| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
|
Tesson, Christelle
|
|
2012
|
91 |
6 |
p. 1051-1064
14 p.
|
artikel
|
| 2 |
An Exponential Combination Procedure for Set-Based Association Tests in Sequencing Studies
|
Chen, Lin S.
|
|
2012
|
91 |
6 |
p. 977-986
10 p.
|
artikel
|
| 3 |
A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree
|
Xu, Wang-yang
|
|
2012
|
91 |
6 |
p. 1088-1094
7 p.
|
artikel
|
| 4 |
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
|
Sanna-Cherchi, Simone
|
|
2012
|
91 |
6 |
p. 987-997
11 p.
|
artikel
|
| 5 |
Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
|
Rinaldi, Carlo
|
|
2012
|
91 |
6 |
p. 1095-1102
8 p.
|
artikel
|
| 6 |
Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy
|
Barwick, Katy E.S.
|
|
2012
|
91 |
6 |
p. 1103-1107
5 p.
|
artikel
|
| 7 |
Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
|
Basel-Vanagaite, Lina
|
|
2012
|
91 |
6 |
p. 998-1010
13 p.
|
artikel
|
| 8 |
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
|
Xue, Yali
|
|
2012
|
91 |
6 |
p. 1022-1032
11 p.
|
artikel
|
| 9 |
DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria
|
Danhauser, Katharina
|
|
2012
|
91 |
6 |
p. 1082-1087
6 p.
|
artikel
|
| 10 |
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation
|
Koren, Amnon
|
|
2012
|
91 |
6 |
p. 1033-1040
8 p.
|
artikel
|
| 11 |
Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities
|
Talkowski, Michael E.
|
|
2012
|
91 |
6 |
p. 1128-1134
7 p.
|
artikel
|
| 12 |
Evaluation of the Therapeutic Potential of a CNP Analog in a Fgfr3 Mouse Model Recapitulating Achondroplasia
|
Lorget, Florence
|
|
2012
|
91 |
6 |
p. 1108-1114
7 p.
|
artikel
|
| 13 |
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
|
Haack, Tobias B.
|
|
2012
|
91 |
6 |
p. 1144-1149
6 p.
|
artikel
|
| 14 |
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility
|
McGrath, John A.
|
|
2012
|
91 |
6 |
p. 1115-1121
7 p.
|
artikel
|
| 15 |
Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly
|
Vuillaumier-Barrot, Sandrine
|
|
2012
|
91 |
6 |
p. 1135-1143
9 p.
|
artikel
|
| 16 |
Improved Heritability Estimation from Genome-wide SNPs
|
Speed, Doug
|
|
2012
|
91 |
6 |
p. 1011-1021
11 p.
|
artikel
|
| 17 |
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History
|
Palamara, Pier Francesco
|
|
2012
|
91 |
6 |
p. 1150-
1 p.
|
artikel
|
| 18 |
Margery Wayne Shaw, MD, JD (1923–2012): A Remembrance
|
Reilly, Philip R.
|
|
2012
|
91 |
6 |
p. 1150-
1 p.
|
artikel
|
| 19 |
Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis
|
Oz-Levi, Danit
|
|
2012
|
91 |
6 |
p. 1065-1072
8 p.
|
artikel
|
| 20 |
Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis
|
Charlesworth, Gavin
|
|
2012
|
91 |
6 |
p. 1041-1050
10 p.
|
artikel
|
| 21 |
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
|
Schuurs-Hoeijmakers, Janneke H.M.
|
|
2012
|
91 |
6 |
p. 1073-1081
9 p.
|
artikel
|
| 22 |
Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
|
Schuurs-Hoeijmakers, Janneke H.M.
|
|
2012
|
91 |
6 |
p. 1122-1127
6 p.
|
artikel
|
| 23 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2012
|
91 |
6 |
p. 975-976
2 p.
|
artikel
|
| 24 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2012
|
91 |
6 |
p. 973-974
2 p.
|
artikel
|
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