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American Journal of Human Genetics
|
December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Journal of Medical Genetics
|
August 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 5, 2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2019
PEDIA: prioritization of exome data by image analysis
Tzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications
|
November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
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of 6
Search research articles
Search
Showing results (51-60 of 57) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 57 results.
American Journal of Human Genetics
|
December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Journal of Medical Genetics
|
August 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 5, 2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2019
PEDIA: prioritization of exome data by image analysis
Tzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications
|
November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Page
of 6