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M Nowaczyk

Showing results (211-220 of 216) with videos related to

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Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorderCosima M Schmid, Anne Gregor, Anna Ruiz, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
European Journal of Human Genetics : EJHG|April 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individualsDana E Layo-Carris, Emily E Lubin, Annabel K Sangree, et al.
American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, 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 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.
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Showing results (211-220 of 216) with videos related to

Sort By:
Pageof 22
You have reached the last page of results.This site can display upto 216 results.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorderCosima M Schmid, Anne Gregor, Anna Ruiz, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
European Journal of Human Genetics : EJHG|April 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individualsDana E Layo-Carris, Emily E Lubin, Annabel K Sangree, et al.
American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, 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 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.
Pageof 22