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American Journal of Medical Genetics. Part A|October 14, 2005
Asplenia in ATR-X syndrome: a second reportRonan T Leahy, Roy K Philip, Richard J Gibbons, et al.Pediatric Radiology|May 19, 2004
Central osteosclerosis with trichothiodystrophyEmma L Wakeling, Michele Cruwys, Mohnish Suri, et al.American Journal of Medical Genetics. Part A|March 18, 2026
Refinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic OdysseyNeel Kothari, Nora Shannon, Bara Erhayiem, et al.Developmental Medicine and Child Neurology|February 21, 2016
Longitudinal analysis of the neurological features of ataxia-telangiectasiaThomas J Jackson, Gabriel Chow, Mohnish Suri, et al.European Journal of Medical Genetics|August 2, 2022
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndromeGabriela Jones, Katie Johnson, Jacqueline Eason, et al.Archives of Disease in Childhood|August 31, 2016
Growth and nutrition in children with ataxia telangiectasiaEmma Stewart, Andrew P Prayle, Alison Tooke, et al.Journal of Food Protection|March 15, 2003
Behavior of enteroaggregative Escherichia coli in bottled spring and mineral waterPradeep Vasudevan, Thirunavukkarasu Annamalai, Luigi Sartori, et al.American Journal of Medical Genetics. Part A|January 19, 2006
A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindredLilei Zhang, Tao Wang, Alan F Wright, et al.Orphanet Journal of Rare Diseases|June 20, 2025
Quantification of liver fat fraction using T1-weighted mDixon MRI in young patients with ataxia telangiectasia undergoing whole-body MRI: an exploratory studySoma Kumasaka, Rafal Panek, Renata Neves, et al.Veterinary Microbiology|December 19, 2002
Phenotypic and genotypic characterization of bovine mastitis isolates of Staphylococcus aureus for biofilm formationPradeep Vasudevan, Manoj Kumar Mohan Nair, Thirunavukkarasu Annamalai, et al.Pageof 16