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Neurogenetics
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January 16, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorder
Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, et al.
Human Molecular Genetics
|
October 4, 2017
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue
Arjan F Theil, Imke K Mandemaker, Emile van den Akker, et al.
Journal of Medical Genetics
|
November 15, 2022
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, et al.
Human Mutation
|
September 18, 2010
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Denise Horn, Johannes Kapeller, Núria Rivera-Brugués, et al.
Journal of Medical Genetics
|
November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
European Journal of Human Genetics : EJHG
|
February 5, 2015
Next-generation sequencing in X-linked intellectual disability
Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
Nature Genetics
|
October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Sabine Endele, Georg Rosenberger, Kirsten Geider, et al.
European Journal of Human Genetics : EJHG
|
April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Suzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
American Journal of Human Genetics
|
March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
James T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
Journal of Medical Genetics
|
September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutations
Ute Moog, Kerstin Kutsche, Fanny Kortüm, et al.
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of 8
Search research articles
Search
Showing results (61-70 of 79) with videos related to
Sort By:
Page
of 8
Neurogenetics
|
January 16, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorder
Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, et al.
Human Molecular Genetics
|
October 4, 2017
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue
Arjan F Theil, Imke K Mandemaker, Emile van den Akker, et al.
Journal of Medical Genetics
|
November 15, 2022
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, et al.
Human Mutation
|
September 18, 2010
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Denise Horn, Johannes Kapeller, Núria Rivera-Brugués, et al.
Journal of Medical Genetics
|
November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
European Journal of Human Genetics : EJHG
|
February 5, 2015
Next-generation sequencing in X-linked intellectual disability
Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
Nature Genetics
|
October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Sabine Endele, Georg Rosenberger, Kirsten Geider, et al.
European Journal of Human Genetics : EJHG
|
April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Suzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
American Journal of Human Genetics
|
March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
James T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
Journal of Medical Genetics
|
September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutations
Ute Moog, Kerstin Kutsche, Fanny Kortüm, et al.
Page
of 8