| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy
|
Kranz, Christian
|
|
2007
|
80 |
3 |
p. 433-440
8 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.
|
|
|
2007
|
80 |
3 |
p. 583-584
2 p.
|
artikel
|
| 3 |
Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase
|
Basel-Vanagaite, Lina
|
|
2007
|
80 |
3 |
p. 467-477
11 p.
|
artikel
|
| 4 |
Efficient Association Mapping of Quantitative Trait Loci with Selective Genotyping
|
Huang, B.E.
|
|
2007
|
80 |
3 |
p. 567-576
10 p.
|
artikel
|
| 5 |
Erratum
|
|
|
2007
|
80 |
3 |
p. 580-
1 p.
|
artikel
|
| 6 |
Evidence of Positive Selection on a Class I ADH Locus
|
Han, Yi
|
|
2007
|
80 |
3 |
p. 441-456
16 p.
|
artikel
|
| 7 |
First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure
|
Jaspers, Nicolaas G.J.
|
|
2007
|
80 |
3 |
p. 457-466
10 p.
|
artikel
|
| 8 |
Gene-Expression Variation Within and Among Human Populations
|
Storey, John D.
|
|
2007
|
80 |
3 |
p. 502-509
8 p.
|
artikel
|
| 9 |
Genomewide Association Studies Data Sharing: National Institutes of Health Policy Process
|
Boughman, Joann A.
|
|
2007
|
80 |
3 |
p. 581-582
2 p.
|
artikel
|
| 10 |
Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions
|
Zweier, Christiane
|
|
2007
|
80 |
3 |
p. 510-517
8 p.
|
artikel
|
| 11 |
Localization of a Gene for Nonsyndromic Renal Hypodysplasia to Chromosome 1p32-33
|
Sanna-Cherchi, Simone
|
|
2007
|
80 |
3 |
p. 539-549
11 p.
|
artikel
|
| 12 |
Mitochondrial Haplogroup N9a Confers Resistance against Type 2 Diabetes in Asians
|
Fuku, Noriyuki
|
|
2007
|
80 |
3 |
p. 407-415
9 p.
|
artikel
|
| 13 |
Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation
|
Mayr, Johannes A.
|
|
2007
|
80 |
3 |
p. 478-484
7 p.
|
artikel
|
| 14 |
Mutation in CUL4B, Which Encodes a Member of Cullin-RING Ubiquitin Ligase Complex, Causes X-Linked Mental Retardation
|
Zou, Yongxin
|
|
2007
|
80 |
3 |
p. 561-566
6 p.
|
artikel
|
| 15 |
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation
|
Deardorff, Matthew A.
|
|
2007
|
80 |
3 |
p. 485-494
10 p.
|
artikel
|
| 16 |
Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation
|
Pasutto, Francesca
|
|
2007
|
80 |
3 |
p. 550-560
11 p.
|
artikel
|
| 17 |
No Gene Is an Island: The Flip-Flop Phenomenon
|
Lin, Ping-I
|
|
2007
|
80 |
3 |
p. 531-538
8 p.
|
artikel
|
| 18 |
Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike
|
Yan, Jiong
|
|
2007
|
80 |
3 |
p. 518-525
8 p.
|
artikel
|
| 19 |
Polymorphic Variation in Human Meiotic Recombination
|
Cheung, Vivian G.
|
|
2007
|
80 |
3 |
p. 526-530
5 p.
|
artikel
|
| 20 |
Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism
|
Makino, Satoshi
|
|
2007
|
80 |
3 |
p. 393-406
14 p.
|
artikel
|
| 21 |
Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer
|
Nielsen, Karsten Bork
|
|
2007
|
80 |
3 |
p. 416-432
17 p.
|
artikel
|
| 22 |
The Evolution of Satellite III DNA Subfamilies among Primates
|
Jarmuż, Malgorzata
|
|
2007
|
80 |
3 |
p. 495-501
7 p.
|
artikel
|
| 23 |
The Use of Inferred Haplotypes in Downstream Analyses
|
Lin, D.Y.
|
|
2007
|
80 |
3 |
p. 577-579
3 p.
|
artikel
|
| 24 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2007
|
80 |
3 |
p. i-ii
nvt p.
|
artikel
|
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