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Lorida Llaci

Showing results (11-20 of 19) with videos related to

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Biorxiv : the Preprint Server for Biology|June 6, 2025
EGR1 drives sex-differences in glioblastoma tumorigenicityTamara J Abou-Antoun, Lorida Llaci, Jason P Wong, et al.
Clinical Genetics|June 26, 2019
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2Wayne M Jepsen, Keri Ramsey, Szabolcs Szelinger, et al.
Acta Neuropathologica Communications|June 5, 2020
Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the diseaseIgnazio S Piras, Christiane Bleul, Isabelle Schrauwen, et al.
Human Genetics|November 22, 2019
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)Lorida Llaci, Keri Ramsey, Newell Belnap, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
Epigenomics|October 3, 2017
Exploring genome-wide DNA methylation patterns in Aicardi syndromeIgnazio S Piras, Gabrielle Mills, Lorida Llaci, et al.
Human Genetics|March 12, 2021
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of FinlandIrma Järvelä, Tuomo Määttä, Anushree Acharya, et al.
Cells|July 6, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental DisordersEric Frankel, Avijit Podder, Megan Sharifi, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Biorxiv : the Preprint Server for Biology|June 6, 2025
EGR1 drives sex-differences in glioblastoma tumorigenicityTamara J Abou-Antoun, Lorida Llaci, Jason P Wong, et al.
Clinical Genetics|June 26, 2019
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2Wayne M Jepsen, Keri Ramsey, Szabolcs Szelinger, et al.
Acta Neuropathologica Communications|June 5, 2020
Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the diseaseIgnazio S Piras, Christiane Bleul, Isabelle Schrauwen, et al.
Human Genetics|November 22, 2019
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)Lorida Llaci, Keri Ramsey, Newell Belnap, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
Epigenomics|October 3, 2017
Exploring genome-wide DNA methylation patterns in Aicardi syndromeIgnazio S Piras, Gabrielle Mills, Lorida Llaci, et al.
Human Genetics|March 12, 2021
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of FinlandIrma Järvelä, Tuomo Määttä, Anushree Acharya, et al.
Cells|July 6, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental DisordersEric Frankel, Avijit Podder, Megan Sharifi, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
Pageof 2