| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R
|
Ramanathan, Subhadra
|
|
2004
|
5 |
1 |
|
artikel
|
| 2 |
Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population
|
Barton, James C
|
|
2004
|
5 |
1 |
|
artikel
|
| 3 |
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects
|
Medlej-Hashim, Myrna
|
|
2004
|
5 |
1 |
|
artikel
|
| 4 |
Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults
|
Stoll, Christian
|
|
2004
|
5 |
1 |
|
artikel
|
| 5 |
A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
|
Pickard, Ben S
|
|
2004
|
5 |
1 |
|
artikel
|
| 6 |
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
|
Claustres, Mireille
|
|
2004
|
5 |
1 |
|
artikel
|
| 7 |
A study of the average effect of the 3'APOB-VNTR polymorphism on lipidemic parameters could explain why the short alleles (>35 repeats) are rare in centenarians
|
Garasto, Sabrina
|
|
2004
|
5 |
1 |
|
artikel
|
| 8 |
Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia
|
Ibay, Grace
|
|
2004
|
5 |
1 |
|
artikel
|
| 9 |
Catechol-O-Methyltransferase (COMT) Val108/158 Met polymorphism does not modulate executive function in children with ADHD
|
Taerk, Evan
|
|
2004
|
5 |
1 |
|
artikel
|
| 10 |
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
|
Ahmed, Zubair M
|
|
2004
|
5 |
1 |
|
artikel
|
| 11 |
CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
|
Blaisdell, Carol J
|
|
2004
|
5 |
1 |
|
artikel
|
| 12 |
Correction: Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients
|
Germain, Dominique P
|
|
2004
|
5 |
1 |
|
artikel
|
| 13 |
Elevated white cell count in acute coronary syndromes: relationship to variants in inflammatory and thrombotic genes
|
Byrne, Connie E
|
|
2004
|
5 |
1 |
|
artikel
|
| 14 |
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes
|
Hutcheson, Holli B
|
|
2004
|
5 |
1 |
|
artikel
|
| 15 |
Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease
|
Arning, Larissa
|
|
2004
|
5 |
1 |
|
artikel
|
| 16 |
HLA haplotypes associated with hemochromatosis mutations in the Spanish population
|
Pacho, Arantza
|
|
2004
|
5 |
1 |
|
artikel
|
| 17 |
HNPCC: Six new pathogenic mutations
|
Kunstmann, Erdmute
|
|
2004
|
5 |
1 |
|
artikel
|
| 18 |
Men's values-based factors on prostate cancer risk genetic testing: A telephone survey
|
Doukas, David J
|
|
2004
|
5 |
1 |
|
artikel
|
| 19 |
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
|
D'Apice, Maria Rosaria
|
|
2004
|
5 |
1 |
|
artikel
|
| 20 |
Molecular epidemiology of DFNB1 deafness in France
|
Roux, Anne-Françoise
|
|
2004
|
5 |
1 |
|
artikel
|
| 21 |
NAT gene polymorphisms and susceptibility to Alzheimer's disease: identification of a novel NAT1 allelic variant
|
Johnson, Nichola
|
|
2004
|
5 |
1 |
|
artikel
|
| 22 |
Neural network analysis in pharmacogenetics of mood disorders
|
Serretti, Alessandro
|
|
2004
|
5 |
1 |
|
artikel
|
| 23 |
Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)
|
Thongnoppakhun, Wanna
|
|
2004
|
5 |
1 |
|
artikel
|
| 24 |
PAX6 gene variations associated with aniridia in south India
|
Neethirajan, Guruswamy
|
|
2004
|
5 |
1 |
|
artikel
|
| 25 |
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment
|
Gould, Douglas B
|
|
2004
|
5 |
1 |
|
artikel
|
| 26 |
The impact of population heterogeneity on risk estimation in genetic counseling
|
Liu, Wenlei
|
|
2004
|
5 |
1 |
|
artikel
|
| 27 |
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
|
Christophe-Hobertus, Christiane
|
|
2004
|
5 |
1 |
|
artikel
|
| 28 |
TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease
|
Li, Quanyi
|
|
2004
|
5 |
1 |
|
artikel
|
| 29 |
What is the impact of the ACE gene insertion/deletion (I/D) polymorphism on the clinical effectiveness and adverse events of ACE inhibitors? – Protocol of a systematic review
|
Scharplatz, M
|
|
2004
|
5 |
1 |
|
artikel
|
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