Showing results (141-150 of 176) with videos related to

Sort By:
Pageof 18
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.
The Journal of Clinical Investigation|June 11, 2026
Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorderQin Wang, Andrew K Sobering, Christian Tirrito, et al.
Nature Communications|March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsViorica Chelban, Henriette Aksnes, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Nature Communications|July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.
Brain : a Journal of Neurology|July 31, 2024
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial gliaYuji Nakamura, Issei S Shimada, Reza Maroofian, et al.
Brain : a Journal of Neurology|September 15, 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsHashem Almousa, Sara A Lewis, Somayeh Bakhtiari, et al.
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 anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
American Journal of Human Genetics|December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.
Pageof 18