| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency
|
Quinzii, Catarina
|
|
2006
|
78 |
2 |
p. 345-349
5 p.
|
artikel
|
| 2 |
Announcements 1 1. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to ajhg@ajhg.net. Submission must be received at least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.
|
|
|
2006
|
78 |
2 |
p. 363-364
2 p.
|
artikel
|
| 3 |
A Novel Framework for Sib Pair Linkage Analysis
|
Poznik, G. David
|
|
2006
|
78 |
2 |
p. 222-230
9 p.
|
artikel
|
| 4 |
A Y-Chromosome Signature of Hegemony in Gaelic Ireland
|
Moore, Laoise T.
|
|
2006
|
78 |
2 |
p. 334-338
5 p.
|
artikel
|
| 5 |
Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease
|
Tartaglia, Marco
|
|
2006
|
78 |
2 |
p. 279-290
12 p.
|
artikel
|
| 6 |
Erratum
|
|
|
2006
|
78 |
2 |
p. 360-
1 p.
|
artikel
|
| 7 |
Erratum
|
|
|
2006
|
78 |
2 |
p. 360-
1 p.
|
artikel
|
| 8 |
Genomewide Linkage Scan of 409 European-Ancestry and African American Families with Schizophrenia: Suggestive Evidence of Linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the Combined Sample
|
Suarez, Brian K.
|
|
2006
|
78 |
2 |
p. 315-333
19 p.
|
artikel
|
| 9 |
Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
|
Lorenz-Depiereux, Bettina
|
|
2006
|
78 |
2 |
p. 193-201
9 p.
|
artikel
|
| 10 |
Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency
|
Kuokkanen, Mikko
|
|
2006
|
78 |
2 |
p. 339-344
6 p.
|
artikel
|
| 11 |
Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists
|
Sengupta, Sanghamitra
|
|
2006
|
78 |
2 |
p. 202-221
20 p.
|
artikel
|
| 12 |
Regression-Based Association Analysis with Clustered Haplotypes through Use of Genotypes
|
Tzeng, Jung-Ying
|
|
2006
|
78 |
2 |
p. 231-242
12 p.
|
artikel
|
| 13 |
Robust Genomic Control for Association Studies
|
Zheng, Gang
|
|
2006
|
78 |
2 |
p. 350-356
7 p.
|
artikel
|
| 14 |
Single-Nucleotide Polymorphisms in NAGNAG Acceptors Are Highly Predictive for Variations of Alternative Splicing
|
Hiller, Michael
|
|
2006
|
78 |
2 |
p. 291-302
12 p.
|
artikel
|
| 15 |
SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis
|
Bergwitz, Clemens
|
|
2006
|
78 |
2 |
p. 179-192
14 p.
|
artikel
|
| 16 |
Society News
|
Haga, Susanne B.
|
|
2006
|
78 |
2 |
p. 361-362
2 p.
|
artikel
|
| 17 |
Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation
|
Lalani, Seema R.
|
|
2006
|
78 |
2 |
p. 303-314
12 p.
|
artikel
|
| 18 |
The SERPINE2 Gene Is Associated with Chronic Obstructive Pulmonary Disease
|
DeMeo, Dawn L.
|
|
2006
|
78 |
2 |
p. 253-264
12 p.
|
artikel
|
| 19 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2006
|
78 |
2 |
p. i-ii
nvt p.
|
artikel
|
| 20 |
USH1A: Chronicle of a Slow Death
|
Gerber, Sylvie
|
|
2006
|
78 |
2 |
p. 357-359
3 p.
|
artikel
|
| 21 |
Using Linkage Genome Scans to Improve Power of Association in Genome Scans
|
Roeder, Kathryn
|
|
2006
|
78 |
2 |
p. 243-252
10 p.
|
artikel
|
| 22 |
ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation
|
Lugtenberg, Dorien
|
|
2006
|
78 |
2 |
p. 265-278
14 p.
|
artikel
|
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