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22q13 deletion syndrome: making peace with the science and the syndrome
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Is “PMS-SHANK3 unrelated” truly unrelated to SHANK3? Maybe not.
A simplified explanation of unbalanced translocations
Why PMS is worse for people with larger deletions
SHANK3 Haploinsufficiency and Gene Therapy
PMS Gene PHF21B is critical for normal brain development
CELSR1: Do some people with PMS have more fragile brains?
Have we found the gene that causes Lymphedema?
How to read your child’s genetic report: help for Phelan-McDermid syndrome parents
The four types of Phelan McDermid syndrome
New science: SULT4A1, oxidative stress and mitochondria disorder
The future of genetic treatments for PMS
Regression and psychiatric dysfunction in PMS
22q13: a hotbed for autism and intellectual disability genes?
PMS for Dummies
Which genes cause brain abnormalities in Phelan McDermid syndrome?
PMS, IQ and why interstitial deletions matter
MAPK8IP2 (IB2) may explain the major problems with walking and hand use
TCF20 may explain why some big deletions are worse than others
Current trends in SHANK3 research
Does SHANK3 cause Autism?
What do we know about PMS genes?
Which PMS genes are most important?
Are children with Phelan McDermid syndrome insensitive to pain?
Looking for opportunities
Splitting, Lumping and Clustering
David’s Video Player
Defining Phelan McDermid syndrome
Why don’t we have better drugs for 22q13 deletion syndrome?
What do parents want to know?
Is 22q13 deletion syndrome a mitochondrial disorder?
Educating children with 22q13 deletion syndrome
How to fix SHANK3
Have you ever met a child like mine?
How do I know which genes are missing?
Mouse models
How can the same deletion have such different consequences?
The hope of precision medicine
How do we know which genes are important?
Hypotonia
Understanding gene size
Gene deletion versus mutation
Understanding translocations in 22q13 deletion syndrome: genetics and evolution
Understanding deletion size
22q13 deletion syndrome – an introduction
Who is arm22q13?
How to read a genetic report: examples from Phelan-McDermid syndrome (PMS)
How to read a genetic report: examples from Phelan-McDermid syndrome (PMS)
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