Volume 14; Issue 5

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Genetics in Medicine
Volume 14; Issue 5

Genetics in Medicine

Volume 14; Issue 5

1

Barriers to integrating personalized medicine into clinical practice: a best–worst scaling choice experiment

Najafzadeh, Mehdi, Lynd, Larry D., Davis, Jennifer C., Bryan, Stirling, Anis, Aslam, Marra, Marco, Marra, Carlo A.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 322 KB

english, 2012

2

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype

Moles, Kimberly J., Gowans, Gordon C., Gedela, Satyanarayana, Beversdorf, David, Yu, Arthur, Seaver, Laurie H., Schultz, Roger A., Rosenfeld, Jill A., Torchia, Beth S., Shaffer, Lisa G.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 536 KB

english, 2012

3

BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis

Julian-Reynier, Claire, Fabre, Roxane, Coupier, Isabelle, Stoppa-Lyonnet, Dominique, Lasset, Christine, Caron, Olivier, Mouret-Fourme, Emmanuelle, Berthet, Pascaline, Faivre, Laurence, Frenay, Marc, G

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 306 KB

english, 2012

4

Argininosuccinate lyase deficiency

Nagamani, Sandesh C.S., Erez, Ayelet, Lee, Brendan

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 612 KB

english, 2012

5

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

Khalak, Hanif G., Wakil, Salma M., Imtiaz, Faiqa, Ramzan, Khushnooda, Baz, Batoul, Almostafa, Abeer, Hagos, Samya, Alzahrani, Fatema, Abu-Dhaim, Nada, Abu Safieh, Leen, Al-Jbali, Latifa, Al-Hamed, Moh

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 501 KB

english, 2012

6

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

Cabral, Wayne A., Barnes, Aileen M., Adeyemo, Adebowale, Cushing, Kelly, Chitayat, David, Porter, Forbes D., Panny, Susan R., Gulamali-Majid, Fizza, Tishkoff, Sarah A., Rebbeck, Timothy R., Gueye, Ser

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 338 KB

english, 2012

7

The development and implementation of an in-service exam for medical genetics residency programs

Robin, Nathaniel H., Reid Sutton, V., Caldwell, John, Jackson, James, Irons, Mira, Demmer, Laurie

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 242 KB

english, 2012

8

Considering factors affecting the parental decision to abort after a prenatal diagnosis of a sex chromosome abnormality

Pieters, Jacqueline J.P.M., Kooper, Angelique J.A., Feuth, Ton B., Smits, Arie P.T.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 194 KB

english, 2012

9

A pre-visit website with question prompt sheet for counselees facilitates communication in the first consultation for breast cancer genetic counseling: findings from a randomized controlled trial

Albada, Akke, van Dulmen, Sandra, Ausems, Margreet G.E.M., Bensing, Jozien M.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 264 KB

english, 2012

10

Response to Pieters et al.

Jeon, Kwon Chan, Chen, Lei-Shih, Goodson, Patricia

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 216 KB

english, 2012

11

In This Issue

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 347 KB

english, 2012

12

News Briefs

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 347 KB

english, 2012

13

ACMG college news

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 521 KB

english, 2012

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