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American Journal of Human Genetics|June 28, 2000
An optimized set of human telomere clones for studying telomere integrity and architectureS J Knight, C M Lese, K S Precht, et al.
American Journal of Medical Genetics|June 24, 1998
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental originY Q Wu, V R Sutton, E Nickerson, et al.
Extracellular Vesicle|January 30, 2026
Neutrophil-derived extracellular vesicles in the plasma of alpha-1 antitrypsin deficient individuals reveal pro-inflammatory metabolic and transcriptomic signaturesZachary F Greenberg, Regina Oshins, Karina Serban, et al.
Human Molecular Genetics|January 15, 1999
The spectrum of mutations in UBE3A causing Angelman syndromeP Fang, E Lev-Lehman, T F Tsai, et al.
Neurology|August 1, 1996
X-linked malformations of neuronal migrationW B Dobyns, E Andermann, F Andermann, et al.
American Journal of Human Genetics|October 27, 1997
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndromeS K Shapira, C McCaskill, H Northrup, et al.
American Journal of Human Genetics|January 11, 1992
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21M J McGinniss, H H Kazazian, G Stetten, et al.
American Journal of Medical Genetics|September 15, 1993
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletionR T Zori, J R Lupski, Z Heju, et al.
American Journal of Medical Genetics|February 1, 1989
Diagnostic criteria for Walker-Warburg syndromeW B Dobyns, R A Pagon, D Armstrong, et al.
The New England Journal of Medicine|March 4, 1999
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorderB Grimbacher, S M Holland, J I Gallin, et al.
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