Skip to main content
مکتبة رقمیه للعلوم الطبيه
Your cart is empty.
Cart
Lists
Your lists
Log in to create your own lists
Log in to your account
Your cookies
Search history
Search the catalog by:
Library catalog
Title
Author
Subject
ISBN
ISSN
Series
Call number
Search the catalog by keyword
Advanced search
Authority search
Tag cloud
Library
Log in to your account
Home
Advanced search
Results of search for 'au:"Defesche, J"', page 1 of 3
Refine your search
Availability
Limit to records with available items
Authors
Alonso, R
Bakker, E
Bakker, H D
Bolhuis, P A
Dallinga-Thie, G M
Defesche, J
Defesche, J C
Durst, R
Fouchier, S W
Friedlander, Y
Havekes, L M
Hayden, M R
Huijgen, R
Kamerling, S W
Kastelein, J J
Kastelein, J J P
Lansberg, P J
Lombardi, P
Peter, J
Reymer, P W
Show more
Show less
Topics
Adolescent
Adult
Aged
Apolipoproteins B
Child
Child, Preschool
Female
Heterozygote
Humans
Hyperlipoproteinemia Type II
Male
Middle Aged
Mutation
Netherlands
Pedigree
Point Mutation
Receptors, LDL
blood
epidemiology
genetics
Show more
Show less
Languages
Dutch
English
g d
Your search returned 48 results.
Sort
1
2
3
Next
Last
Sort by:
Relevance
Popularity (most to least)
Popularity (least to most)
Author (A-Z)
Author (Z-A)
Call number (0-9 to A-Z)
Call number (Z-A to 9-0)
Publication/Copyright date: Newest to oldest
Publication/Copyright date: Oldest to newest
Acquisition date: Newest to oldest
Acquisition date: Oldest to newest
Title (A-Z)
Title (Z-A)
Unhighlight
Highlight
Select all
Clear all
Select titles to:
Add to cart
Add to list
New list
Place hold
Results
1.
Molecular epidemiology of familial hypercholesterolaemia.
[electronic resource]
by
Defesche, J C
Kastelein, J J
Producer:
19981230
In:
Lancet (London, England)
vol. 352
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
2.
[Is detection and treatment of familial hypercholesterolemia indicated in children?].
[electronic resource]
by
Bakker, H D
Wiegman, A
Defesche, J C
Kastelein, J J
Producer:
19980722
In:
Nederlands tijdschrift voor geneeskunde
vol. 141
Availability:
No items available.
Save to lists
Add to cart
(remove)
3.
Differential diagnosis of genetic disease by DNA restriction fragment length polymorphisms.
[electronic resource]
by
Bolhuis, P A
Defesche, J C
van der Helm, H J
Producer:
19871027
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 165
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
4.
Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia.
[electronic resource]
by
Defesche, J C
Van Diermen, D E
Hayden, M R
Kastelein, J P
Producer:
19970206
In:
Gene geography : a computerized bulletin on human gene frequencies
vol. 10
Availability:
No items available.
Save to lists
Add to cart
(remove)
5.
Molecular genetics and gene expression in atherosclerosis.
[electronic resource]
by
Doevendans, P A
Jukema, W
Spiering, W
Defesche, J C
Kastelein, J J
Producer:
20011218
In:
International journal of cardiology
vol. 80
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
6.
[The treatment of familial hypercholesterolemia].
[electronic resource]
by
Lansberg, P J
Kastelein, J J
Defesche, J C
ten Cate, J W
Producer:
19920514
In:
Nederlands tijdschrift voor geneeskunde
vol. 136
Availability:
No items available.
Save to lists
Add to cart
(remove)
7.
The molecular basis of familial hypercholesterolemia in The Netherlands.
[electronic resource]
by
Fouchier, S W
Defesche, J C
Umans-Eckenhausen, M W
Kastelein, J P
Producer:
20020215
In:
Human genetics
vol. 109
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
8.
Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia.
[electronic resource]
by
Lombardi, P
Kamerling, S W
Defesche, J C
Kastelein, J J
Havekes, L M
Producer:
19970509
In:
Clinical genetics
vol. 50
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
9.
A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.
[electronic resource]
by
Lombardi, P
Defesche, J C
Kamerling, S W
Kastelein, J J
Havekes, L M
Producer:
19970723
In:
Clinical genetics
vol. 51
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
10.
Integration of transfected LTR sequences into the c-raf proto-oncogene: activation by promoter insertion.
[electronic resource]
by
Mölders, H
Defesche, J
Müller, D
Bonner, T I
Rapp, U R
Müller, R
Producer:
19850806
In:
The EMBO journal
vol. 4
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
11.
A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.
[electronic resource]
by
Lombardi, P
Defesche, J C
Kamerling, S W
Kastelein, J J
Havekes, L M
Producer:
19970925
In:
Clinical genetics
vol. 51
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
12.
Analysis of the Afrikaner mutation in exon 9 of the low-density lipoprotein receptor gene in a large Dutch kindred suffering from familial hypercholesterolaemia.
[electronic resource]
by
Defesche, J C
Lansberg, P J
Reymer, P W
Lamping, R J
Kastelein, J J
Producer:
19930406
In:
The Netherlands journal of medicine
vol. 42
Availability:
No items available.
Save to lists
Add to cart
(remove)
13.
[Tracing of patients with familial hypercholesterolemia in the Netherlands].
[electronic resource]
by
Umans-Eckenhausen, M A
Defesche, J C
Scheerder, R L
Cliné, F
Kastelein, J J
Producer:
19990722
In:
Nederlands tijdschrift voor geneeskunde
vol. 143
Availability:
No items available.
Save to lists
Add to cart
(remove)
14.
Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17.
[electronic resource]
by
Defesche, J C
Hoogendijk, J E
de Visser, M
de Visser, O
Bolhuis, P A
Producer:
19901002
In:
Neurology
vol. 40
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
15.
Decreased resistance against in vitro oxidation of LDL from patients with familial defective apolipoprotein B-100.
[electronic resource]
by
Stalenhoef, A F
Defesche, J C
Kleinveld, H A
Demacker, P N
Kastelein, J J
Producer:
19940412
In:
Arteriosclerosis and thrombosis : a journal of vascular biology
vol. 14
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
16.
An unusual variant of Becker muscular dystrophy.
[electronic resource]
by
de Visser, M
Bakker, E
Defesche, J C
Bolhuis, P A
van Ommen, G J
Producer:
19900731
In:
Annals of neurology
vol. 27
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
17.
Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands.
[electronic resource]
by
Umans-Eckenhausen, M A
Defesche, J C
Sijbrands, E J
Scheerder, R L
Kastelein, J J
Producer:
20010315
In:
Lancet (London, England)
vol. 357
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
18.
[Higher prevalence of familial hypercholesterolemia than expected in adult patients of four family practices in Netherlands].
[electronic resource]
by
Lansberg, P J
Tuzgöl, S
van de Ree, M A
Defesche, J C
Kastelein, J J
Producer:
20000829
In:
Nederlands tijdschrift voor geneeskunde
vol. 144
Availability:
No items available.
Save to lists
Add to cart
(remove)
19.
Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia.
[electronic resource]
by
Defesche, J C
Pricker, K L
Hayden, M R
van der Ende, B E
Kastelein, J J
Producer:
19931109
In:
Archives of internal medicine
vol. 153
Availability:
No items available.
Save to lists
Add to cart
(remove)
20.
DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases.
[electronic resource]
by
Defesche, J C
de Vissar, M
Bakker, E
Bouwsma, G
de Vijlder, J J
Bolhuis, P A
Producer:
19890613
In:
Human genetics
vol. 82
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
1
2
3
Next
Last