| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes
|
Shlien, Adam
|
|
2010
|
87 |
5 |
p. 631-642
12 p.
|
artikel
|
| 2 |
A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia
|
Arnaud, Lionel
|
|
2010
|
87 |
5 |
p. 721-727
7 p.
|
artikel
|
| 3 |
A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases
|
Glessner, Joseph T.
|
|
2010
|
87 |
5 |
p. 661-666
6 p.
|
artikel
|
| 4 |
Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia
|
Crosby, Andrew H.
|
|
2010
|
87 |
5 |
p. 655-660
6 p.
|
artikel
|
| 5 |
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
|
Moreno-De-Luca, Daniel
|
|
2010
|
87 |
5 |
p. 618-630
13 p.
|
artikel
|
| 6 |
De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment
|
Hamdan, Fadi F.
|
|
2010
|
87 |
5 |
p. 671-678
8 p.
|
artikel
|
| 7 |
Extending Rare-Variant Testing Strategies: Analysis of Noncoding Sequence and Imputed Genotypes
|
Zawistowski, Matthew
|
|
2010
|
87 |
5 |
p. 604-617
14 p.
|
artikel
|
| 8 |
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
|
Tompson, Stuart W.
|
|
2010
|
87 |
5 |
p. 708-712
5 p.
|
artikel
|
| 9 |
Human Male Infertility Associated with Mutations in NR5A1Encoding Steroidogenic Factor 1
|
Bashamboo, Anu
|
|
2010
|
87 |
5 |
p. 736-
1 p.
|
artikel
|
| 10 |
Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII
|
Feldshtein, Maya
|
|
2010
|
87 |
5 |
p. 713-720
8 p.
|
artikel
|
| 11 |
Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex
|
Kaufmann, Rami
|
|
2010
|
87 |
5 |
p. 667-670
4 p.
|
artikel
|
| 12 |
MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes
|
Sirmaci, Asli
|
|
2010
|
87 |
5 |
p. 679-686
8 p.
|
artikel
|
| 13 |
Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa
|
Rajadhyaksha, Anjali M.
|
|
2010
|
87 |
5 |
p. 643-654
12 p.
|
artikel
|
| 14 |
Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections
|
Wang, Li
|
|
2010
|
87 |
5 |
p. 701-707
7 p.
|
artikel
|
| 15 |
Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy
|
Wang, Hu
|
|
2010
|
87 |
5 |
p. 687-693
7 p.
|
artikel
|
| 16 |
Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23
|
Bakalkin, Georgy
|
|
2010
|
87 |
5 |
p. 593-603
11 p.
|
artikel
|
| 17 |
Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23
|
Bakalkin, Georgy
|
|
2010
|
87 |
5 |
p. 736-
1 p.
|
artikel
|
| 18 |
Recollections from 60 ASHG Meetings
|
Keats, Bronya J.B.
|
|
2010
|
87 |
5 |
p. 580-592
13 p.
|
artikel
|
| 19 |
SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System
|
Birk, Efrat
|
|
2010
|
87 |
5 |
p. 694-700
7 p.
|
artikel
|
| 20 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2010
|
87 |
5 |
p. 577-579
3 p.
|
artikel
|
| 21 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2010
|
87 |
5 |
p. 575-576
2 p.
|
artikel
|
| 22 |
To Identify Associations with Rare Variants, Just WHaIT: Weighted Haplotype and Imputation-Based Tests
|
Li, Yun
|
|
2010
|
87 |
5 |
p. 728-735
8 p.
|
artikel
|
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