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Luis Rohena

Showing results (21-30 of 36) with videos related to

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JCI Insight|November 2, 2019
NK cell defects in X-linked pigmentary reticulate disorderPetro Starokadomskyy, Katelynn M Wilton, Konrad Krzewski, et al.
American Journal of Human Genetics|April 23, 2019
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and HypogonadismHilde Van Esch, Rita Colnaghi, Kathleen Freson, et al.
Plos Genetics|May 17, 2014
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowthGina M DeStefano, Mazen Kurban, Kwame Anyane-Yeboa, et al.
American Journal of Medical Genetics. Part A|September 25, 2023
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalitiesScott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, et al.
European Journal of Human Genetics : EJHG|July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genesNoor Smal, Fatma Majdoub, Katrien Janssens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndromeCarlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
JCI Insight|November 2, 2019
NK cell defects in X-linked pigmentary reticulate disorderPetro Starokadomskyy, Katelynn M Wilton, Konrad Krzewski, et al.
American Journal of Human Genetics|April 23, 2019
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and HypogonadismHilde Van Esch, Rita Colnaghi, Kathleen Freson, et al.
Plos Genetics|May 17, 2014
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowthGina M DeStefano, Mazen Kurban, Kwame Anyane-Yeboa, et al.
American Journal of Medical Genetics. Part A|September 25, 2023
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalitiesScott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, et al.
European Journal of Human Genetics : EJHG|July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genesNoor Smal, Fatma Majdoub, Katrien Janssens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndromeCarlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Pageof 4