Volume 6; Issue 1

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Genetics in Medicine
Volume 6; Issue 1

Genetics in Medicine

Volume 6; Issue 1

1

An epidemiologic assessment of genomic profiling for measuring susceptibility to common diseases and targeting interventions

Khoury, Muin J, Yang, Quanhe, Gwinn, Marta, Little, Julian, Flanders, W Dana

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 307 KB

english, 2004

2

Mutations in genes required for T-cell development:IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review

Kalman, Lisa, Lindegren, Mary Lou, Kobrynski, Lisa, Vogt, Robert, Hannon, Harry, Howard, Joelyn Tonkin, Buckley, Rebecca

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 808 KB

english, 2004

3

Technical Standards and Guidelines for Huntington Disease Testing

Potter, Nicholas T, Spector, Elaine B, Prior, Thomas W

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 326 KB

english, 2004

4

Biopterin responsive phenylalanine hydroxylase deficiency

Matalon, Reuben, Koch, Richard, Michals-Matalon, Kimberlee, Moseley, Kathryn, Surendran, Sankar, Tyring, Stephen, Erlandsen, Heidi, Gamez, Alejandra, Stevens, Raymond C, Romstad, Anne, Møller, Lisbeth

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 438 KB

english, 2004

5

Attention deficit/hyperactivity disorder (ADHD): Complex phenotype, simple genotype?

Acosta, Maria Teresa, Arcos-Burgos, Mauricio, Muenke, Maximilian

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 602 KB

english, 2004

6

No evidence for heterozygote advantage at MTHFR in patients with lumbosacral myelomeningocele or their relatives

Rampersaud, E, Brusato, C, Melvin, E C, Speer, M C, Metcalf, K

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 85 KB

english, 2004

7

A set of commercially available fluorescent in-situ hybridization probes efficiently detects cytogenetic abnormalities in patients with chronic lymphocytic leukemia

Goorha, Salil, Glenn, Martha J, Drozd-Borysiuk, Elizabeth, Chen, Zhong

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 196 KB

english, 2004

8

Revised Sections F7.5 (Quantitative Amino Acid Analysis) and F7.6 (Qualitative Amino Acid Analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003

Grier, Robert E, Gahl, William A, Cowan, Tina, Bernardini, Isa, McDowell, Geraldine A, Rinaldo, Piero

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 120 KB

english, 2004

9

Genetic determinants of osteoporosis susceptibility in a female Ashkenazi Jewish population

Li, Xiaohui, Chen, Sako, Kantorovich, Vitaly, Cheng, Li S C, Cohn, Dan H, Rotter, Jerome I, Yang, Huiying, Adams, John S

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 173 KB

english, 2004

10

Single umbilical artery: What does it mean for the fetus? A case-control analysis of pathologically ascertained cases

Prucka, Sandra, Clemens, Michele, Craven, Catherine, McPherson, Elizabeth

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 147 KB

english, 2004

11

Direct-to-consumer genetic testing: Access and marketing

McCabe, Linda L, McCabe, Edward R B

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 83 KB

english, 2004

12

ACMG Statement on Direct-to-Consumer Genetic Testing

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 46 KB

english, 2004

13

Announcements

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 326 KB

english, 2004

14

Meetings Calendar

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 40 KB

english, 2004

15

Announcements

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 46 KB

english, 2004