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Nature Genetics|March 1, 1995
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina, R Shiang, L M Thompson, et al.
Genetic Epidemiology|January 5, 2002
Testing candidate genes for non-syndromic oral clefts using a case-parent trio designTerri H Beaty, J B Hetmanski, J S Zeiger, et al.
Human Genetics|August 11, 1992
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) geneL Osborne, G Santis, M Schwarz, et al.
Human Molecular Genetics|June 9, 1998
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndromeD Vollrath, V L Jaramillo-Babb, M V Clough, et al.
Arthroplasty Today|January 31, 2024
The Hip-spine Assessment of a Novel Surgical Planning Software Provides Acetabular Component Targets That Are Reliable and in Agreement With Current Clinical RecommendationsEmily I McIntosh, Nana O Sarpong, John R Steele, et al.
American Journal of Medical Genetics|June 22, 1999
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3G A Bellus, M J Bamshad, K A Przylepa, et al.
JAMIA Open|April 10, 2025
A proof-of-concept study for patient use of open notes with large language modelsLiz Salmi, Dana M Lewis, Jennifer L Clarke, et al.
Oncotarget|January 27, 2018
17-β-Estradiol induces spreading depression and pain behavior in alert female ratsAlexander J Sandweiss, Karissa E Cottier, Mary I McIntosh, et al.
Archives of Otolaryngology--Head & Neck Surgery|September 15, 2001
Auditory dysfunction in Stickler syndromeY M Szymko-Bennett, M A Mastroianni, L I Shotland, et al.
North American Actuarial Journal : NAAJ|April 5, 2016
Familial Risk for Exceptional LongevityPaola Sebastiani, Stacy L Andersen, Avery I McIntosh, et al.
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