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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Gabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement
Valentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Brain : a Journal of Neurology
|
November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.
The Journal of Clinical Investigation
|
October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.
Nature Communications
|
April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Genetics
|
May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
American Journal of Human Genetics
|
April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Brain : a Journal of Neurology
|
February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Afshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
Nature Genetics
|
April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
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Search research articles
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Showing results (141-150 of 150) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 150 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Gabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement
Valentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Brain : a Journal of Neurology
|
November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.
The Journal of Clinical Investigation
|
October 14, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, et al.
Nature Communications
|
April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Genetics
|
May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
American Journal of Human Genetics
|
April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Brain : a Journal of Neurology
|
February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Afshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
Nature Genetics
|
April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Page
of 15