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Rolph Pfundt

Showing results (51-60 of 286) with videos related to

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Clinical Dysmorphology|June 9, 2006
A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardationMariken Ruiter, David A Koolen, Rolph Pfundt, et al.
Plos One|April 7, 2022
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central BrazilAna Julia da Cunha Leite, Irene Plaza Pinto, Nico Leijsten, et al.
Plos Computational Biology|April 28, 2010
Accurate distinction of pathogenic from benign CNVs in mental retardationJayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, et al.
Plos Genetics|March 18, 2015
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disordersTallulah Andrews, Stephen Meader, Anneke Vulto-van Silfhout, et al.
European Journal of Medical Genetics|June 15, 2016
Duplications of SLC1A3: Associated with ADHD and autismClaudia J M van Amen-Hellebrekers, Sandra Jansen, Rolph Pfundt, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|January 26, 2006
No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridizationLambertus A Kiemeney, Roland P Kuiper, Rolph Pfundt, et al.
Human Molecular Genetics|December 10, 2015
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderElliot Sollis, Sarah A Graham, Arianna Vino, et al.
International Medical Case Reports Journal|October 29, 2020
A de novo <i>CTNNB1</i> Novel Splice Variant in an Adult Female with Severe Intellectual DisabilityWillem M A Verhoeven, Jos I M Egger, Rob E Jongbloed, et al.
Molecular Cytogenetics|January 10, 2014
Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profilingMarian Jpl Stevens-Kroef, Eva van den Berg, Daniel Olde Weghuis, et al.
Blood|October 16, 2009
Chemokine induction by all-trans retinoic acid and arsenic trioxide in acute promyelocytic leukemia: triggering the differentiation syndromeMaaike Luesink, Jeroen L A Pennings, Willemijn M Wissink, et al.
Pageof 29

Showing results (51-60 of 286) with videos related to

Sort By:
Pageof 29
Clinical Dysmorphology|June 9, 2006
A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardationMariken Ruiter, David A Koolen, Rolph Pfundt, et al.
Plos One|April 7, 2022
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central BrazilAna Julia da Cunha Leite, Irene Plaza Pinto, Nico Leijsten, et al.
Plos Computational Biology|April 28, 2010
Accurate distinction of pathogenic from benign CNVs in mental retardationJayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, et al.
Plos Genetics|March 18, 2015
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disordersTallulah Andrews, Stephen Meader, Anneke Vulto-van Silfhout, et al.
European Journal of Medical Genetics|June 15, 2016
Duplications of SLC1A3: Associated with ADHD and autismClaudia J M van Amen-Hellebrekers, Sandra Jansen, Rolph Pfundt, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|January 26, 2006
No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridizationLambertus A Kiemeney, Roland P Kuiper, Rolph Pfundt, et al.
Human Molecular Genetics|December 10, 2015
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderElliot Sollis, Sarah A Graham, Arianna Vino, et al.
International Medical Case Reports Journal|October 29, 2020
A de novo <i>CTNNB1</i> Novel Splice Variant in an Adult Female with Severe Intellectual DisabilityWillem M A Verhoeven, Jos I M Egger, Rob E Jongbloed, et al.
Molecular Cytogenetics|January 10, 2014
Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profilingMarian Jpl Stevens-Kroef, Eva van den Berg, Daniel Olde Weghuis, et al.
Blood|October 16, 2009
Chemokine induction by all-trans retinoic acid and arsenic trioxide in acute promyelocytic leukemia: triggering the differentiation syndromeMaaike Luesink, Jeroen L A Pennings, Willemijn M Wissink, et al.
Pageof 29