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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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Magdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Magdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
American Journal of Human Genetics
|
January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848
Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
Human Mutation
|
October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.
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Showing results (161-170 of 165) with videos related to
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This site can display upto 165 results.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Magdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Magdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
American Journal of Human Genetics
|
January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848
Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
Human Mutation
|
October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.
Page
of 17