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Paranchai Boonsawat

Showing results (1-10 of 10) with videos related to

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Neurogenetics|August 28, 2025
Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 geneRobin A Pilz, Matthias Begemann, Surema Pfister, et al.
Swiss Medical Weekly|August 19, 2019
Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohortDennis Kraemer, Silvia Azzarello-Burri, Katharina Steindl, et al.
NPJ Genomic Medicine|July 29, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disordersParanchai Boonsawat, Anselm H C Horn, Katharina Steindl, et al.
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 signalingReza Asadollahi, Justin E Strauss, Martin Zenker, 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 microcephalyParanchai Boonsawat, Pascal Joset, 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 signalingParanchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
American Journal of Human Genetics|May 14, 2024
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effectFang Yang, Anais Begemann, Nadine Reichhart, 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 DisorderAnne Gregor, Lynette G Sadleir, Reza Asadollahi, 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 behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Neurogenetics|August 28, 2025
Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 geneRobin A Pilz, Matthias Begemann, Surema Pfister, et al.
Swiss Medical Weekly|August 19, 2019
Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohortDennis Kraemer, Silvia Azzarello-Burri, Katharina Steindl, et al.
NPJ Genomic Medicine|July 29, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disordersParanchai Boonsawat, Anselm H C Horn, Katharina Steindl, et al.
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 signalingReza Asadollahi, Justin E Strauss, Martin Zenker, 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 microcephalyParanchai Boonsawat, Pascal Joset, 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 signalingParanchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
American Journal of Human Genetics|May 14, 2024
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effectFang Yang, Anais Begemann, Nadine Reichhart, 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 DisorderAnne Gregor, Lynette G Sadleir, Reza Asadollahi, 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 behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
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