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Neurogenetics
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January 16, 2026
First report of an inherited MYCBP2 neurodevelopmental disorder: review of proband and parent presentation
Alice Pham, Jennifer Harmon, Lia K Thibodaux, et al.
Neurogenetics
|
December 20, 2025
Multilayered genetic dissection of autism: insights from whole-exome sequencing, molecular karyotyping, and cytogenetic analyses in a small Turkish cohort
Metin Eser, Gulam Hekimoglu, Busra Kutlubay
Neurogenetics
|
May 27, 2025
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population
Pinar Ozkan Kart, Oguzhan Demir, Ayberk Turkyilmaz, et al.
Neurogenetics
|
October 27, 2025
A novel frameshift mutation in the NEK1 gene causing amyotrophic lateral sclerosis: A case report and literature review
DeLi Yang, XiaoYang Lei, Lang Yang, et al.
Neurogenetics
|
October 1, 2025
Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan
Sana Fatima, Hunza Malik, Aftab Ali, et al.
Neurogenetics
|
August 15, 2025
Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome
Katia Margiotti, Marco Fabiani, Costanza Zangheri, et al.
Neurogenetics
|
July 31, 2025
Association of LRRK2 R1628P variant with Parkinson's disease in Kinh Vietnamese: a cross-sectional study
Minh Duc Do, Tai Ngoc Tran, Linh Hoang Gia Le, et al.
Neurogenetics
|
June 6, 2025
Zebrafish as a tool for autism research: unraveling the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic and behavioral abnormalities
Akansha Pal, Falguni Goel, Vipin Kumar Garg
Neurogenetics
|
June 21, 2025
Identification of a de Novo MARK2 gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay
Xiaolan Sun, Yong Chen, Jianmin Zhong, et al.
Neurogenetics
|
March 18, 2025
Genotypic and clinical phenotypic analysis of DEPDC5 gene mutations
Baoguang Li, Zhenzhen Qu, Wenjuan Wu, et al.
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of 95
Search research articles
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Showing results (931-940 of 949) with videos related to
Sort By:
Page
of 95
Neurogenetics
|
January 16, 2026
First report of an inherited MYCBP2 neurodevelopmental disorder: review of proband and parent presentation
Alice Pham, Jennifer Harmon, Lia K Thibodaux, et al.
Neurogenetics
|
December 20, 2025
Multilayered genetic dissection of autism: insights from whole-exome sequencing, molecular karyotyping, and cytogenetic analyses in a small Turkish cohort
Metin Eser, Gulam Hekimoglu, Busra Kutlubay
Neurogenetics
|
May 27, 2025
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population
Pinar Ozkan Kart, Oguzhan Demir, Ayberk Turkyilmaz, et al.
Neurogenetics
|
October 27, 2025
A novel frameshift mutation in the NEK1 gene causing amyotrophic lateral sclerosis: A case report and literature review
DeLi Yang, XiaoYang Lei, Lang Yang, et al.
Neurogenetics
|
October 1, 2025
Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan
Sana Fatima, Hunza Malik, Aftab Ali, et al.
Neurogenetics
|
August 15, 2025
Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome
Katia Margiotti, Marco Fabiani, Costanza Zangheri, et al.
Neurogenetics
|
July 31, 2025
Association of LRRK2 R1628P variant with Parkinson's disease in Kinh Vietnamese: a cross-sectional study
Minh Duc Do, Tai Ngoc Tran, Linh Hoang Gia Le, et al.
Neurogenetics
|
June 6, 2025
Zebrafish as a tool for autism research: unraveling the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic and behavioral abnormalities
Akansha Pal, Falguni Goel, Vipin Kumar Garg
Neurogenetics
|
June 21, 2025
Identification of a de Novo MARK2 gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay
Xiaolan Sun, Yong Chen, Jianmin Zhong, et al.
Neurogenetics
|
March 18, 2025
Genotypic and clinical phenotypic analysis of DEPDC5 gene mutations
Baoguang Li, Zhenzhen Qu, Wenjuan Wu, et al.
Page
of 95