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European Journal of Human Genetics : EJHG
|
January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
Reza Asadollahi, Justin E Strauss, Martin Zenker, et al.
Journal of Medical Genetics
|
August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disorders
Reza Asadollahi, Beatrice Oneda, Pascal Joset, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Paranchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
European Journal of Human Genetics : EJHG
|
December 16, 2018
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
Sorina M Papuc, Lucia Abela, Katharina Steindl, et al.
American Journal of Human Genetics
|
August 21, 2024
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
American Journal of Human Genetics
|
July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
Anne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 5, 2020
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Anaïs Begemann, Heinrich Sticht, Amber Begtrup, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Holly K Harris, Tojo Nakayama, Jenny Lai, et al.
Nature Genetics
|
October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
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Showing results (21-30 of 29) with videos related to
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Page
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You have reached the last page of results.
This site can display upto 29 results.
European Journal of Human Genetics : EJHG
|
January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
Reza Asadollahi, Justin E Strauss, Martin Zenker, et al.
Journal of Medical Genetics
|
August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disorders
Reza Asadollahi, Beatrice Oneda, Pascal Joset, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Paranchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
European Journal of Human Genetics : EJHG
|
December 16, 2018
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
Sorina M Papuc, Lucia Abela, Katharina Steindl, et al.
American Journal of Human Genetics
|
August 21, 2024
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
American Journal of Human Genetics
|
July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
Anne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 5, 2020
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Anaïs Begemann, Heinrich Sticht, Amber Begtrup, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Holly K Harris, Tojo Nakayama, Jenny Lai, et al.
Nature Genetics
|
October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
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