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Bernd Auber

Showing results (11-20 of 75) with videos related to

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Frontiers in Pediatrics|April 25, 2024
Current genetic diagnostics in inborn errors of immunitySandra von Hardenberg, Isabel Klefenz, Doris Steinemann, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?Astrid Behnert, Bernd Auber, Doris Steinemann, et al.
Clinical Lung Cancer|April 26, 2021
Pulmonary Cylindromas in CYLD Cutaneous Syndrome: A Rare Differential Diagnosis of Pulmonary Adenoid Cystic CarcinomaJudith E Bülau, Hans-Heinrich Kreipe, Ellen Jessen, et al.
Clinical Kidney Journal|November 2, 2023
Prevalence of pericardial effusion in autosomal dominant polycystic kidney diseaseJohanna Sophia Jost, Till Frederik Kaireit, Bernd Auber, et al.
Frontiers in Genetics|April 17, 2026
Functional inactivation of MDR3 caused by a homozygous <i>ABCB4</i> missense variant leading to liver failureSophia Heinrich, Annika Behrendt, Malte Sgodda, et al.
Pediatric Blood & Cancer|June 13, 2018
Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndromeLisa Pahl, Rita Beier, Nils von Neuhoff, et al.
Journal of Neurology|May 3, 2022
A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamicsAlma Osmanovic, Alisa Förster, Maylin Widjaja, et al.
Molecular Cytogenetics|March 17, 2009
Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardationBernd Auber, Verena Bruemmer, Barbara Zoll, et al.
Plos Computational Biology|September 21, 2022
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing lossDamianos P Melidis, Christian Landgraf, Gunnar Schmidt, et al.
American Journal of Medical Genetics. Part A|May 8, 2019
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1AMonika M Golas, Bernd Auber, Tim Ripperger, et al.
Pageof 8

Showing results (11-20 of 75) with videos related to

Sort By:
Pageof 8
Frontiers in Pediatrics|April 25, 2024
Current genetic diagnostics in inborn errors of immunitySandra von Hardenberg, Isabel Klefenz, Doris Steinemann, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?Astrid Behnert, Bernd Auber, Doris Steinemann, et al.
Clinical Lung Cancer|April 26, 2021
Pulmonary Cylindromas in CYLD Cutaneous Syndrome: A Rare Differential Diagnosis of Pulmonary Adenoid Cystic CarcinomaJudith E Bülau, Hans-Heinrich Kreipe, Ellen Jessen, et al.
Clinical Kidney Journal|November 2, 2023
Prevalence of pericardial effusion in autosomal dominant polycystic kidney diseaseJohanna Sophia Jost, Till Frederik Kaireit, Bernd Auber, et al.
Frontiers in Genetics|April 17, 2026
Functional inactivation of MDR3 caused by a homozygous <i>ABCB4</i> missense variant leading to liver failureSophia Heinrich, Annika Behrendt, Malte Sgodda, et al.
Pediatric Blood & Cancer|June 13, 2018
Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndromeLisa Pahl, Rita Beier, Nils von Neuhoff, et al.
Journal of Neurology|May 3, 2022
A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamicsAlma Osmanovic, Alisa Förster, Maylin Widjaja, et al.
Molecular Cytogenetics|March 17, 2009
Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardationBernd Auber, Verena Bruemmer, Barbara Zoll, et al.
Plos Computational Biology|September 21, 2022
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing lossDamianos P Melidis, Christian Landgraf, Gunnar Schmidt, et al.
American Journal of Medical Genetics. Part A|May 8, 2019
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1AMonika M Golas, Bernd Auber, Tim Ripperger, et al.
Pageof 8