetics
|
April 2, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
American Journal of Human Genetics
|
March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Erin Torti, Boris Keren, Elizabeth E Palmer, et al.
Science Translational Medicine
|
December 3, 2025
Loss of PILRA promotes microglial immunometabolism to reduce amyloid pathology in cell and mouse models of Alzheimer's disease
Tanya N Weerakkody, Hanna Sabelström, Shan V Andrews, et al.
Nature Communications
|
February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Holger Hengel, Célia Bosso-Lefèvre, George Grady, et al.
American Journal of Human Genetics
|
August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Andreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Page
of 16
Search research articles
Search
Showing results (151-160 of 157) with videos related to
Sort By:
Page
of 16
You have reached the last page of results.
This site can display upto 157 results.
American Journal of Human Genetics
|
April 2, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
American Journal of Human Genetics
|
March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Erin Torti, Boris Keren, Elizabeth E Palmer, et al.
Science Translational Medicine
|
December 3, 2025
Loss of PILRA promotes microglial immunometabolism to reduce amyloid pathology in cell and mouse models of Alzheimer's disease
Tanya N Weerakkody, Hanna Sabelström, Shan V Andrews, et al.
Nature Communications
|
February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Holger Hengel, Célia Bosso-Lefèvre, George Grady, et al.
American Journal of Human Genetics
|
August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Andreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Page
of 16