nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
AIMP1/p43 Mutation and PMLD
|
Biancheri, Roberta |
|
2011 |
88 |
3 |
p. 391- 1 p. |
artikel |
2 |
A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation
|
Harbuz, Radu |
|
2011 |
88 |
3 |
p. 351-361 11 p. |
artikel |
3 |
2010 ASHG Awards and Addresses
|
|
|
2011 |
88 |
3 |
p. 253- 1 p. |
artikel |
4 |
Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease
|
Gal, Andreas |
|
2011 |
88 |
3 |
p. 382-390 9 p. |
artikel |
5 |
CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia
|
Stuiver, Marchel |
|
2011 |
88 |
3 |
p. 333-343 11 p. |
artikel |
6 |
DPY19L2 Deletion as a Major Cause of Globozoospermia
|
Koscinski, Isabelle |
|
2011 |
88 |
3 |
p. 344-350 7 p. |
artikel |
7 |
Estimating Missing Heritability for Disease from Genome-wide Association Studies
|
Lee, Sang Hong |
|
2011 |
88 |
3 |
p. 294-305 12 p. |
artikel |
8 |
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
|
Hamdan, Fadi F. |
|
2011 |
88 |
3 |
p. 306-316 11 p. |
artikel |
9 |
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
|
Becker, Jutta |
|
2011 |
88 |
3 |
p. 362-371 10 p. |
artikel |
10 |
GATES: A Rapid and Powerful Gene-Based Association Test Using Extended Simes Procedure
|
Li, Miao-Xin |
|
2011 |
88 |
3 |
p. 283-293 11 p. |
artikel |
11 |
Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder
|
Cichon, Sven |
|
2011 |
88 |
3 |
p. 372-381 10 p. |
artikel |
12 |
Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder
|
Cichon, Sven |
|
2011 |
88 |
3 |
p. 396- 1 p. |
artikel |
13 |
Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy
|
Norton, Nadine |
|
2011 |
88 |
3 |
p. 273-282 10 p. |
artikel |
14 |
Neurodegenerative Disorder Related to AIMP1/p43 Mutation Is Not a PMLD
|
Boespflug-Tanguy, Odile |
|
2011 |
88 |
3 |
p. 392-393 2 p. |
artikel |
15 |
Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms
|
Campbell, Catarina D. |
|
2011 |
88 |
3 |
p. 317-332 16 p. |
artikel |
16 |
2010 Presidential Address: Culture: The Silent Language Geneticists Must Learn— Genetic Research with Indigenous Populations
|
McInnes, Roderick R. |
|
2011 |
88 |
3 |
p. 254-261 8 p. |
artikel |
17 |
Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD
|
Feinstein, Miora |
|
2011 |
88 |
3 |
p. 393-395 3 p. |
artikel |
18 |
This Month in Genetics
|
Garber, Kathryn B. |
|
2011 |
88 |
3 |
p. 251-252 2 p. |
artikel |
19 |
This Month in The Journal
|
Bungartz, Kathryn D. |
|
2011 |
88 |
3 |
p. 249-250 2 p. |
artikel |
20 |
2010 Victor A. McKusick Leadership Award Introduction and Address
|
Motulsky, Arno |
|
2011 |
88 |
3 |
p. 269-272 4 p. |
artikel |
21 |
William Allan Award Address: On the Role and Soul of a Statistical Geneticist
|
Ott, Jürg |
|
2011 |
88 |
3 |
p. 264-268 5 p. |
artikel |
22 |
2010 William Allan Award Introduction: Jürg Ott
|
Elston, Robert C. |
|
2011 |
88 |
3 |
p. 262-263 2 p. |
artikel |