| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
2011 ASHG Awards and Addresses
|
|
|
2012
|
90 |
3 |
p. 385-386
2 p.
|
artikel
|
| 2 |
Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
|
Merrill, Amy E.
|
|
2012
|
90 |
3 |
p. 550-557
8 p.
|
artikel
|
| 3 |
Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region
|
Lee, Jong-Min
|
|
2012
|
90 |
3 |
p. 434-444
11 p.
|
artikel
|
| 4 |
2011 Curt Stern Award Address 1
|
Altshuler, David
|
|
2012
|
90 |
3 |
p. 407-409
3 p.
|
artikel
|
| 5 |
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
|
Veeramah, Krishna R.
|
|
2012
|
90 |
3 |
p. 502-510
9 p.
|
artikel
|
| 6 |
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
|
Lin, Zhimiao
|
|
2012
|
90 |
3 |
p. 558-564
7 p.
|
artikel
|
| 7 |
Genetically Determined Partial Complement C4 Deficiency States Are Not Independent Risk Factors for SLE in UK and Spanish Populations
|
Boteva, Lora
|
|
2012
|
90 |
3 |
p. 445-456
12 p.
|
artikel
|
| 8 |
Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position
|
Paternoster, Lavinia
|
|
2012
|
90 |
3 |
p. 478-485
8 p.
|
artikel
|
| 9 |
Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
|
Tanaka, Akio
|
|
2012
|
90 |
3 |
p. 511-517
7 p.
|
artikel
|
| 10 |
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
|
Hoyer, Juliane
|
|
2012
|
90 |
3 |
p. 565-572
8 p.
|
artikel
|
| 11 |
Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2
|
Spiegel, Ronen
|
|
2012
|
90 |
3 |
p. 518-523
6 p.
|
artikel
|
| 12 |
2011 Introduction to Curt Stern Award 1
|
Chakravarti, Aravinda
|
|
2012
|
90 |
3 |
p. 405-406
2 p.
|
artikel
|
| 13 |
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
|
Saxena, Richa
|
|
2012
|
90 |
3 |
p. 410-425
16 p.
|
artikel
|
| 14 |
Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians
|
Dulik, Matthew C.
|
|
2012
|
90 |
3 |
p. 573-
1 p.
|
artikel
|
| 15 |
Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
|
Zankl, Andreas
|
|
2012
|
90 |
3 |
p. 494-501
8 p.
|
artikel
|
| 16 |
Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts
|
Polvi, Anne
|
|
2012
|
90 |
3 |
p. 540-549
10 p.
|
artikel
|
| 17 |
Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy
|
Riazuddin, S. Amer
|
|
2012
|
90 |
3 |
p. 533-539
7 p.
|
artikel
|
| 18 |
Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease
|
Quadri, Marialuisa
|
|
2012
|
90 |
3 |
p. 467-477
11 p.
|
artikel
|
| 19 |
2011 Presidential Address: From Classroom to Courtroom to Clinic—Closing the Gaps in Human Genetics Education 1
|
Jorde, Lynn B.
|
|
2012
|
90 |
3 |
p. 387-389
3 p.
|
artikel
|
| 20 |
Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
|
Jongmans, Marjolijn C.J.
|
|
2012
|
90 |
3 |
p. 426-433
8 p.
|
artikel
|
| 21 |
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man
|
Tuschl, Karin
|
|
2012
|
90 |
3 |
p. 457-466
10 p.
|
artikel
|
| 22 |
The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times
|
Behar, Doron M.
|
|
2012
|
90 |
3 |
p. 486-493
8 p.
|
artikel
|
| 23 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2012
|
90 |
3 |
p. 383-384
2 p.
|
artikel
|
| 24 |
This Month in The Journal
|
Cullinan, Sara B.
|
|
2012
|
90 |
3 |
p. 381-382
2 p.
|
artikel
|
| 25 |
Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12
|
Kurreeman, Fina A.S.
|
|
2012
|
90 |
3 |
p. 524-532
9 p.
|
artikel
|
| 26 |
2011 William Allan Award: Development and Evolution 1
|
Opitz, John M.
|
|
2012
|
90 |
3 |
p. 392-404
13 p.
|
artikel
|
| 27 |
2011 William Allan Award Introduction: John M. Opitz 1
|
Muenke, Maximilian
|
|
2012
|
90 |
3 |
p. 390-391
2 p.
|
artikel
|
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