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George W Padberg

Showing results (41-50 of 46) with videos related to

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Nature Communications|June 13, 2015
De novo mutations in PLXND1 and REV3L cause Möbius syndromeLaura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G Jansen, 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.
Human Molecular Genetics|September 27, 2014
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2Richard J L F Lemmers, Jelle J Goeman, Patrick J van der Vliet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosisIsabelle Schrauwen, Hanne Valgaeren, Laura Tomas-Roca, et al.
Nature Genetics|November 13, 2012
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, et al.
Nature Genetics|June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresisAlan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.
Pageof 5

Showing results (41-50 of 46) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 46 results.
Nature Communications|June 13, 2015
De novo mutations in PLXND1 and REV3L cause Möbius syndromeLaura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G Jansen, 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.
Human Molecular Genetics|September 27, 2014
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2Richard J L F Lemmers, Jelle J Goeman, Patrick J van der Vliet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosisIsabelle Schrauwen, Hanne Valgaeren, Laura Tomas-Roca, et al.
Nature Genetics|November 13, 2012
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, et al.
Nature Genetics|June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresisAlan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.
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