Variants in BSN , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.
Journal: medRxiv : the preprint server for health sciences
Year: February 24, 2025
Geneticist
5
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Maffucci Syndrome
Mosaicism
Ollier Disease
Vici Syndrome
Apolipoprotein C2 Deficiency
Autism Spectrum Disorder
Brachydactyly Mononen Type
Cataract
Cerebral Ventricle Cancer
Childhood Pancreatitis
Chondrodystrophy
Choroid Plexus Carcinoma
Congenital Cataract
Corpus Callosum Agenesis
Costello Syndrome
Epilepsy
Epilepsy in Children
Familial Dilated Cardiomyopathy
Familial Hypertriglyceridemia
Familial Hypertrophic Cardiomyopathy
Familial Lipoprotein Lipase Deficiency
Generalized Tonic-Clonic Seizure
Genetic Epilepsy with Febrile Seizures Plus (GEFS+)
Glucose Phosphate Isomerase Deficiency
Hemangioma
High Cholesterol
Hirsutism in Women
Horseshoe Kidney
Hypotonia
Leigh Syndrome
Li-Fraumeni Syndrome
Liver Failure
Metabolic Acidosis
Retinopathy Pigmentary Mental Retardation
Rhabdomyosarcoma
Saethre-Chotzen Syndrome
Schwartz-Jampel Syndrome
Seizures
Sitosterolemia
Splenomegaly
Tuberous Sclerosis
Tuberous Sclerosis Complex
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
X-Linked Spondyloepiphyseal Dysplasia Tarda
Xanthoma
Natasha J. Brown is a doctor who helps people with many different health problems. She knows a lot about rare conditions like Maffucci Syndrome, Ollier Disease, and Vici Syndrome. Natasha also helps patients with more common issues like Autism Spectrum Disorder, epilepsy, and high cholesterol.
Natasha is good at talking to patients and making them feel comfortable. She listens carefully to their concerns and explains things in a way that is easy to understand. Patients trust her because she is kind and caring.
To make sure she gives the best care, Natasha stays updated on the latest medical information and research. This helps her provide the most effective treatments for her patients. She works closely with other doctors and medical professionals to share knowledge and improve patient care.
Natasha's work has had a positive impact on many people's lives. She has helped patients manage their conditions better and improve their health. Her research on neurodevelopmental disorders has been published in a medical journal, showing her dedication to advancing medical knowledge.
In summary, Natasha J. Brown is a skilled and caring doctor who helps people with various health issues. She communicates well with patients, stays informed about the latest medical advancements, and collaborates with other professionals to provide excellent care. Her work has made a difference in the lives of many patients, showing her commitment to improving healthcare for all.
Journal: medRxiv : the preprint server for health sciences
Year: February 24, 2025
Natasha J. Brown is an amazing Geneticist! She was so kind and knowledgeable during my consultation. I highly recommend her.
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Natasha J. Brown is an exceptional Geneticist. She was thorough in her evaluation and provided me with personalized care. I am grateful for her expertise.
I had a great consultation with Natasha J. Brown. She is a knowledgeable Geneticist who made me feel comfortable throughout the process. Highly satisfied with her services.
Natasha J. Brown is a fantastic Geneticist. She was attentive and caring during my appointment. I felt confident in her expertise and recommendations.
I highly recommend Natasha J. Brown as a Geneticist. She was thorough, compassionate, and provided me with excellent care. Very satisfied with my experience.