May 2014 in “Journal of The American Academy of Dermatology” The project aimed to understand how genetic test results affect patients' actions and feelings in dermatology.
October 2024 in “Journal of the Endocrine Society” This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.
1 citations
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April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
April 2023 in “Anatomy Physiology & Biochemistry International Journal” This study identified specific genetic variations associated with polycystic ovarian syndrome in Karnataka, which may help improve diagnosis and treatment.
3 citations
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June 2004 in “Critical Care Nurse” This article reviews the importance of genomics in critical care nursing and highlights the need for nurses to understand genetic concepts and advancements to improve patient care, without providing new results.