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Kathryn Kudlaty
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Decks in this class (18)
11/2- Intro to Course and Concepts
What is a locus,
What are alleles,
Define the following homozygous h...
36
cards
11/3- Dysmorphic Features
What is dysmorphology,
What are some causes reasons for ...,
What are some ground rules for dy...
47
cards
11/3- Disorders of Sexual Development
What are the 3 major components o...,
What are the main steps of sexual...,
What is the main gene responsible...
43
cards
11/4- Can You Hear Me Now
_ how many __ genes are involved ...,
What are the 3 types of hearing loss,
When many genes can each cause th...
25
cards
11/5- Genetic Counseling and Risk
In what ways are genetic conditio...,
What is genetic counseling what a...,
What are indications for genetic ...
32
cards
11/5- Prenatal Genetics
What are some prenatal screening ...,
What are some methods of prenatal...,
What are some forms of preconcept...
123
cards
11/6- Inborn Errors of Metabolism 1 & 2
What is alkaptonuria,
Describe the epidemiology of inbo...,
What are predominant signs sympto...
71
cards
11/9- Neurogenetic Disorders in Adults
Of the following categories of ge...,
What is the approach classificati...,
What are dementia conditions affe...
38
cards
11/10- Cancer Genetics
Brief history of oncogenes,
What is a proto oncogene oncogene,
Oncogenes have diverse functions ...
99
cards
11/11- Neurogenetic Disorders in Pediatrics
What are nucleotide repeat disorders,
What are examples of nucleotide r...,
Where is the huntington gene loca...
48
cards
11/12- Chromosomal Disorders
What are the signs symptoms of tr...,
What is the recurrence risk for t...,
What are the clinical features of...
40
cards
11/13- Cases in Neurogenetics
Case 1 you are asked to evaluate ...,
Case 1 contd how will you think t...,
Case 1 contd what tests would you...
13
cards
11/16- Genetic Disorders You Don't Want to Miss 1
Case 1 dr is a 28 yo caucasian ma...,
What does this pedigree show pic 746,
What do these pictures show pic 747
44
cards
11/17- Genetic Disorders You Don’t Want To Miss Part II: The Pediatric Patient
Case 1 2 month old male presents ...,
Key physical exam findings of ost...,
Which oi type is the classic
37
cards
11/18- Making Sense of Genetic Testing
Different types of lab tests what...,
What genetic test is done for kno...,
What is seen here pic 815
48
cards
11/18- Interpretation of Genetic Testing (small groups)
Case 1 your pt mr richards is a 5...,
How would you manage mr richards ...,
Which other family members should...
9
cards
11/19- Disorders of Connective Tissue- Skeletal
Describe collagen biochemically h...,
What are the different types of c...,
Type i procollagen is made of wha...
39
cards
11/19- Disorders of Connective Tissue - Cardiac
Case 1 a 30y o caucasian male is ...,
Case 1 what is your ddx for the f...,
What is aortopathy
55
cards
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a_Genetics
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