| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 5q12.1–5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement
|
Cetin, Zafer
|
|
2013
|
516 |
1 |
p. 176-180
5 p.
|
artikel
|
| 2 |
Association of glutamate carboxypeptidase II (GCPII) haplotypes with breast and prostate cancer risk
|
Divyya, Shree
|
|
2013
|
516 |
1 |
p. 76-81
6 p.
|
artikel
|
| 3 |
Cloning and characterization of hypoxia-inducible factor-1 subunits from Ascaris suum — A parasitic nematode highly adapted to changes of oxygen conditions during its life cycle
|
Goto, Miho
|
|
2013
|
516 |
1 |
p. 39-47
9 p.
|
artikel
|
| 4 |
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations
|
Faletra, Flavio
|
|
2013
|
516 |
1 |
p. 122-125
4 p.
|
artikel
|
| 5 |
Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH)
|
Koika, Vasiliki
|
|
2013
|
516 |
1 |
p. 146-151
6 p.
|
artikel
|
| 6 |
Complex genetic susceptibility to vascular dementia and an evidence for its underlying genetic factors associated with memory and associative learning
|
Lee, Chaeyoung
|
|
2013
|
516 |
1 |
p. 152-157
6 p.
|
artikel
|
| 7 |
Editorial Board
|
|
|
2013
|
516 |
1 |
p. iv-v
nvt p.
|
artikel
|
| 8 |
Enrichment of meiotic recombination hotspot sequences by avidin capture technology
|
Camara Teixeira, Daniel
|
|
2013
|
516 |
1 |
p. 101-106
6 p.
|
artikel
|
| 9 |
Epiallele biogenesis in maize
|
Goettel, Wolfgang
|
|
2013
|
516 |
1 |
p. 8-23
16 p.
|
artikel
|
| 10 |
Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: Utility and limitations
|
Qi, Xiao-Ping
|
|
2013
|
516 |
1 |
p. 93-100
8 p.
|
artikel
|
| 11 |
Heat shock protein HSP70B as a marker for genotype resistance to environmental stress in Chlorella species from contrasting habitats
|
Chankova, Stephka
|
|
2013
|
516 |
1 |
p. 184-189
6 p.
|
artikel
|
| 12 |
Identification of a novel gene by whole human genome tiling array
|
Ishida, Hirokazu
|
|
2013
|
516 |
1 |
p. 33-38
6 p.
|
artikel
|
| 13 |
Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15
|
Hancarova, Miroslava
|
|
2013
|
516 |
1 |
p. 158-161
4 p.
|
artikel
|
| 14 |
Interferon induced with helicase C domain 1 (IFIH1): Trends on helicase domain and type 1 diabetes onset
|
Moura, Ronald
|
|
2013
|
516 |
1 |
p. 66-68
3 p.
|
artikel
|
| 15 |
KIR genes and HLA class I ligands in Gaucher disease
|
Vairo, Filippo
|
|
2013
|
516 |
1 |
p. 53-57
5 p.
|
artikel
|
| 16 |
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2
|
Marin, Samantha E.
|
|
2013
|
516 |
1 |
p. 162-167
6 p.
|
artikel
|
| 17 |
Molecular characterization of two y-type high molecular weight glutenin subunit alleles 1Ay12⁎ and 1Ay8⁎ from cultivated einkorn wheat (Triticum monococcum ssp. monococcum)
|
Guo, Xiao-Hui
|
|
2013
|
516 |
1 |
p. 1-7
7 p.
|
artikel
|
| 18 |
Molecular characterization of ZzR1 resistance gene from Zingiber zerumbet with potential for imparting Pythium aphanidermatum resistance in ginger
|
Nair, R. Aswati
|
|
2013
|
516 |
1 |
p. 58-65
8 p.
|
artikel
|
| 19 |
Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America
|
Kohan, Romina
|
|
2013
|
516 |
1 |
p. 114-121
8 p.
|
artikel
|
| 20 |
OCT1 identity crisis
|
Sreenivasan, Sandhya
|
|
2013
|
516 |
1 |
p. 190-191
2 p.
|
artikel
|
| 21 |
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination
|
Palumbo, Orazio
|
|
2013
|
516 |
1 |
p. 107-113
7 p.
|
artikel
|
| 22 |
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold
|
Chen, Chih-Ping
|
|
2013
|
516 |
1 |
p. 138-142
5 p.
|
artikel
|
| 23 |
Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
|
Chen, Chih-Ping
|
|
2013
|
516 |
1 |
p. 132-137
6 p.
|
artikel
|
| 24 |
Relationship between genetic variant in pre-microRNA-146a and genetic predisposition to temporal lobe epilepsy: A case–control study
|
Manna, Ida
|
|
2013
|
516 |
1 |
p. 181-183
3 p.
|
artikel
|
| 25 |
RNA-Seq reveals differentially expressed isoforms and novel splice variants in buccal mucosal cancer
|
Jakhesara, Subhash J.
|
|
2013
|
516 |
1 |
p. 24-32
9 p.
|
artikel
|
| 26 |
Stability of ultramer as copy number standards in real-time PCR
|
Viljoen, Christopher D.
|
|
2013
|
516 |
1 |
p. 143-145
3 p.
|
artikel
|
| 27 |
Structure, gene expression, and evolution of primate copper chaperone for superoxide dismutase
|
Fukuhara, Ryoji
|
|
2013
|
516 |
1 |
p. 69-75
7 p.
|
artikel
|
| 28 |
The association of a nucleobindin 2 gene (NUCB2) variant with childhood adiposity
|
Chen, Yan Yan
|
|
2013
|
516 |
1 |
p. 48-52
5 p.
|
artikel
|
| 29 |
The polymorphism −1131T>C in apolipoprotein A5 gene is associated with dyslipidemia in Brazilian subjects
|
Ferreira, Cláudia N.
|
|
2013
|
516 |
1 |
p. 171-175
5 p.
|
artikel
|
| 30 |
The reduction of Calpain-10 expression is associated with risk polymorphisms in obese children
|
Mendoza-Lorenzo, Patricia
|
|
2013
|
516 |
1 |
p. 126-131
6 p.
|
artikel
|
| 31 |
The WNT7A G204S mutation is associated with both Al-Awadi–Raas Rothschild syndrome and Fuhrmann syndrome phenotypes
|
Al-Qattan, M.M.
|
|
2013
|
516 |
1 |
p. 168-170
3 p.
|
artikel
|
| 32 |
Y-STR diversity and sex-biased gene flow among Caribbean populations
|
Simms, Tanya M.
|
|
2013
|
516 |
1 |
p. 82-92
11 p.
|
artikel
|
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