Results 161 to 170 of about 1,221,619 (355)

Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open, 2023
Lenahan A, Yano S, Graham B, Sen K, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Medical Genetics: Penrose Honoured [PDF]

, 1973

openalex   +1 more source

Health Report [PDF]

, 2009
This Plan for Health is an unusual undertaking in two respects. It is part of the Go To 2040 regional master plan along with other human services components that have, historically, been outside the purview of planners, who are usually more concerned ...
Amanda LeBreche, D. Patrick Lenihan, Richard Sewell   +2 more
core  

Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data

Molecular Oncology, EarlyView.
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda   +12 more
wiley   +1 more source

Disrupting Essentialism in Medical Genetics Education. [PDF]

Med Sci Educ, 2022
Gingell G, Bergemann AD.
europepmc   +1 more source

Evaluation of KRAS and NRAS mutations in metastatic colorectal cancer: an 8‐year study of 10 754 patients in Turkey

Molecular Oncology, EarlyView.
This nationwide study evaluated KRAS and NRAS mutations in 10 754 Turkish patients with metastatic colorectal cancer. The results revealed a mutation frequency of 51.1%, with 46.6% having KRAS mutations, 4.5% having NRAS mutations, and 48.5% being wild‐type for both.
Gozde Kavgaci, Izzet Akiva, Yavuz Hakan Ozon, Hakan Berkil, Huseyin Karadayi, Omer Dizdar, Suayib Yalcin   +6 more
wiley   +1 more source

Basic concepts of medical genetics formal genetics, Part 3

Egyptian Journal of Medical Human Genetics, 2014
Mohammad Saad Zaghloul Salem
doaj   +1 more source

Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open, 2023
Poskanzer SA, Peña LDM, Niu Z, ACMG Therapeutics Committee6∗documents@acmg.net.   +3 more
europepmc   +1 more source

Some aspects of medical genetics in island populations. [PDF]

, 1971
C. A. Clarke
openalex   +1 more source

Landscape of BRAF transcript variants in human cancer

Molecular Oncology, EarlyView.
We investigate the annotation of BRAF variants, focusing on protein‐coding BRAF‐220 (formerly BRAF‐reference) and BRAF‐204 (BRAF‐X1). The IsoWorm pipeline allows us to quantify these variants in human cancer, starting from RNA‐sequencing data. BRAF‐204 is more abundant than BRAF‐220 and impacts patient survival.
Maurizio S. Podda, Danilo Tatoni, Gianluca Mattei, Alberto Magi, Romina D'Aurizio, Laura Poliseno   +5 more
wiley   +1 more source