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Sabine Uhrig

Showing results (11-20 of 14) with videos related to

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European Journal of Human Genetics : EJHG|June 12, 2014
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.
European Journal of Human Genetics : EJHG|March 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, et al.
Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
Nature Genetics|December 29, 2009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CMichaela Auer-Grumbach, Andrea Olschewski, Lea Papić, et al.
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Showing results (11-20 of 14) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 14 results.
European Journal of Human Genetics : EJHG|June 12, 2014
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.
European Journal of Human Genetics : EJHG|March 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, et al.
Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
Nature Genetics|December 29, 2009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CMichaela Auer-Grumbach, Andrea Olschewski, Lea Papić, et al.
Pageof 2