Volume 12; Issue 7

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Genetics in Medicine
Volume 12; Issue 7

Genetics in Medicine

Volume 12; Issue 7

1

Clinical and genetic aspects of Angelman syndrome

Williams, Charles A, Driscoll, Daniel J, Dagli, Aditi I

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 592 KB

english, 2010

2

Glycogen Storage Disease Type III diagnosis and management guidelines

Kishnani, Priya S, Austin, Stephanie L, Arn, Pamela, Bali, Deeksha S, Boney, Anne, Case, Laura E, Chung, Wendy K, Desai, Dev M, El-Gharbawy, Areeg, Haller, Ronald, Smit, G Peter A, Smith, Alastair D,

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 651 KB

english, 2010

3

The electrodiagnostic characteristics of Glycogen Storage Disease Type III

Hobson-Webb, Lisa D, Austin, Stephanie L, Bali, Deeksha S, Kishnani, Priya S

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 188 KB

english, 2010

4

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

Goldstein, Jennifer L, Austin, Stephanie L, Boyette, Keri, Kanaly, Angela, Veerapandiyan, Aravind, Rehder, Catherine, Kishnani, Priya S, Bali, Deeksha S

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 508 KB

english, 2010

5

Technical standards and guidelines for the diagnosis of biotinidase deficiency

Cowan, Tina M, Blitzer, Miriam G, Wolf, Barry

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 220 KB

english, 2010

6

Echocardiographic manifestations of Glycogen Storage Disease III: Increase in wall thickness and left ventricular mass over time

Vertilus, Shawyntee M, Austin, Stephanie L, Foster, Kimberly S, Boyette, Keri E, Bali, Deeksha S, Li, Jennifer S, Kishnani, Priya S, Wechsler, Stephanie Burns

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.11 MB

english, 2010

7

A systematic review of population screening for fragile X syndrome

Hill, Melissa K, Archibald, Alison D, Cohen, Jonathan, Metcalfe, Sylvia A

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 418 KB

english, 2010

8

Commentary on population screening for fragile X syndrome

Coffee, Bradford

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 75 KB

english, 2010

9

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Marini, Monica, Bocciardi, Renata, Gimelli, Stefania, Di Duca, Marco, Divizia, Maria T, Baban, Anwar, Gaspar, Harald, Mammi, Isabella, Garavelli, Livia, Cerone, Roberto, Emma, Francesco, Bedeschi, Mar

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.13 MB

english, 2010

10

Response to Dr. Palombi

Gold, E Richard, Carbone, Julia

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 83 KB

english, 2010

11

Comment on “Myriad Genetics: In the eye of the policy storm”

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 57 KB

english, 2010

12

College News

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 573 KB

english, 2010

13

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening: Erratum

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 41 KB

english, 2010

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