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Rolph Pfundt

Showing results (61-70 of 286) with videos related to

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Clinical Genetics|August 27, 2022
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deteriorationGabriela Roldão Correia-Costa, Nicole de Leeuw, Rolph Pfundt, et al.
European Journal of Human Genetics : EJHG|October 20, 2011
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndromeBob Glaudemans, Helger G Yntema, Pedro San-Cristobal, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disabilityStefan Johansson, Siren Berland, Gyri Aasland Gradek, et al.
American Journal of Human Genetics|December 17, 2009
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia geneLudovica Volpi, Gaia Roversi, Elisa Adele Colombo, et al.
Brain : a Journal of Neurology|March 15, 2018
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-SaguenayMichael H Parkinson, Ana P Bartmann, Lisa M S Clayton, et al.
Nature Communications|October 27, 2023
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variationWouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, et al.
Journal of Human Genetics|July 26, 2006
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1David A Koolen, Jos Herbergs, Joris A Veltman, et al.
Epilepsia|April 18, 2014
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorderMarcella Zollino, Daniela Orteschi, Mariken Ruiter, et al.
European Journal of Human Genetics : EJHG|February 13, 2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathiesMaartje Pennings, Rowdy P P Meijer, Monique Gerrits, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiencyDespina Contopoulos-Ioannidis, Athanasios Evangeliou, Henk ter Laak, et al.
Pageof 29

Showing results (61-70 of 286) with videos related to

Sort By:
Pageof 29
Clinical Genetics|August 27, 2022
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deteriorationGabriela Roldão Correia-Costa, Nicole de Leeuw, Rolph Pfundt, et al.
European Journal of Human Genetics : EJHG|October 20, 2011
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndromeBob Glaudemans, Helger G Yntema, Pedro San-Cristobal, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disabilityStefan Johansson, Siren Berland, Gyri Aasland Gradek, et al.
American Journal of Human Genetics|December 17, 2009
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia geneLudovica Volpi, Gaia Roversi, Elisa Adele Colombo, et al.
Brain : a Journal of Neurology|March 15, 2018
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-SaguenayMichael H Parkinson, Ana P Bartmann, Lisa M S Clayton, et al.
Nature Communications|October 27, 2023
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variationWouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, et al.
Journal of Human Genetics|July 26, 2006
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1David A Koolen, Jos Herbergs, Joris A Veltman, et al.
Epilepsia|April 18, 2014
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorderMarcella Zollino, Daniela Orteschi, Mariken Ruiter, et al.
European Journal of Human Genetics : EJHG|February 13, 2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathiesMaartje Pennings, Rowdy P P Meijer, Monique Gerrits, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiencyDespina Contopoulos-Ioannidis, Athanasios Evangeliou, Henk ter Laak, et al.
Pageof 29