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Author Details

Robert A Saul
1966
48
19
PMIDPaper TitleJournal TitlePublished Year
30548960COMMENTARY-The Saul-Wilson syndrome from its early days until now.American Journal of Medical Genetics, Part A2019
28064391Survey of family history taking and genetic testing in pediatric practice.Journal of Community Genetics2017
27368358Beyond the Genetic Diagnosis: Providing Parents What They Want to Know.Pediatrics in Review2016
25232852Surveying the current landscape of clinical genetics residency training.Genetics in Medicine2015
26331191Molecular diagnostic testing.Genetics in Medicine2015
24232412Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.Genet Med2014
24254914Genetic services and attitudes in primary care pediatrics.American Journal of Medical Genetics, Part A2014
24026681A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.Human Molecular Genetics2014
24281367Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.Eur J Hum Genet2014
23208842Clinical utility of the X-chromosome array.American Journal of Medical Genetics, Part A2013
29776187Personalized medicine in primary care: the need for relevance.2013
24298130Epigenetics and primary care.Pediatrics2013
24298127Genetic and genomic literacy in pediatric primary care.Pediatrics2013
22869832Improving newborn screening follow-up in pediatric practices: quality improvement innovation network.Pediatrics2012
21518720Health supervision for children with fragile X syndrome.Pediatrics2011
19346958How best to use CGH arrays in the clinical setting.Genetics in Medicine2009
18060736Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.Genomics2008
18813135Fragile X syndrome detection in newborns-pilot study.Genetics in Medicine2008
17763823Cancer epidemiology and outcomes for the State of South Carolina.Journal of the South Carolina Medical Association, The2007
15887289Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.American Journal of Medical Genetics, Part A2005
16008240Columbine High School--April 20, 1999. What can I do to help my own community?Journal of the South Carolina Medical Association, The2005
15236414POMGnT1 gene alterations in a family with neurological abnormalities.Annals of Neurology2004
14556247Is Jaffe-Campanacci syndrome just a manifestation of neurofibromatosis type 1?American Journal of Medical Genetics, Part A2003
1139165022q13 deletion syndrome.Am J Med Genet2001
10607959Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop.American Journal of Medical Genetics2000
10559763Down syndrome clinic in a semi-rural setting.American Journal of Medical Genetics1999
9643287Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.J Med Genet1998
7784386Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21.Prenatal Diagnosis1995
8429429Molecular genetic advances in fragile X syndrome.Journal of Pediatrics1993
8291544Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype.American Journal of Medical Genetics1993
1353666Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion.American Journal of Medical Genetics1992
1727888Disseminated Nocardia transvalensis infection: an unusual opportunistic pathogen in severely immunocompromised patients.Journal of Infectious Diseases1992
1831169DNA fingerprinting: the utilization of minisatellite probes to detect a somatic mutation in the proteus syndrome.EXS1991
2309787A "new" skeletal dysplasia in two unrelated boys.American Journal of Medical Genetics1990
2921700Gastric outlet obstruction in chronic granulomatous disease.Journal of Pediatrics1989
3177476Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina.American Journal of Medical Genetics1988
3927727Noonan syndrome in a patient with hyperplasia of the myenteric plexuses and neurofibromatosis.American Journal of Medical Genetics1985
6881217Transport media for tissue specimens: a comparative study.American Journal of Medical Genetics1983
6958922Fragile X syndrome in South Carolina.Journal of the South Carolina Medical Association, The1982
7079023Mental retardation in the Bannayan syndrome.Pediatrics1982
6810692Hyperplasia of the myenteric plexus. Its association with early infantile megacolon and neurofibromatosis.1982
7034524Caffey's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance.1982
7355336Rhabdomyolysis in a patient with nonoliguric renal failure: similarities to the toxic-shock syndrome.Southern Medical Journal1980
6931942Amniocentesis and prenatal diagnosis in South Carolina: a collaborative report for the years 1976 to 1979.Journal of the South Carolina Medical Association, The1980
7420240Myositis with staphylococcal infections.Journal of Pediatrics1980
1147609Deterioration of high-moisture corn.1975
6031441Lactobacilli in ensiled high-moisture corn.1967
5914493Microbiology of ensiled high-moisture corn.1966
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The Johns Hopkins University School of Medicine
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UCL Institute of Ophthalmology, University College London
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College of Medicine, The Ohio State University
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