| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5
|
Krgovic, Danijela
|
|
2014
|
15 |
1 |
|
artikel
|
| 2 |
Adult phenotype and further phenotypic variability in SRD5A3-CDG
|
Kara, Bülent
|
|
2014
|
15 |
1 |
|
artikel
|
| 3 |
Annual acknowledgement of reviewers
|
Sands, Timothy R
|
|
2014
|
15 |
1 |
|
artikel
|
| 4 |
A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family
|
Yu, Yibo
|
|
2014
|
15 |
1 |
|
artikel
|
| 5 |
A recall-by-genotype study of CHRNA5-A3-B4 genotype, cotinine and smoking topography: study protocol
|
Ware, Jennifer J
|
|
2014
|
15 |
1 |
|
artikel
|
| 6 |
Associations between interleukin-1 gene polymorphisms and sepsis risk: a meta-analysis
|
Zhang, An-qiang
|
|
2014
|
15 |
1 |
|
artikel
|
| 7 |
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene
|
Cappuccio, Gerarda
|
|
2014
|
15 |
1 |
|
artikel
|
| 8 |
CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis
|
Carpenter, Danielle
|
|
2014
|
15 |
1 |
|
artikel
|
| 9 |
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
|
Lepri, Francesca Romana
|
|
2014
|
15 |
1 |
|
artikel
|
| 10 |
Differences in serum SP-D levels between German and Japanese subjects are associated with SFTPD gene polymorphisms
|
Horimasu, Yasushi
|
|
2014
|
15 |
1 |
|
artikel
|
| 11 |
Endothelial nitric oxide synthase gene polymorphisms and risk of diabetic nephropathy: a systematic review and meta-analysis
|
Dellamea, Bruno Schmidt
|
|
2014
|
15 |
1 |
|
artikel
|
| 12 |
Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
|
Xu, Wei
|
|
2014
|
15 |
1 |
|
artikel
|
| 13 |
Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
|
Cirillo, Emilia
|
|
2014
|
15 |
1 |
|
artikel
|
| 14 |
Molecular characteristics of mismatch repair genes in sporadic colorectal tumors in Czech patients
|
Vymetalkova, Veronika Polakova
|
|
2014
|
15 |
1 |
|
artikel
|
| 15 |
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity
|
Jeannin, Guido
|
|
2014
|
15 |
1 |
|
artikel
|
| 16 |
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations
|
Østern, Rune
|
|
2014
|
15 |
1 |
|
artikel
|
| 17 |
The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency
|
Fabbri, Helena Campos
|
|
2014
|
15 |
1 |
|
artikel
|
| 18 |
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype
|
Stagi, Stefano
|
|
2014
|
15 |
1 |
|
artikel
|
| 19 |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
|
Ortube, Maria Carolina
|
|
2014
|
15 |
1 |
|
artikel
|
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