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Shazia Maqbool

Showing results (21-30 of 35) with videos related to

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American Journal of Human Genetics|May 15, 2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndromeLore Pottie, Christin S Adamo, Aude Beyens, et al.
Human Genomics|July 14, 2021
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autismEvin M Padhi, Tristan J Hayeck, Zhang Cheng, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
American Journal of Human Genetics|March 27, 2026
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorderJames Lambton, Shotaro Asano, Yuxiang Huang, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Annals of Neurology|January 14, 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Pirjo Isohanni, Yunru Shao, et al.
Brain Communications|October 5, 2023
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesAndrea Accogli, Maha S Zaki, Mohammed Al-Owain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
American Journal of Human Genetics|May 15, 2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndromeLore Pottie, Christin S Adamo, Aude Beyens, et al.
Human Genomics|July 14, 2021
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autismEvin M Padhi, Tristan J Hayeck, Zhang Cheng, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
American Journal of Human Genetics|March 27, 2026
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorderJames Lambton, Shotaro Asano, Yuxiang Huang, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Annals of Neurology|January 14, 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Pirjo Isohanni, Yunru Shao, et al.
Brain Communications|October 5, 2023
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesAndrea Accogli, Maha S Zaki, Mohammed Al-Owain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.
Pageof 4