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Bernt Popp

Showing results (61-70 of 86) with videos related to

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Molecular Psychiatry|January 7, 2026
Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyJohannes R Lemke, Andrea Eoli, Ilona Krey, et al.
Clinical Genetics|July 3, 2021
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorderStephanie Oates, Michael Absoud, Sushma Goyal, et al.
Molecular Psychiatry|October 14, 2025
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyJohannes R Lemke, Andrea Eoli, Ilona Krey, et al.
American Journal of Human Genetics|March 31, 2022
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.
American Journal of Human Genetics|November 12, 2025
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.
Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.
American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.
American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
Pageof 9

Showing results (61-70 of 86) with videos related to

Sort By:
Pageof 9
Molecular Psychiatry|January 7, 2026
Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyJohannes R Lemke, Andrea Eoli, Ilona Krey, et al.
Clinical Genetics|July 3, 2021
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorderStephanie Oates, Michael Absoud, Sushma Goyal, et al.
Molecular Psychiatry|October 14, 2025
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyJohannes R Lemke, Andrea Eoli, Ilona Krey, et al.
American Journal of Human Genetics|March 31, 2022
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.
American Journal of Human Genetics|November 12, 2025
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.
Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.
American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.
American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
Pageof 9