| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment
|
Powers, Natalie R.
|
|
2013
|
93 |
1 |
p. 19-28
10 p.
|
artikel
|
| 2 |
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
|
Boukhris, Amir
|
|
2013
|
93 |
1 |
p. 118-123
6 p.
|
artikel
|
| 3 |
Coding Variants at Hexa-allelic Amino Acid 13 of HLA-DRB1 Explain Independent SNP Associations with Follicular Lymphoma Risk
|
Foo, Jia Nee
|
|
2013
|
93 |
1 |
p. 167-172
6 p.
|
artikel
|
| 4 |
De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability
|
Gregor, Anne
|
|
2013
|
93 |
1 |
p. 124-131
8 p.
|
artikel
|
| 5 |
Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Association” Principle
|
Guo, Yu
|
|
2013
|
93 |
1 |
p. 78-89
12 p.
|
artikel
|
| 6 |
Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy
|
Arndt, Anne-Karin
|
|
2013
|
93 |
1 |
p. 67-77
11 p.
|
artikel
|
| 7 |
Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
|
Aoki, Yoko
|
|
2013
|
93 |
1 |
p. 173-180
8 p.
|
artikel
|
| 8 |
General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies
|
Lee, Seunggeun
|
|
2013
|
93 |
1 |
p. 42-53
12 p.
|
artikel
|
| 9 |
Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations
|
Ko, Wen-Ya
|
|
2013
|
93 |
1 |
p. 54-66
13 p.
|
artikel
|
| 10 |
Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations
|
Ko, Wen-Ya
|
|
2013
|
93 |
1 |
p. 191-
1 p.
|
artikel
|
| 11 |
Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism
|
Gamsiz, Ece D.
|
|
2013
|
93 |
1 |
p. 103-109
7 p.
|
artikel
|
| 12 |
Long Runs of Homozygosity Are Enriched for Deleterious Variation
|
Szpiech, Zachary A.
|
|
2013
|
93 |
1 |
p. 90-102
13 p.
|
artikel
|
| 13 |
Mobile DNA: Finding Treasure in Junk
|
Batzer, Mark A.
|
|
2013
|
93 |
1 |
p. 5-
1 p.
|
artikel
|
| 14 |
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
|
Carss, Keren J.
|
|
2013
|
93 |
1 |
p. 29-41
13 p.
|
artikel
|
| 15 |
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
|
Santos-Cortez, Regie Lyn P.
|
|
2013
|
93 |
1 |
p. 132-140
9 p.
|
artikel
|
| 16 |
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
|
Ravenscroft, Gianina
|
|
2013
|
93 |
1 |
p. 6-18
13 p.
|
artikel
|
| 17 |
Mutations in PIK3R1 Cause SHORT Syndrome
|
Dyment, David A.
|
|
2013
|
93 |
1 |
p. 158-166
9 p.
|
artikel
|
| 18 |
Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
|
Roosing, Susanne
|
|
2013
|
93 |
1 |
p. 110-117
8 p.
|
artikel
|
| 19 |
PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
|
Thauvin-Robinet, Christel
|
|
2013
|
93 |
1 |
p. 141-149
9 p.
|
artikel
|
| 20 |
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
|
Bögershausen, Nina
|
|
2013
|
93 |
1 |
p. 181-190
10 p.
|
artikel
|
| 21 |
SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling
|
Chudasama, Kishan Kumar
|
|
2013
|
93 |
1 |
p. 150-157
8 p.
|
artikel
|
| 22 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
93 |
1 |
p. 3-4
2 p.
|
artikel
|
| 23 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
93 |
1 |
p. 1-2
2 p.
|
artikel
|
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