Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.
Journal: Nature genetics
Year: September 13, 2024
Medical Geneticist
4.5
Luis A. Jurado-Perez
North Adelaide
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Services Offered by Luis A. Jurado-Perez
Mosaicism
Williams Syndrome
Achalasia Microcephaly Syndrome
Growth Hormone Deficiency (GHD)
Hypotonia
Microcephaly
Obesity
Obesity in Children
Acanthosis Nigricans
Acrokeratoelastoidosis of Costa
Acromicric Dysplasia
Aortopulmonary Window
Aplasia Cutis Congenita
Aplastic Anemia
About Of Luis A. Jurado-Perez
Luis A. Jurado-Perez is a male medical professional who helps people with various health conditions like Mosaicism, Williams Syndrome, and Growth Hormone Deficiency. He also treats issues such as Hypotonia, Microcephaly, and Obesity in Children. Luis is skilled in caring for patients with different rare diseases and genetic disorders.
Patients trust Luis A. Jurado-Perez because he communicates well with them, listens to their concerns, and explains things in a way they can understand. He shows kindness and compassion, making patients feel comfortable and cared for during their medical visits.
To stay updated with the latest medical knowledge and research, Luis A. Jurado-Perez regularly attends conferences, reads medical journals, and collaborates with other healthcare professionals. By staying informed, he can provide the best possible care for his patients.
Luis A. Jurado-Perez works closely with his colleagues and values teamwork in the medical field. He believes in sharing knowledge and experiences with other professionals to improve patient outcomes and advance medical research.
Through his dedication and expertise, Luis A. Jurado-Perez has positively impacted many patients' lives. His work has led to significant improvements in the health and well-being of individuals with complex medical conditions, giving hope and better quality of life to those in need.
One of Luis A. Jurado-Perez's notable publications is "Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy," published in Nature Genetics on September 13, 2024. This research contributes to the understanding of genetic disorders and may lead to better treatments in the future.
Publications by Luis A. Jurado-Perez
Patient Reviews for Luis A. Jurado-Perez
Emily Bishop
Luis A. Jurado-Perez is an amazing Medical Geneticist. He explained everything clearly and made me feel at ease throughout the process. Highly recommend!
Benjamin Hayes
I had a great experience with Luis A. Jurado-Perez. He is very knowledgeable and caring. I felt comfortable discussing my concerns with him.
Grace Shepherd
Dr. Jurado-Perez is a fantastic Medical Geneticist. He took the time to listen to my questions and provided thorough explanations. I left feeling reassured and informed.
Samuel Abbott
I am grateful for the expertise of Luis A. Jurado-Perez. He is a compassionate doctor who truly cares about his patients' well-being. Highly satisfied with the care I received.
Sophia Fisher
Luis A. Jurado-Perez is a top-notch Medical Geneticist. He is professional, kind, and attentive. I felt confident in his recommendations and guidance.
Elijah Walsh
Dr. Jurado-Perez is exceptional in his field. He made me feel comfortable and supported throughout my consultation. I appreciate his expertise and compassionate approach.
Isabella Cohen
I had a wonderful experience with Luis A. Jurado-Perez. He is a skilled Medical Geneticist who genuinely cares about his patients. I left feeling empowered and well-informed.
Frequently Asked Questions About Luis A. Jurado-Perez
What conditions does Luis A. Jurado-Perez specialize in as a Medical Geneticist?
Luis A. Jurado-Perez specializes in diagnosing and managing genetic disorders and conditions that have a hereditary component.
What services does Luis A. Jurado-Perez offer to patients seeking genetic counseling?
Luis A. Jurado-Perez offers genetic counseling services to individuals and families to help them understand their genetic risks, make informed decisions, and navigate the complexities of genetic testing.
How can patients schedule an appointment with Luis A. Jurado-Perez for genetic testing?
Patients can schedule an appointment with Luis A. Jurado-Perez for genetic testing by contacting his office directly or obtaining a referral from their primary care physician or specialist.
What are some common reasons patients seek consultation with Luis A. Jurado-Perez?
Patients commonly seek consultation with Luis A. Jurado-Perez for concerns related to family history of genetic disorders, prenatal genetic testing, carrier screening, and personalized risk assessment.
Does Luis A. Jurado-Perez provide follow-up care for patients diagnosed with genetic conditions?
Yes, Luis A. Jurado-Perez provides comprehensive follow-up care for patients diagnosed with genetic conditions, including ongoing monitoring, treatment recommendations, and coordination with other healthcare providers.
How does Luis A. Jurado-Perez stay up-to-date with the latest advancements in medical genetics?
Luis A. Jurado-Perez regularly attends conferences, participates in continuing education programs, and collaborates with other experts in the field to stay informed about the latest advancements in medical genetics and genetic testing technologies.
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