Genetic disorders

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genetics
genetics
07/04/2022
Fabry disease affects multiple bodily systems. Do you know which systems are impacted the most?
07/04/2022
Photoclinic
Photoclinic
06/27/2022

Miriam Matthews1 • Laura Rosas, MD2 • Lynnette Mazur, MD, MPH3

Miriam Matthews1 • Laura Rosas, MD2 • Lynnette Mazur, MD, MPH3
AFFILIATIONS:1Medical Student, University College Dublin, Dublin, Ireland2Resident Physician, Psychiatry Department, University of Chicago, Chicago, IL3Professor Emeritus, McGovern Medical School, Houston,...
06/27/2022
genetics
genetics
05/03/2022
New research investigated the nervous system cell types in which putative migraine-associated genes are expressed. Lead author William Renthal, MD, PhD, answers our questions about this research.
05/03/2022

Interactive Features

genetics
genetics
07/04/2022
Fabry disease affects multiple bodily systems. Do you know which systems are impacted the most?
07/04/2022
Pediatrics
Pediatrics
04/13/2022
In this new interactive quiz, we present a case of a 4-month-old girl who presents with signs of joint pain and hyperpigmentation of the skin over the joints. Can you take the correct diagnostic steps and...
04/13/2022
genetics
genetics
03/06/2022
Epilepsy is often genetic and can be passed on to children. Do you believe genetic testing has a role in epilepsy management? Take our poll to voice your opinion!
03/06/2022
Genetic disorders
Genetic disorders
03/11/2020
Infantile systemic hyalinosis typically results in death by which age? Take the quick quiz and find out.
03/11/2020
genetics
genetics
02/14/2020
When do clinical manifestations of antiphospholipid syndrome become apparent? Take our quick quiz and find out.
02/14/2020

Clinical Insights

genetics
genetics
05/03/2022
New research investigated the nervous system cell types in which putative migraine-associated genes are expressed. Lead author William Renthal, MD, PhD, answers our questions about this research.
05/03/2022
genetics
genetics
01/27/2020
Mingyu Liang, MB, PhD, answers our questions about his research into the dark genome’s function in hypertension.
01/27/2020
Adrenal Disorders
Phyllis Speiser, MD
Adrenal Disorders
01/22/2020
Dr Speiser answers our questions about the Endocrine Society’s 2018 clinical practice guideline for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
01/22/2020
Genetics
Marylyn Ritchie, PhD
Genetics
02/02/2018
Marylyn Ritchie, PhD, discusses how genome sequencing can help patients learn about their family history, their risk levels for certain diseases, and their likely responses to a variety of drug treatments. ...
02/02/2018
Genetics
Genetics
09/18/2015
Alison Goate, DPhil, answered our questions about her research on the role of genetics in Alzheimer disease onset, a topic she will also be presenting at 144th Annual Meeting of the American Neurological...
09/18/2015