Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Journal: American journal of human genetics
Year: August 06, 2023
Geneticist
5
No OPD information available
Autosomal Dominant Partial Epilepsy with Auditory Features
Fragile XE Syndrome
Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius
Spastic Paraplegia Type 11
46XX Testicular Disorder of Sex Development
Achalasia Microcephaly Syndrome
Acrofacial Dysostosis Rodriguez Type
Acrofrontofacionasal Dysostosis Syndrome
Acromicric Dysplasia
Autism Spectrum Disorder
Breast Enlargement In Males
Cortical Dysplasia
Crouzon Syndrome
Deafness Hypogonadism Syndrome
Delayed Growth
Dysostosis Peripheral
Epilepsy
Epilepsy in Children
Fragile X Syndrome
Hearing Loss
Increased Head Circumference
L1 Syndrome
Microcephaly
Orofaciodigital Syndrome 1
Spastic Paraplegia Type 2
Spastic Paraplegia Type 7
Treacher Collins Syndrome
Marie A. Shaw is a female medical professional who helps patients with various health conditions like epilepsy, Fragile X syndrome, hydrocephalus, spastic paraplegia, genetic disorders, autism, hearing loss, and more. She is skilled in treating these conditions and providing care to those in need.
Marie A. Shaw communicates with patients in a kind and understanding manner, making them feel comfortable and safe. Patients trust her because she listens to their concerns and provides clear explanations about their health issues and treatment options.
To stay updated with the latest medical knowledge, Marie A. Shaw regularly reads research articles, attends conferences, and collaborates with other medical professionals. This helps her provide the best possible care to her patients based on the most recent advancements in the field.
Marie A. Shaw works well with her colleagues, sharing information and expertise to ensure patients receive comprehensive care. She values teamwork and believes in a collaborative approach to healthcare, which benefits both patients and medical staff.
Through her dedication and expertise, Marie A. Shaw has positively impacted many patients' lives. Her work has improved the health and well-being of individuals with complex medical conditions, offering them hope and a better quality of life.
One of Marie A. Shaw's notable publications is "Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt," published in the American Journal of Human Genetics. This research contributes to the understanding of genetic disorders and may lead to improved treatments for affected individuals.
In summary, Marie A. Shaw is a compassionate and knowledgeable medical professional who provides expert care to patients with a wide range of health conditions. Through her dedication to staying informed and collaborating with colleagues, she continues to make a positive impact on the lives of those she treats.
Journal: American journal of human genetics
Year: August 06, 2023
Marie A. Shaw 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!
I had a great experience with Marie A. Shaw. She is very knowledgeable and compassionate. I felt comfortable discussing my genetic concerns with her. Excellent Geneticist!
Marie A. Shaw is a wonderful Geneticist who goes above and beyond for her patients. She provided me with personalized care and made me feel at ease throughout the process. Highly satisfied!
I cannot thank Marie A. Shaw enough for her expertise and support. She is a top-notch Geneticist who truly understands her field. I highly recommend her services to anyone in need.
Marie A. Shaw is an exceptional Geneticist who is dedicated to helping her patients. She was thorough in her explanations and made me feel comfortable during my appointments. Highly impressed!
I had a fantastic experience with Marie A. Shaw as my Geneticist. She was professional, caring, and knowledgeable. I felt confident in her abilities and grateful for her guidance. Highly recommend!