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Bernt Popp

Showing results (51-60 of 86) with videos related to

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Human Molecular Genetics|May 11, 2023
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disordersSunwoo Lee, Lara Menzies, Eleanor Hay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short statureNadine N Hauer, Bernt Popp, Eva Schoeller, et al.
European Journal of Human Genetics : EJHG|February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureNadine N Hauer, Bernt Popp, Leila Taher, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 20, 2024
Integrated Use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools for Risk PrognosticationConstantin A Wolff, Valeria Aiello, Elhussein A E Elhassan, et al.
Nature Genetics|October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele, Georg Rosenberger, Kirsten Geider, et al.
International Journal of Cancer|January 30, 2019
TRIM28 haploinsufficiency predisposes to Wilms tumorIllja J Diets, Juliane Hoyer, Arif B Ekici, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
American Journal of Human Genetics|February 13, 2018
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris SyndromeGeorgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, et al.
Gastroenterology|December 15, 2023
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver DiseaseRia Schönauer, Dana Sierks, Melissa Boerrigter, et al.
Kidney International|June 1, 2022
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseasesFlorian J Wopperer, Karl X Knaup, Kira J Stanzick, et al.
Pageof 9

Showing results (51-60 of 86) with videos related to

Sort By:
Pageof 9
Human Molecular Genetics|May 11, 2023
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disordersSunwoo Lee, Lara Menzies, Eleanor Hay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short statureNadine N Hauer, Bernt Popp, Eva Schoeller, et al.
European Journal of Human Genetics : EJHG|February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureNadine N Hauer, Bernt Popp, Leila Taher, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 20, 2024
Integrated Use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools for Risk PrognosticationConstantin A Wolff, Valeria Aiello, Elhussein A E Elhassan, et al.
Nature Genetics|October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele, Georg Rosenberger, Kirsten Geider, et al.
International Journal of Cancer|January 30, 2019
TRIM28 haploinsufficiency predisposes to Wilms tumorIllja J Diets, Juliane Hoyer, Arif B Ekici, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
American Journal of Human Genetics|February 13, 2018
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris SyndromeGeorgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, et al.
Gastroenterology|December 15, 2023
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver DiseaseRia Schönauer, Dana Sierks, Melissa Boerrigter, et al.
Kidney International|June 1, 2022
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseasesFlorian J Wopperer, Karl X Knaup, Kira J Stanzick, et al.
Pageof 9