| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome
|
Wong, Kendy K.
|
|
2007
|
80 |
1 |
p. 91-104
14 p.
|
artikel
|
| 2 |
A Mitochondrial Stratigraphy for Island Southeast Asia
|
Hill, Catherine
|
|
2007
|
80 |
1 |
p. 29-43
15 p.
|
artikel
|
| 3 |
An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation
|
Upadhyaya, M.
|
|
2007
|
80 |
1 |
p. 140-151
12 p.
|
artikel
|
| 4 |
An Evaluation of Power and Type I Error of Single-Nucleotide Polymorphism Transmission/Disequilibrium–Based Statistical Methods under Different Family Structures, Missing Parental Data, and Population Stratification
|
Nicodemus, Kristin K.
|
|
2007
|
80 |
1 |
p. 178-185
8 p.
|
artikel
|
| 5 |
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.
|
|
|
2007
|
80 |
1 |
p. 201-203
3 p.
|
artikel
|
| 6 |
ASHG Receives $1.1 Million NSF Grant
|
Shaw, Kenna R. Mills
|
|
2007
|
80 |
1 |
p. 200-
1 p.
|
artikel
|
| 7 |
Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations
|
Liquori, Christina L.
|
|
2007
|
80 |
1 |
p. 69-75
7 p.
|
artikel
|
| 8 |
Functional Variants in the Promoter Region of Chitinase 3–Like 1 (CHI3L1) and Susceptibility to Schizophrenia
|
Zhao, Xinzhi
|
|
2007
|
80 |
1 |
p. 12-18
7 p.
|
artikel
|
| 9 |
Genome Scanning by Composite Likelihood
|
Morton, Newton
|
|
2007
|
80 |
1 |
p. 19-28
10 p.
|
artikel
|
| 10 |
Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1
|
Naveed, Mohammed
|
|
2007
|
80 |
1 |
p. 105-111
7 p.
|
artikel
|
| 11 |
Genotype × Adiposity Interaction Linkage Analyses Reveal a Locus on Chromosome 1 for Lipoprotein-Associated Phospholipase A2, a Marker of Inflammation and Oxidative Stress
|
Diego, Vincent P.
|
|
2007
|
80 |
1 |
p. 168-177
10 p.
|
artikel
|
| 12 |
Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome
|
Stoetzel, Corinne
|
|
2007
|
80 |
1 |
p. 1-11
11 p.
|
artikel
|
| 13 |
Identification of the Genetic Basis for Complex Disorders by Use of Pooling-Based Genomewide Single-Nucleotide–Polymorphism Association Studies
|
Pearson, John V.
|
|
2007
|
80 |
1 |
p. 126-139
14 p.
|
artikel
|
| 14 |
Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu
|
Valente, Lucia
|
|
2007
|
80 |
1 |
p. 44-58
15 p.
|
artikel
|
| 15 |
Multipoint Linkage-Disequilibrium Mapping with Haplotype-Block Structure
|
Zheng, Maoxia
|
|
2007
|
80 |
1 |
p. 112-125
14 p.
|
artikel
|
| 16 |
Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration
|
Loupatty, Ference J.
|
|
2007
|
80 |
1 |
p. 195-199
5 p.
|
artikel
|
| 17 |
Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia
|
Valdmanis, Paul N.
|
|
2007
|
80 |
1 |
p. 152-161
10 p.
|
artikel
|
| 18 |
Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2
|
Agrawal, Pankaj B.
|
|
2007
|
80 |
1 |
p. 162-167
6 p.
|
artikel
|
| 19 |
Orofacial Cleft Risk Is Increased with Maternal Smoking and Specific Detoxification-Gene Variants
|
Shi, Min
|
|
2007
|
80 |
1 |
p. 76-90
15 p.
|
artikel
|
| 20 |
The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome
|
Baala, Lekbir
|
|
2007
|
80 |
1 |
p. 186-194
9 p.
|
artikel
|
| 21 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2007
|
80 |
1 |
p. i-ii
nvt p.
|
artikel
|
| 22 |
X-APL: An Improved Family-Based Test of Association in the Presence of Linkage for the X Chromosome
|
Chung, Ren-Hua
|
|
2007
|
80 |
1 |
p. 59-68
10 p.
|
artikel
|
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