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 |