Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Journal: HGG advances
Year: January 29, 2025
Geneticist
5
No OPD information available
Leigh Syndrome
Alternating Hemiplegia of Childhood
Cerebellar Hypoplasia
Cramp-Fasciculation Syndrome
Epilepsy
Hemiplegia
Hypotonia
Limb-Girdle Muscular Dystrophy
Nicole J. Lake is a female healthcare provider who helps people with various medical conditions like Leigh Syndrome, Alternating Hemiplegia of Childhood, Cerebellar Hypoplasia, Cramp-Fasciculation Syndrome, Epilepsy, Hemiplegia, Hypotonia, and Limb-Girdle Muscular Dystrophy.
Nicole J. Lake uses her special skills and treatments to care for patients. She is good at understanding and treating different health problems. Patients trust her because she listens to them carefully and explains things in a way they can understand. She is kind and caring, which makes people feel comfortable and safe in her care.
To make sure she provides the best care, Nicole J. Lake stays updated with the latest medical knowledge and research. This helps her offer the most effective treatments to her patients. She is always learning and improving to give the best care possible.
Nicole J. Lake works well with other medical professionals. She has good relationships with her colleagues and collaborates with them to provide comprehensive care to patients. This teamwork approach ensures that patients receive the best possible treatment and support.
Nicole J. Lake's work has had a positive impact on many patients' lives. She has helped diagnose and treat rare diseases, improving the health and quality of life for those affected. Her dedication and expertise have made a difference in the lives of many individuals and their families.
One of Nicole J. Lake's notable publications is "Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases." This research article shows her commitment to advancing medical knowledge and finding solutions for challenging health conditions.
Overall, Nicole J. Lake is a compassionate and skilled healthcare provider who goes above and beyond to help her patients lead healthier and happier lives.
Journal: HGG advances
Year: January 29, 2025
Nicole J. Lake is an amazing Geneticist who truly cares about her patients. She took the time to explain everything to me in a way that I could understand. Highly recommend her!
I had a great experience with Nicole J. Lake as my Geneticist. She was very knowledgeable and made me feel comfortable throughout the entire process. Thank you, Nicole!
Nicole J. Lake is a fantastic Geneticist. She was very thorough in her assessment and provided me with valuable insights into my genetic condition. I am grateful for her expertise.
I cannot thank Nicole J. Lake enough for her exceptional care as my Geneticist. She was compassionate, understanding, and went above and beyond to help me. Highly recommend her services!
Nicole J. Lake is a top-notch Geneticist in Parkville. She was attentive to my concerns and provided me with personalized care. I am very satisfied with the treatment I received from her.