E Plöchl

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke et al. · The American Journal of Human Genetics · 2001 · 234 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +4

Glutaric aciduria type I: ultrasonographic demonstration of early signs

Rosemarie Forstner, Georg F. Hoffmann, Ingemar Gassner et al. · Pediatric Radiology · 1999 · 57 citations

Urogenital Radiology, Glutaric Aciduria Type, Medicine +5

HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q

Grant A. Mitchell, Pinar T. Ozand, Marie‐France Robert et al. · The American Journal of Human Genetics · 1998 · 46 citations · Full text

Biology, Allelic Variant, Mendelian Disorder +9

Spontaneous growth in turner syndrome: Evidence for a minor pubertal growth spurt

G. Haeusler, M. Schemper, H Frisch et al. · European Journal of Pediatrics · 1992 · 45 citations

Developmental Anomaly, Spontaneous Growth, Developmental Biology +5

Growth hormone in combination with anabolic steroids in patients with Turner syndrome: effect on bone maturation and final height.

G. Haeusler, Klaus Schmitt, Peter Blümel et al. · PubMed · 1996 · 43 citations

Bone Maturation, Final Height, Growth Hormone +13