Examinant per Autoria "Thompson, Rachel"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era(BioMed Central, 2018) Thompson, Rachel; Abicht, Angela; Beeson, David; Engel, Andrew G.; Eymard, Bruno; Maxime, Emmanuel; Lochmüller, Hanns
Ítem Accés Obert Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity(Elsevier, 2020) Matalonga, Leslie; Laurie, Steven, 1973-; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis Alberto; Riess, Olaf; Gut, Ivo Glynne; van Ommen, Gert-Jan; Lochmüller, Hanns; Beltran, Sergi; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors
Ítem Accés Obert Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder(Wiley-VCH Verlag, 2019) Thompson, Rachel; Papakonstantinou, Anastasios; Beltran, Sergi; Topf, Ana; de Paula Estephan, Eduardo; Poloavarapu, Kiran; Hoen, Peter A. C.; Missier, Paolo; Lochmüller, Hanns
Ítem Accés Obert RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases(Nature Research, 2018) Lochmüller, Hanns; Badowska, Dorota M.; Thompson, Rachel; Knoers, Nine V.; Aartsma-Rus, Annemieke; Gut, Ivo Glynne; Wood, Libby; Harmuth, Tina; Durudas, Andre; Graessner, Holm; Schaefer, Franz; Riess, Olaf; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium
Ítem Accés Obert Severe neurodevelopmental disease caused by a homozygous TLK2 variant(Springer, 2020) Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven, 1973-; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita
Ítem Accés Obert Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome(Portland Press, 2019) Thompson, Rachel; Bonne, Gisèle; Missier, Paolo; Lochmüller, Hanns
Ítem Accés Obert Targeted therapies for metabolic myopathies related to glycogen storage and lipid metabolism: a systematic review and steps towards a 'Treatabolome'(IOS Press, 2021) Manta, Alexander; Spendiff, Sally; Lochmüller, Hanns; Thompson, Rachel