| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians
|
Reis, André F.
|
|
2000
|
107 |
2 |
p. 138-144
|
artikel
|
| 2 |
Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians
|
Reis, André F.
|
|
2000
|
107 |
2 |
p. 138-144
|
artikel
|
| 3 |
Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis
|
Koptides, Michael
|
|
2000
|
107 |
2 |
p. 115-126
|
artikel
|
| 4 |
Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis
|
Koptides, Michael
|
|
2000
|
107 |
2 |
p. 115-126
|
artikel
|
| 5 |
Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13
|
Bonthron, David T.
|
|
2000
|
107 |
2 |
p. 165-175
|
artikel
|
| 6 |
Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13
|
Bonthron, David T.
|
|
2000
|
107 |
2 |
p. 165-175
|
artikel
|
| 7 |
Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles
|
Castellví-Bel, Sergi
|
|
2000
|
107 |
2 |
p. 195-196
|
artikel
|
| 8 |
Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles
|
Castellví-Bel, Sergi
|
|
2000
|
107 |
2 |
p. 195-196
|
artikel
|
| 9 |
Genetic association studies of bronchial asthma – a need for Bonferroni correction?
|
Krawczak, Michael
|
|
2000
|
107 |
2 |
p. 197
|
artikel
|
| 10 |
Genetic background of apparently idiopathic sporadic cerebellar ataxia
|
Schöls, Ludger
|
|
2000
|
107 |
2 |
p. 132-137
|
artikel
|
| 11 |
Genetic background of apparently idiopathic sporadic cerebellar ataxia
|
Schöls, Ludger
|
|
2000
|
107 |
2 |
p. 132-137
|
artikel
|
| 12 |
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21
|
Guipponi, Michel
|
|
2000
|
107 |
2 |
p. 127-131
|
artikel
|
| 13 |
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21
|
Guipponi, Michel
|
|
2000
|
107 |
2 |
p. 127-131
|
artikel
|
| 14 |
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2)
|
Webster, Kylie E.
|
|
2000
|
107 |
2 |
p. 176-185
|
artikel
|
| 15 |
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2)
|
Webster, Kylie E.
|
|
2000
|
107 |
2 |
p. 176-185
|
artikel
|
| 16 |
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by ε-AChR subunit truncating mutations
|
Sieb, Jörn P.
|
|
2000
|
107 |
2 |
p. 160-164
|
artikel
|
| 17 |
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by ε-AChR subunit truncating mutations
|
Sieb, Jörn P.
|
|
2000
|
107 |
2 |
p. 160-164
|
artikel
|
| 18 |
Molecular genetic advances in tuberous sclerosis
|
Cheadle, Jeremy P.
|
|
2000
|
107 |
2 |
p. 97-114
|
artikel
|
| 19 |
Molecular genetic advances in tuberous sclerosis
|
Cheadle, Jeremy P.
|
|
2000
|
107 |
2 |
p. 97-114
|
artikel
|
| 20 |
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia
|
Grigelioniene, Giedre
|
|
2000
|
107 |
2 |
p. 145-149
|
artikel
|
| 21 |
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia
|
Grigelioniene, Giedre
|
|
2000
|
107 |
2 |
p. 145-149
|
artikel
|
| 22 |
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms
|
Robreau-Fraolini, A.M.
|
|
2000
|
107 |
2 |
p. 150-159
|
artikel
|
| 23 |
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms
|
Robreau-Fraolini, A.M.
|
|
2000
|
107 |
2 |
p. 150-159
|
artikel
|
| 24 |
Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer
|
Gao, Qing
|
|
2000
|
107 |
2 |
p. 186-191
|
artikel
|
| 25 |
Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer
|
Gao, Qing
|
|
2000
|
107 |
2 |
p. 186-191
|
artikel
|
| 26 |
Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer
|
Opolade, Olufunmilayo I.
|
|
2000
|
107 |
2 |
p. 192-194
|
artikel
|
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