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Bernt Popp

Showing results (11-20 of 86) with videos related to

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Genes|January 21, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental DisordersInsa Halfmeyer, Tobias Bartolomaeus, Bernt Popp, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
Exome Pool-Seq in neurodevelopmental disordersBernt Popp, Arif B Ekici, Christian T Thiel, et al.
BMC Cancer|May 12, 2019
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disabilityBernt Popp, Abbas Agaimy, Cornelia Kraus, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblingsMoritz Hebebrand, Georgia Vasileiou, Mandy Krumbiegel, et al.
European Journal of Medical Genetics|August 24, 2025
Overview and expansion of CEP85L-associated lissencephalyIsabell Schumann, Rami Abou Jamra, Robin-Tobias Jauss, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|July 3, 2020
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variantsBernt Popp, Ramona Erber, Cornelia Kraus, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 10, 2020
Differential Coassembly of α1-GABA<sub>A</sub>Rs Associated with Epileptic EncephalopathySaad Hannan, Aida H B Affandi, Marielle Minere, et al.
European Journal of Human Genetics : EJHG|August 8, 2014
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and femalesBernt Popp, Svein I Støve, Sabine Endele, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2020
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genesRia Schönauer, Sebastian Baatz, Melanie Nemitz-Kliemchen, et al.
Orphanet Journal of Rare Diseases|February 13, 2019
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathyMoritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, et al.
Pageof 9

Showing results (11-20 of 86) with videos related to

Sort By:
Pageof 9
Genes|January 21, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental DisordersInsa Halfmeyer, Tobias Bartolomaeus, Bernt Popp, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
Exome Pool-Seq in neurodevelopmental disordersBernt Popp, Arif B Ekici, Christian T Thiel, et al.
BMC Cancer|May 12, 2019
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disabilityBernt Popp, Abbas Agaimy, Cornelia Kraus, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblingsMoritz Hebebrand, Georgia Vasileiou, Mandy Krumbiegel, et al.
European Journal of Medical Genetics|August 24, 2025
Overview and expansion of CEP85L-associated lissencephalyIsabell Schumann, Rami Abou Jamra, Robin-Tobias Jauss, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|July 3, 2020
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variantsBernt Popp, Ramona Erber, Cornelia Kraus, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 10, 2020
Differential Coassembly of α1-GABA<sub>A</sub>Rs Associated with Epileptic EncephalopathySaad Hannan, Aida H B Affandi, Marielle Minere, et al.
European Journal of Human Genetics : EJHG|August 8, 2014
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and femalesBernt Popp, Svein I Støve, Sabine Endele, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2020
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genesRia Schönauer, Sebastian Baatz, Melanie Nemitz-Kliemchen, et al.
Orphanet Journal of Rare Diseases|February 13, 2019
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathyMoritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, et al.
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