| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acute Infantile Liver Failure Due to Mutations in the TRMU Gene
|
Zeharia, Avraham
|
|
2009
|
85 |
3 |
p. 401-407
7 p.
|
artikel
|
| 2 |
A Generalized Family-Based Association Test for Dichotomous Traits
|
Chen, Wei-Min
|
|
2009
|
85 |
3 |
p. 364-376
13 p.
|
artikel
|
| 3 |
Allele-Specific Chromatin Remodeling in the ZPBP2/GSDMB/ORMDL3 Locus Associated with the Risk of Asthma and Autoimmune Disease
|
Verlaan, Dominique J.
|
|
2009
|
85 |
3 |
p. 377-393
17 p.
|
artikel
|
| 4 |
A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
|
Prior, Thomas W.
|
|
2009
|
85 |
3 |
p. 408-413
6 p.
|
artikel
|
| 5 |
Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females
|
Giorda, Roberto
|
|
2009
|
85 |
3 |
p. 419-
1 p.
|
artikel
|
| 6 |
Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females
|
Giorda, Roberto
|
|
2009
|
85 |
3 |
p. 394-400
7 p.
|
artikel
|
| 7 |
Epistasis and Its Implications for Personal Genetics
|
Moore, Jason H.
|
|
2009
|
85 |
3 |
p. 309-320
12 p.
|
artikel
|
| 8 |
Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism
|
Steinfeld, Robert
|
|
2009
|
85 |
3 |
p. 354-363
10 p.
|
artikel
|
| 9 |
FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome
|
Alazami, Anas M.
|
|
2009
|
85 |
3 |
p. 414-418
5 p.
|
artikel
|
| 10 |
Genetic Rounds: A Doctor's Encounters in the Field that Revolutionized Medicine
|
McCandless, Shawn E.
|
|
2009
|
85 |
3 |
p. 308-
1 p.
|
artikel
|
| 11 |
Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans
|
Grillet, Nicolas
|
|
2009
|
85 |
3 |
p. 328-337
10 p.
|
artikel
|
| 12 |
Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia
|
Lausch, Ekkehart
|
|
2009
|
85 |
3 |
p. 420-
1 p.
|
artikel
|
| 13 |
Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
|
Gueneau, Lucie
|
|
2009
|
85 |
3 |
p. 338-353
16 p.
|
artikel
|
| 14 |
The Editors' Recollections on the Occasion of the 60th Anniversary of The American Journal of Human Genetics
|
|
|
2009
|
85 |
3 |
p. 321-327
7 p.
|
artikel
|
| 15 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2009
|
85 |
3 |
p. 305-307
3 p.
|
artikel
|
| 16 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2009
|
85 |
3 |
p. 303-304
2 p.
|
artikel
|
Tijdschrift beschrijving