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American Journal of Human Genetics
|
July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
Anne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
Franziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Nature Genetics
|
January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 27, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
Enrico D H Konrad, Niels Nardini, Almuth Caliebe, et al.
European Journal of Human Genetics : EJHG
|
December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder
Cosima M Schmid, Anne Gregor, Anna Ruiz, et al.
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of 4
Search research articles
Search
Showing results (31-40 of 35) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 35 results.
American Journal of Human Genetics
|
July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
Anne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
Franziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Nature Genetics
|
January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 27, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
Enrico D H Konrad, Niels Nardini, Almuth Caliebe, et al.
European Journal of Human Genetics : EJHG
|
December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder
Cosima M Schmid, Anne Gregor, Anna Ruiz, et al.
Page
of 4