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Journal of Genetic Disorders & Genetic Reports
|
February 25, 2017
Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis
Carolyn M Yrigollen, Laura Pacini, Veronica Nobile, et al.
Journal of Applied Research in Intellectual Disabilities : JARID
|
February 4, 2021
Inequities in diagnosis of Fragile X syndrome in Colombia
Wilmar Saldarriaga-Gil, Ana Maria Cabal-Herrera, Andrés Fandiño-Losada, et al.
Genetic Testing and Molecular Biomarkers
|
October 9, 2009
High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique
Jennifer Yuhas, Paulina Walichiewicz, Ruiqin Pan, et al.
Plos One
|
September 13, 2011
Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome
Reinhard Stöger, Diane P Genereux, Randi J Hagerman, et al.
Plos One
|
April 16, 2015
Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan
Madiha Kanwal, Saadia Alyas, Muhammad Afzal, et al.
Molecular Genetics & Genomic Medicine
|
August 28, 2019
The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity
Esther Manor, Raphael Gonen, Benjamin Sarussi, et al.
Frontiers in Molecular Biosciences
|
January 29, 2021
Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement
Danuta Z Loesch, Flora Tassone, Anna Atkinson, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2004
Paternal transmission of fragile X syndrome
Susan Zeesman, Lonnie Zwaigenbaum, Donald T Whelan, et al.
Molecular Genetics & Genomic Medicine
|
January 4, 2020
Developmental aspects of FXAND in a man with the FMR1 premutation
Ellery Santos, Chinelo Emeka-Nwonovo, Jun Yi Wang, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
September 18, 2020
Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder
Wilmar Saldarriaga, César Payán-Gómez, Laura Yuriko González-Teshima, et al.
Page
of 35
Search research articles
Search
Showing results (101-110 of 348) with videos related to
Sort By:
Page
of 35
Journal of Genetic Disorders & Genetic Reports
|
February 25, 2017
Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis
Carolyn M Yrigollen, Laura Pacini, Veronica Nobile, et al.
Journal of Applied Research in Intellectual Disabilities : JARID
|
February 4, 2021
Inequities in diagnosis of Fragile X syndrome in Colombia
Wilmar Saldarriaga-Gil, Ana Maria Cabal-Herrera, Andrés Fandiño-Losada, et al.
Genetic Testing and Molecular Biomarkers
|
October 9, 2009
High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique
Jennifer Yuhas, Paulina Walichiewicz, Ruiqin Pan, et al.
Plos One
|
September 13, 2011
Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome
Reinhard Stöger, Diane P Genereux, Randi J Hagerman, et al.
Plos One
|
April 16, 2015
Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan
Madiha Kanwal, Saadia Alyas, Muhammad Afzal, et al.
Molecular Genetics & Genomic Medicine
|
August 28, 2019
The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity
Esther Manor, Raphael Gonen, Benjamin Sarussi, et al.
Frontiers in Molecular Biosciences
|
January 29, 2021
Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement
Danuta Z Loesch, Flora Tassone, Anna Atkinson, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2004
Paternal transmission of fragile X syndrome
Susan Zeesman, Lonnie Zwaigenbaum, Donald T Whelan, et al.
Molecular Genetics & Genomic Medicine
|
January 4, 2020
Developmental aspects of FXAND in a man with the FMR1 premutation
Ellery Santos, Chinelo Emeka-Nwonovo, Jun Yi Wang, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
September 18, 2020
Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder
Wilmar Saldarriaga, César Payán-Gómez, Laura Yuriko González-Teshima, et al.
Page
of 35