C. Muller

发表

Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and

J. Afilalo, A. Vielle, A. Noegel, 2007 .

Central core disease: clinical, pathological, and genetic features

N. Laing, R. Quinlivan, C. Sewry, 2003, Archives of disease in childhood.

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.

M. Lehane, A. Urwyler, K. Keating, 1994, Human molecular genetics.

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

G. Comi, M. Lehane, A. Urwyler, 1998, American journal of human genetics.

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

C. Doriguzzi, U. Linz, K. Keating, 1993, Nature Genetics.

Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.

J. Oldenburg, A. Fregin, S. Rost, 2002, Blood.

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

G. Comi, A. Urwyler, J. Lunardi, 1998, Human mutation.

Theoretical expectations for deletional mutations in Duchenne muscular dystrophy.

G. Danieli, T. Grimm, C. Muller, 1988, American journal of medical genetics.

(mouse immunoglobulin genes/recombinant DNA/gene rearrangeme

C. Muller, Josef Hochtl, G. Hans, 2016 .

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

J. J. Shepherd, D. Sillence, L. Mestroni, 1994, Journal of medical genetics.