This episode covers fragile X syndrome. Written notes can be found at https://zerotofinals.com/paediatrics/genetics/fragilex/ or in the genetics section in the Zero to Finals paediatrics book. The audio in the episode was expertly edited by Harry Watchman.
Sep 2022
Ep 106 Turner Syndrome: Let's talk about X
<p>Are you in the mood to chat chromosomes, specifically the X chromosome? If so, have we got the perfect episode for you! You may have come across the definition of Turner syndrome as a genetic condition resulting from the partial or complete loss of an X chromosome, but what do ... Show More
1h 28m
Mar 2022
Approach to Phenylketonuria
This podcast presents an approach to the diagnosis and management of phenylketonuria. This podcast was developed by Jennifer Butler and Umairah Boodoo, medical students at McMaster University, in collaboration with Dr Hannah Geddie, Assistant Professor and Pediatric Endocrinologi ... Show More
15m 39s
Apr 2025
Pediatrics Research Roundup, Difficult Conversations and Congenital Syphilis – Ep. 242
In this episode Rachel Moon, MD, FAAP, associate editor of digital media for the journal Pediatrics, shares a research roundup from the April issue. David Hill, MD, FAAP, and Joanna Parga-Belinkie, MD, FAAP, also speak with Adam Ratner, MD, MPH, FAAP, and Nitya Shah, MD, FAAP, ab ... Show More
31m 30s
<p class="" style="white-space:pre-wrap;">In this episode, we discuss the fundamentals and approaches to chronic management and treatment for patients with known inherited hemophilia. </p><p class="" style="white-space:pre-wrap;">Contents:</p><p class="" style="white-space:pre-wr ... Show More
