| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)
|
Sheridan, Molly B.
|
|
2010
|
87 |
2 |
p. 209-218
10 p.
|
artikel
|
| 2 |
Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase
|
Dvir, Liron
|
|
2010
|
87 |
2 |
p. 258-264
7 p.
|
artikel
|
| 3 |
Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes
|
Li, Mingkun
|
|
2010
|
87 |
2 |
p. 237-249
13 p.
|
artikel
|
| 4 |
Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
|
Malan, Valérie
|
|
2010
|
87 |
2 |
p. 189-198
10 p.
|
artikel
|
| 5 |
Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
|
Whibley, Annabel C.
|
|
2010
|
87 |
2 |
p. 173-188
16 p.
|
artikel
|
| 6 |
FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?
|
Shaheen, Ranad
|
|
2010
|
87 |
2 |
p. 306-307
2 p.
|
artikel
|
| 7 |
Genetic Self Knowledge and the Future of Epidemiologic Confounding
|
Weele, Tyler Vander
|
|
2010
|
87 |
2 |
p. 168-172
5 p.
|
artikel
|
| 8 |
Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
|
Williams, Stephen R.
|
|
2010
|
87 |
2 |
p. 219-228
10 p.
|
artikel
|
| 9 |
Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
|
Martinelli, Simone
|
|
2010
|
87 |
2 |
p. 250-257
8 p.
|
artikel
|
| 10 |
Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome
|
Tukel, Turgut
|
|
2010
|
87 |
2 |
p. 289-296
8 p.
|
artikel
|
| 11 |
Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease
|
Oji, Vinzenz
|
|
2010
|
87 |
2 |
p. 274-281
8 p.
|
artikel
|
| 12 |
Microdeletions of 3q29 Confer High Risk for Schizophrenia
|
Mulle, Jennifer Gladys
|
|
2010
|
87 |
2 |
p. 229-236
8 p.
|
artikel
|
| 13 |
Mutations in HPSE2 Cause Urofacial Syndrome
|
Daly, Sarah B.
|
|
2010
|
87 |
2 |
p. 309-
1 p.
|
artikel
|
| 14 |
Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa
|
Bandah-Rozenfeld, Dikla
|
|
2010
|
87 |
2 |
p. 199-208
10 p.
|
artikel
|
| 15 |
Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome
|
Brancati, Francesco
|
|
2010
|
87 |
2 |
p. 265-273
9 p.
|
artikel
|
| 16 |
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
|
Pierce, Sarah B.
|
|
2010
|
87 |
2 |
p. 282-288
7 p.
|
artikel
|
| 17 |
Response to Shaheen et al.
|
Alanay, Yasemin
|
|
2010
|
87 |
2 |
p. 308-
1 p.
|
artikel
|
| 18 |
Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record
|
Ritchie, Marylyn D.
|
|
2010
|
87 |
2 |
p. 310-
1 p.
|
artikel
|
| 19 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2010
|
87 |
2 |
p. 165-167
3 p.
|
artikel
|
| 20 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2010
|
87 |
2 |
p. 163-164
2 p.
|
artikel
|
| 21 |
Whole-Genome Genetic Diversity in a Sample of Australians with Deep Aboriginal Ancestry
|
McEvoy, Brian P.
|
|
2010
|
87 |
2 |
p. 297-305
9 p.
|
artikel
|
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