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Nikki Walano
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Decks in this class (18)
Alzheimer's Disease
Inheritance,
Risk to develop alzheimers disease,
How does having an affected 1st d...
4
cards
Advanced Paternal Age
The mutation rate is higher in me...,
The conditions most strongly asso...,
Advanced paternal age is associat...
6
cards
Screening for fetal aneuploidy and ONTD's
Ontds,
Factors that affect maternal seru...,
Diagnostic tests for fetal aneupl...
21
cards
Fragile X
True or false fragile x syndrome ...,
Mutation that causes fragile x,
Symptoms of fragile x syndrome
11
cards
Cytogenetic Evaluation of the Individual Developmental Delay or Mental Retardation
Intellectual disability is define...,
Intellectual disability levels mi...,
Global developmental delay dd is ...
4
cards
Carrier screening
What diseases should ashkenazi je...,
Carrier frequency for cystic fibr...,
Who should be screened for sickle...
14
cards
NIPT, otherwise known as "NIPS" lol
What chromosomes does nipt look at,
What should always be offered if ...,
What chromosomal abnormalities wo...
8
cards
Autism Spectrum Disorder
Recurrence risk for autism when o...,
What type of tests should be orde...
2
cards
Fetal skeletal dysplasias
Skeletal dysplasias,
Inheritance,
Homozygosity or compound heterozy...
4
cards
Factor V Leiden
What is factor v leiden,
Who should be tested,
Testing methods
5
cards
Osteogenesis Imperfecta (OI)
What is oi,
Other symptoms of oi,
Inheritance pattern in oi
7
cards
Hearing Loss
Prevalence,
True or false newborn hearing scr...,
95 of newborns with hearing loss ...
13
cards
Hemihyperplasia
What is hemihyperplasia,
What is a similar genetic disorde...,
How can you differentiate between...
7
cards
Carrier Screening in AJ population
What is the overall carrier rate ...,
Importance of the history of tay ...,
What diseases should be included ...
6
cards
Cancer Syndromes and Referral Indications
Carney complex,
Birt hogg dube syndrome bhd,
Constitutional mismatch repair de...
29
cards
Pompe Disease (diagnosis and management)
What is pompe disease also known ...,
Inheritance pattern,
History of pompe disease
8
cards
Referral indications
Prenatal preconception genetics,
Adult genetics,
Pediatric referrals
3
cards
Short Stature
Potential diagnoses of short stature,
Definition of short stature,
One of the most common pathologic...
5
cards
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ACMG Practice guidelines
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