Helen P. Roper

Autosomal recessive inheritance of <i>RYR1</i> mutations in a congenital myopathy with cores

Heinz Jungbluth, C. R. Müller, B. Halliger–Keller et al. · Neurology · 2002 · 165 citations

Life Sciences, Genetics, Molecular Genetics +15

<i>MTO1</i> Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Enrico Baruffini, Cristina Dallabona, Federica Invernizzi et al. · Human Mutation · 2013 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease

Rehan Hameed, F. Raafat, Pratibha Ramani et al. · Postgraduate Medical Journal · 2001 · 25 citations · Full text

Medicine, Nephrology, Neurology +17

Variable Presentation of Primary Hyperoxaluria Type 1 in 2 Patients Homozygous for a Novel Combined Deletion and Insertion Mutation inExon 8 of the AGXT Gene

Christian von Schnakenburg, S.‐A. Hulton, David V. Milford et al. · ˜The œNephron journals/Nephron journals · 1998 · 24 citations

Life Sciences, Genetics, Molecular Genetics +16

Aplasia cutis congenita with chromosome 12q abnormality.

Jehanzeb Khan, Celia Moss, Helen P. Roper · Archives of Disease in Childhood Fetal & Neonatal · 1995 · 13 citations · Full text

Life Sciences, Genetics, Pediatrics +15