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Frank J Kaiser

Showing results (41-50 of 101) with videos related to

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Plos Genetics|March 29, 2014
Coronary heart disease-associated variation in TCF21 disrupts a miR-224 binding site and miRNA-mediated regulationClint L Miller, Ulrike Haas, Roxanne Diaz, et al.
The Journal of Pathology|October 2, 2021
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvementAndrea Gangfuß, Artur Czech, Andreas Hentschel, et al.
European Journal of Medical Genetics|August 17, 2021
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare diseaseKatharina Khuller, Gökhan Yigit, Carolina Martínez Grijalva, et al.
Journal of Clinical Research in Pediatric Endocrinology|December 9, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange SyndromeÁngela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, et al.
Oncotarget|July 18, 2015
Nuclear cathepsin D enhances TRPS1 transcriptional repressor function to regulate cell cycle progression and transformation in human breast cancer cellsAnne-Sophie Bach, Danielle Derocq, Valérie Laurent-Matha, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 11, 2020
DNA Methylation as a Potential Molecular Mechanism in X-linked Dystonia-ParkinsonismChristin Krause, Susen Schaake, Karen Grütz, et al.
International Journal of Molecular Sciences|February 9, 2020
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial PhenotypesAna Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, et al.
Iscience|January 6, 2026
STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodelingMacarena Moronta Gines, Marja W Wessels, Valentina Casa, et al.
Clinical Genetics|October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorderNina B Gold, Dong Li, Anna Chassevent, et al.
Biomed Research International|March 1, 2016
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange SyndromeMaría E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
Pageof 11

Showing results (41-50 of 101) with videos related to

Sort By:
Pageof 11
Plos Genetics|March 29, 2014
Coronary heart disease-associated variation in TCF21 disrupts a miR-224 binding site and miRNA-mediated regulationClint L Miller, Ulrike Haas, Roxanne Diaz, et al.
The Journal of Pathology|October 2, 2021
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvementAndrea Gangfuß, Artur Czech, Andreas Hentschel, et al.
European Journal of Medical Genetics|August 17, 2021
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare diseaseKatharina Khuller, Gökhan Yigit, Carolina Martínez Grijalva, et al.
Journal of Clinical Research in Pediatric Endocrinology|December 9, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange SyndromeÁngela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, et al.
Oncotarget|July 18, 2015
Nuclear cathepsin D enhances TRPS1 transcriptional repressor function to regulate cell cycle progression and transformation in human breast cancer cellsAnne-Sophie Bach, Danielle Derocq, Valérie Laurent-Matha, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 11, 2020
DNA Methylation as a Potential Molecular Mechanism in X-linked Dystonia-ParkinsonismChristin Krause, Susen Schaake, Karen Grütz, et al.
International Journal of Molecular Sciences|February 9, 2020
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial PhenotypesAna Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, et al.
Iscience|January 6, 2026
STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodelingMacarena Moronta Gines, Marja W Wessels, Valentina Casa, et al.
Clinical Genetics|October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorderNina B Gold, Dong Li, Anna Chassevent, et al.
Biomed Research International|March 1, 2016
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange SyndromeMaría E Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, et al.
Pageof 11