| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ALAD Porphyria Is a Conformational Disease
|
Jaffe, Eileen K.
|
|
2007
|
80 |
2 |
p. 329-337
9 p.
|
artikel
|
| 2 |
A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes
|
Cargill, Michele
|
|
2007
|
80 |
2 |
p. 273-290
18 p.
|
artikel
|
| 3 |
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 |
2 |
p. 390-391
2 p.
|
artikel
|
| 4 |
Associating Mitochondrial DNA Variation with Complex Traits
|
Elson, Joanna L.
|
|
2007
|
80 |
2 |
p. 378-382
5 p.
|
artikel
|
| 5 |
A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation
|
Duffy, David L.
|
|
2007
|
80 |
2 |
p. 241-252
12 p.
|
artikel
|
| 6 |
CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1
|
Winnepenninckx, Birgitta
|
|
2007
|
80 |
2 |
p. 221-231
11 p.
|
artikel
|
| 7 |
Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
|
Klopocki, Eva
|
|
2007
|
80 |
2 |
p. 232-240
9 p.
|
artikel
|
| 8 |
Conflict of Interest: The “Interest” of ASHG
|
Boughman, Joann A.
|
|
2007
|
80 |
2 |
p. 389-
1 p.
|
artikel
|
| 9 |
Erratum
|
|
|
2007
|
80 |
2 |
p. 388-
1 p.
|
artikel
|
| 10 |
GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies
|
Asai-Coakwell, Mika
|
|
2007
|
80 |
2 |
p. 306-315
10 p.
|
artikel
|
| 11 |
Genetic Association Analysis of RHOB and TXNDC3 in Osteoarthritis
|
Loughlin, John
|
|
2007
|
80 |
2 |
p. 383-386
4 p.
|
artikel
|
| 12 |
Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families
|
|
|
2007
|
80 |
2 |
p. 265-272
8 p.
|
artikel
|
| 13 |
Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata
|
Martinez-Mir, Amalia
|
|
2007
|
80 |
2 |
p. 316-328
13 p.
|
artikel
|
| 14 |
Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia
|
Tekin, Mustafa
|
|
2007
|
80 |
2 |
p. 338-344
7 p.
|
artikel
|
| 15 |
Improved Power by Use of a Weighted Score Test for Linkage Disequilibrium Mapping
|
Wang, Tao
|
|
2007
|
80 |
2 |
p. 353-360
8 p.
|
artikel
|
| 16 |
Inheritance of Mitochondrial DNA Recombinants in Double-Heteroplasmic Families: Potential Implications for Phylogenetic Analysis
|
Zsurka, Gábor
|
|
2007
|
80 |
2 |
p. 298-305
8 p.
|
artikel
|
| 17 |
Long-Term Rescue of a Lethal Inherited Disease by Adeno-Associated Virus–Mediated Gene Transfer in a Mouse Model of Molybdenum-Cofactor Deficiency
|
Kügler, S.
|
|
2007
|
80 |
2 |
p. 291-297
7 p.
|
artikel
|
| 18 |
Multiple Genes for Essential-Hypertension Susceptibility on Chromosome 1q
|
Chang, Yen-Pei Christy
|
|
2007
|
80 |
2 |
p. 253-264
12 p.
|
artikel
|
| 19 |
Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor
|
Tarpey, Patrick S.
|
|
2007
|
80 |
2 |
p. 345-352
8 p.
|
artikel
|
| 20 |
Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome
|
Zhao, Xiuli
|
|
2007
|
80 |
2 |
p. 361-371
11 p.
|
artikel
|
| 21 |
Reply to Elson et al.
|
Saxena, Richa
|
|
2007
|
80 |
2 |
p. 382-383
2 p.
|
artikel
|
| 22 |
Reply to Loughlin et al.
|
Mahr, Sandra
|
|
2007
|
80 |
2 |
p. 386-387
2 p.
|
artikel
|
| 23 |
The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior
|
Lenski, Claus
|
|
2007
|
80 |
2 |
p. 372-377
6 p.
|
artikel
|
| 24 |
The Role of Neuronal Complexes in Human X-Linked Brain Diseases
|
Laumonnier, Frédéric
|
|
2007
|
80 |
2 |
p. 205-220
16 p.
|
artikel
|
| 25 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2007
|
80 |
2 |
p. i-ii
nvt p.
|
artikel
|
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