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Bernt Popp

Showing results (41-50 of 86) with videos related to

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Journal of the American Society of Nephrology : JASN|July 28, 2018
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease RecognitionKarl X Knaup, Thomas Hackenbeck, Bernt Popp, et al.
American Journal of Human Genetics|March 13, 2012
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disabilityJuliane Hoyer, Arif B Ekici, Sabine Endele, et al.
European Journal of Medical Genetics|July 1, 2018
Is MED13L-related intellectual disability a recognizable syndrome?Pernille Mathiesen Tørring, Martin Jakob Larsen, Charlotte Brasch-Andersen, et al.
American Journal of Human Genetics|September 13, 2016
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic FeaturesAnide Johansen, Rasim O Rosti, Damir Musaev, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2021
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individualsPia Zacher, Thomas Mayer, Frank Brandhoff, et al.
Hypertension (Dallas, Tex. : 1979)|August 7, 2025
Somatic Mutations in <i>MCOLN3</i> Are Associated With Aldosterone-Producing AdenomasDesmaré van Rooyen, Sascha Bandulik, Grace A Coon, et al.
American Journal of Medical Genetics. Part A|November 25, 2022
Genetic and phenotypic spectrum in the NONO-associated syndromic disorderFranziska Roessler, Anita E Beck, Ball Susie, et al.
Cancer Communications (London, England)|October 20, 2023
Tumor microenvironment-dependent epigenetic imprinting in the vasculature predicts colon cancer outcomeElisabeth Naschberger, Maximilian Fuchs, Nicholas Dickel, et al.
Brain Communications|November 3, 2021
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian E Alecu, Barbara Brechmann, et al.
European Journal of Human Genetics : EJHG|January 12, 2022
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsiesJulian Schröter, Bernt Popp, Heiko Brennenstuhl, et al.
Pageof 9

Showing results (41-50 of 86) with videos related to

Sort By:
Pageof 9
Journal of the American Society of Nephrology : JASN|July 28, 2018
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease RecognitionKarl X Knaup, Thomas Hackenbeck, Bernt Popp, et al.
American Journal of Human Genetics|March 13, 2012
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disabilityJuliane Hoyer, Arif B Ekici, Sabine Endele, et al.
European Journal of Medical Genetics|July 1, 2018
Is MED13L-related intellectual disability a recognizable syndrome?Pernille Mathiesen Tørring, Martin Jakob Larsen, Charlotte Brasch-Andersen, et al.
American Journal of Human Genetics|September 13, 2016
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic FeaturesAnide Johansen, Rasim O Rosti, Damir Musaev, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2021
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individualsPia Zacher, Thomas Mayer, Frank Brandhoff, et al.
Hypertension (Dallas, Tex. : 1979)|August 7, 2025
Somatic Mutations in <i>MCOLN3</i> Are Associated With Aldosterone-Producing AdenomasDesmaré van Rooyen, Sascha Bandulik, Grace A Coon, et al.
American Journal of Medical Genetics. Part A|November 25, 2022
Genetic and phenotypic spectrum in the NONO-associated syndromic disorderFranziska Roessler, Anita E Beck, Ball Susie, et al.
Cancer Communications (London, England)|October 20, 2023
Tumor microenvironment-dependent epigenetic imprinting in the vasculature predicts colon cancer outcomeElisabeth Naschberger, Maximilian Fuchs, Nicholas Dickel, et al.
Brain Communications|November 3, 2021
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian E Alecu, Barbara Brechmann, et al.
European Journal of Human Genetics : EJHG|January 12, 2022
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsiesJulian Schröter, Bernt Popp, Heiko Brennenstuhl, et al.
Pageof 9