Consultative and Diagnostic Medicine

Fingerprint Dive into the research topics where Consultative and Diagnostic Medicine is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.

zoledronic acid Medicine & Life Sciences
Breast Neoplasms Medicine & Life Sciences
letrozole Medicine & Life Sciences
Breast Medicine & Life Sciences
Bone Density Medicine & Life Sciences
Osteoporosis Medicine & Life Sciences
Postmenopausal Osteoporosis Medicine & Life Sciences
Mammography Medicine & Life Sciences

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Research Output 2000 2018

18 Citations (Scopus)

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic

Macklin, S., Durand, N., Atwal, P. & Hines, S., Mar 1 2018, In : Genetics in Medicine. 20, 3, p. 346-350 5 p.

Research output: Contribution to journal › Article

Hereditary Neoplastic Syndromes
Molecular Pathology
Genomics
Neoplasms
Patient Care
1 Citation (Scopus)

Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes

Macklin, S., Mohammed, A., Jackson, J., Hines, S. L., Atwal, P. S. & Caulfield, T., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Genomic Medicine.

Research output: Contribution to journal › Article

Hereditary Neoplastic Syndromes
Proteins
PTEN Phosphohydrolase
Exome
Health
1 Citation (Scopus)

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

Mohammad, A. N., Bruno, K. A., Hines, S. & Atwal, P. S., Jun 1 2018, In : Molecular Genetics and Metabolism Reports. 15, p. 11-14 4 p.

Research output: Contribution to journal › Article

Neuraminidase
Seizures
Mucolipidoses
N-Acetylneuraminic Acid
Dysostoses