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Maja Hempel

Showing results (11-20 of 125) with videos related to

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American Journal of Medical Genetics. Part A|April 25, 2013
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2Nabeel J M Salem, Maja Hempel, Katrin-Janine Heiliger, et al.
American Journal of Medical Genetics. Part A|June 18, 2025
Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A-Related Neurodevelopmental Disorder Spectrum: A Case ReportSebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, et al.
Molecular Genetics and Metabolism Reports|December 9, 2020
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiencyLara M Marten, Florian Brinkert, Desirée E C Smith, et al.
Journal of Pediatric Genetics|November 6, 2019
Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous <i>PLPBP</i> Missense VariantJessika Johannsen, Tatjana Bierhals, Philipp Deindl, et al.
European Journal of Medical Genetics|January 8, 2011
3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndromeKonrad Oexle, Maja Hempel, Anna Jauch, et al.
Acta Neurochirurgica|March 28, 2013
Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastomaJens Gempt, Sachin S Baldawa, Gregor Weirich, et al.
Neurology. Genetics|September 25, 2025
Homozygous <i>DBX1</i> Nonsense Variant in a Case of Atypical Congenital Central HypoventilationAmelie T van der Ven, Maja Hempel, Claas Kruse, et al.
American Journal of Human Genetics|October 6, 2018
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental DisorderFrederike L Harms, Katja Kloth, Annette Bley, et al.
American Journal of Medical Genetics. Part A|August 14, 2009
Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterizationMaja Hempel, Nuria Rivera Brugués, Janine Wagenstaller, et al.
Frontiers in Neurology|July 24, 2025
Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP riskSimone Pelizzari, Marta Campiglio, Yousra El Ghaleb, et al.
Pageof 13

Showing results (11-20 of 125) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics. Part A|April 25, 2013
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2Nabeel J M Salem, Maja Hempel, Katrin-Janine Heiliger, et al.
American Journal of Medical Genetics. Part A|June 18, 2025
Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A-Related Neurodevelopmental Disorder Spectrum: A Case ReportSebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, et al.
Molecular Genetics and Metabolism Reports|December 9, 2020
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiencyLara M Marten, Florian Brinkert, Desirée E C Smith, et al.
Journal of Pediatric Genetics|November 6, 2019
Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous <i>PLPBP</i> Missense VariantJessika Johannsen, Tatjana Bierhals, Philipp Deindl, et al.
European Journal of Medical Genetics|January 8, 2011
3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndromeKonrad Oexle, Maja Hempel, Anna Jauch, et al.
Acta Neurochirurgica|March 28, 2013
Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastomaJens Gempt, Sachin S Baldawa, Gregor Weirich, et al.
Neurology. Genetics|September 25, 2025
Homozygous <i>DBX1</i> Nonsense Variant in a Case of Atypical Congenital Central HypoventilationAmelie T van der Ven, Maja Hempel, Claas Kruse, et al.
American Journal of Human Genetics|October 6, 2018
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental DisorderFrederike L Harms, Katja Kloth, Annette Bley, et al.
American Journal of Medical Genetics. Part A|August 14, 2009
Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterizationMaja Hempel, Nuria Rivera Brugués, Janine Wagenstaller, et al.
Frontiers in Neurology|July 24, 2025
Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP riskSimone Pelizzari, Marta Campiglio, Yousra El Ghaleb, et al.
Pageof 13