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4 in total

1. Clinical utility gene card for: Multi-minicore disease.

Authors: Suzanne Lillis; Steve Abbs; Ana Ferreiro; Francesco Muntoni; Heinz Jungbluth
Journal: Eur J Hum Genet Date: 2011-10-19 Impact factor: 4.246

2. Clinical utility gene card for: Central core disease.

Authors: Suzanne Lillis; Stephen Abbs; Clemens R Mueller; Francesco Muntoni; Heinz Jungbluth
Journal: Eur J Hum Genet Date: 2011-10-12 Impact factor: 4.246

3. Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Authors: Haiyan Zhou; Suzanne Lillis; Ryan E Loy; Farshid Ghassemi; Michael R Rose; Fiona Norwood; Kerry Mills; Safa Al-Sarraj; Russell J M Lane; Lucy Feng; Emma Matthews; Caroline A Sewry; Stephen Abbs; Stefan Buk; Michael Hanna; Susan Treves; Robert T Dirksen; Gerhard Meissner; Francesco Muntoni; Heinz Jungbluth
Journal: Neuromuscul Disord Date: 2010-01-18 Impact factor: 4.296

4. Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.

Authors: Thais Cuperman; Stephanie A Fernandes; Naila C V Lourenço; Lydia U Yamamoto; Helga C A Silva; Rita C M Pavanello; Guilherme L Yamamoto; Mayana Zatz; Acary S B Oliveira; Mariz Vainzof
Journal: BMC Res Notes Date: 2014-08-01

4 in total