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This class was created by Brainscape user Keri Ramsey. Visit their profile to learn more about the creator.

Decks in this class (12)

Ataxia
What are the clinical features of...,
What is the genetic cause of frie...,
What are the gaa repeat lengths i...
15  cards
RASopathies
What are the clinical characteris...,
What are the clinical characteris...,
What is the mechanism of nf1
18  cards
Epilepsy
What are two types of epilepsies ...,
What are genes associated with ep...,
What are two types of epilepsies ...
18  cards
Muscular Dystrophy
What age does duchenne muscular d...,
At what age do duchenne muscular ...,
In duchenne and becker muscular d...
32  cards
Cardiac
What is amyloidosis,
What gene is associated with tran...,
What organs does transthyretin re...
10  cards
Gaucher Disease
What is the gene and mode of inhe...,
What is the aj carrier frequency ...,
What is the mechanism of gaucher ...
23  cards
Tay Sachs
What is a lysosome,
True or false most lsd are asympt...,
What is the gene and mode of inhe...
28  cards
Genodermatoses
What are the genes and mode of in...,
What are the skin findings in gor...,
What are the non skin findings in...
19  cards
Pediatric Oncology
What percent of childhood cancers...,
What are six childhood cancers th...,
When is an oncology referral to g...
30  cards
Hearing Loss
What is conductive hearing loss,
What is sensorineural hearing loss,
What is the frequency of prelingu...
21  cards
Skeletal Dysplasia
What is the frequency of achondro...,
What percentage of achondroplasia...,
What are the characteristics of h...
23  cards
Craniosynostosis Syndromes
What percentage of craniosynostos...,
What is the mechanism in fgfr2 re...,
Which suture is most commonly aff...
24  cards

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Human Genetics Spring 2023

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