| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
|
Zimprich, Alexander
|
|
2011
|
89 |
1 |
p. 168-175
8 p.
|
artikel
|
| 2 |
Complement Receptor 1 Gene Variants Are Associated with Erythrocyte Sedimentation Rate
|
Kullo, Iftikhar J.
|
|
2011
|
89 |
1 |
p. 131-138
8 p.
|
artikel
|
| 3 |
Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting
|
Saadi, Irfan
|
|
2011
|
89 |
1 |
p. 44-55
12 p.
|
artikel
|
| 4 |
Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome
|
Dowdle, William E.
|
|
2011
|
89 |
1 |
p. 94-110
17 p.
|
artikel
|
| 5 |
Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome
|
Ozaltin, Fatih
|
|
2011
|
89 |
1 |
p. 139-147
9 p.
|
artikel
|
| 6 |
Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth
|
Hanson, Dan
|
|
2011
|
89 |
1 |
p. 148-153
6 p.
|
artikel
|
| 7 |
Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement
|
Kobayashi, Hatasu
|
|
2011
|
89 |
1 |
p. 121-130
10 p.
|
artikel
|
| 8 |
Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects
|
Baasanjav, Sevjidmaa
|
|
2011
|
89 |
1 |
p. 15-27
13 p.
|
artikel
|
| 9 |
Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64
|
Cheng, Jing
|
|
2011
|
89 |
1 |
p. 56-66
11 p.
|
artikel
|
| 10 |
Human Genetics: The Basics
|
Rodgers, Charles W.
|
|
2011
|
89 |
1 |
p. 5-6
2 p.
|
artikel
|
| 11 |
Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth
|
Nieminen, Pekka
|
|
2011
|
89 |
1 |
p. 67-81
15 p.
|
artikel
|
| 12 |
Indian Siddis: African Descendants with Indian Admixture
|
Shah, Anish M.
|
|
2011
|
89 |
1 |
p. 154-161
8 p.
|
artikel
|
| 13 |
Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability
|
Rafiq, Muhammad Arshad
|
|
2011
|
89 |
1 |
p. 176-182
7 p.
|
artikel
|
| 14 |
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
|
Le Goff, Carine
|
|
2011
|
89 |
1 |
p. 7-14
8 p.
|
artikel
|
| 15 |
Population Structure Can Inflate SNP-Based Heritability Estimates
|
Browning, Sharon R.
|
|
2011
|
89 |
1 |
p. 191-193
3 p.
|
artikel
|
| 16 |
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
|
Wu, Michael C.
|
|
2011
|
89 |
1 |
p. 82-93
12 p.
|
artikel
|
| 17 |
Recent Admixture in an Indian Population of African Ancestry
|
Narang, Ankita
|
|
2011
|
89 |
1 |
p. 111-120
10 p.
|
artikel
|
| 18 |
Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis
|
Sergouniotis, Panagiotis I.
|
|
2011
|
89 |
1 |
p. 183-190
8 p.
|
artikel
|
| 19 |
Response to Browning and Browning
|
Goddard, Michael E.
|
|
2011
|
89 |
1 |
p. 193-195
3 p.
|
artikel
|
| 20 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2011
|
89 |
1 |
p. 3-4
2 p.
|
artikel
|
| 21 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2011
|
89 |
1 |
p. 1-2
2 p.
|
artikel
|
| 22 |
Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
|
Rope, Alan F.
|
|
2011
|
89 |
1 |
p. 28-43
16 p.
|
artikel
|
| 23 |
VPS35 Mutations in Parkinson Disease
|
Vilariño-Güell, Carles
|
|
2011
|
89 |
1 |
p. 162-167
6 p.
|
artikel
|
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