S. M. Pueschel

Parental Imprinting of Human Chromosome Region 11p15.3-pter Involved in the Beckwith-Wiedemann Syndrome and Various Human Neoplasia

Marcel M. A. M. Mannens, J.M.N. Hoovers, E. Redeker et al. · European Journal of Human Genetics · 1994 · 108 citations

Beckwith-wiedemann Syndrome, Genetic Disorder, Genetics +8

Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

Rosanna Weksberg, Ikuko Teshima, Bryan Williams et al. · Human Molecular Genetics · 1993 · 99 citations

Atlanto-axial instability in children with Down syndrome

S. M. Pueschel, Francis H. Scola, Claire D. Perry et al. · Pediatric Radiology · 1981 · 99 citations

Down Syndrome, Developmental Anomaly, Thumb Hypoplasia +6

Behavioural observations in children with Down's syndrome

S. M. Pueschel, James C. Bernier, John C. Pezzullo · Journal of Intellectual Disability Research · 1991 · 72 citations

Thyroid function in down syndrome

S. M. Pueschel, Ivor M.D. Jackson, Peter Giesswein et al. · Research in Developmental Disabilities · 1991 · 65 citations

Down Syndrome, Thyroid Function, Iodine Deficiency Disorders +8