L Bachner

Mapping of a gene for long QT syndrome to chromosome 4q25-27.

Jean‐Jacques Schott, Flavien Charpentier, S Peltier et al. · PubMed · 1995 · 358 citations

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen

Klaus Zerres, Gabi Mücher, L Bachner et al. · Nature Genetics · 1994 · 258 citations

Mendelian Disorder, Genetic Disorder, Medicine +11

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

Kemal Azlbi, L Bachner, J. Beckmann et al. · Human Molecular Genetics · 1993 · 101 citations

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

V. des Portes, J.-M. Pinard, Didier Smadja et al. · Journal of Medical Genetics · 1997 · 58 citations · Full text

Cytogenetics, Genetics, Dominant X +20

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.

Norma B. Romero, F.M.S. Tomé, France Leturcq et al. · PubMed · 1994 · 40 citations

Rare Diseases, Serum Creatine Kinase, Mendelian Disorder +12