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:"Fryns, J.-P."', page 49 of 56
Refine your search
Availability
Limit to records with available items
Authors
Borghgraef, M
Cassiman, J J
De Smet, L
Devriendt, K
Fryns, J P
Fryns, J-P
Kleczkowska, A
Legius, E
Lukusa, T
Moerman, P
Petit, P
Schrander-Stumpel, C
Swillen, A
Van Den Berghe, H
Van den Berghe, H
Vandenberghe, K
Vermeesch, J R
Vogels, A
Witters, I
van den Berghe, H
Show more
Show less
Topics
Abnormalities, Multiple
Adolescent
Adult
Child
Child, Preschool
Chromosome Aberrations
Chromosome Deletion
Female
Humans
Infant
Infant, Newborn
Intellectual Disability
Karyotyping
Male
Phenotype
Pregnancy
Syndrome
abnormalities
diagnosis
genetics
Show more
Show less
Languages
English
French
g d
Your search returned 1120 results.
Sort
First
Previous
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
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
961.
A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience.
[electronic resource]
by
Schaap, C
Schrander-Stumpel, C T
Colla-Pijkels, E T
Van Driessche, J
Kusters, R
Fryns, J P
Producer:
19960325
In:
Genetic counseling (Geneva, Switzerland)
vol. 6
Availability:
No items available.
Save to lists
Add to cart
(remove)
962.
Angelman syndrome in three adult patients with atypical presentation and severe neurological complications.
[electronic resource]
by
Van Buggenhout, G J
Descheemaeker, M J
Thiry, P
Trommelen, J C
Hamel, B C
Fryns, J P
Producer:
20010215
In:
Genetic counseling (Geneva, Switzerland)
vol. 11
Availability:
No items available.
Save to lists
Add to cart
(remove)
963.
Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome.
[electronic resource]
by
Vogel, F
Krüger, J
Nielsen, K B
Fryns, J P
Schindler, D
Schinzel, A
Schmidt, A
Schwinger, E
Producer:
19851017
In:
Human genetics
vol. 71
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
964.
Screening test for ataxia telangiectasia.
[electronic resource]
by
Schindler, D
Seyschab, H
Poot, M
Hoehn, H
Schinzel, A
Fryns, J P
Tommerup, N
Rabinovitch, P S
Producer:
19880121
In:
Lancet (London, England)
vol. 2
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
965.
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?
[electronic resource]
by
Spaepen, A
Schrander-Stumpel, C
Fryns, J P
de Die-Smulders, C
Borghgraef, M
Van den Berghe, H
Producer:
19920228
In:
American journal of medical genetics
vol. 41
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
966.
Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.
[electronic resource]
by
Legius, E
Descheemaeker, M J
Steyaert, J
Spaepen, A
Vlietinck, R
Casaer, P
Demaerel, P
Fryns, J P
Producer:
19960118
In:
Journal of neurology, neurosurgery, and psychiatry
vol. 59
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
967.
Clinical profile of Angelman syndrome at different ages.
[electronic resource]
by
Buntinx, I M
Hennekam, R C
Brouwer, O F
Stroink, H
Beuten, J
Mangelschots, K
Fryns, J P
Producer:
19950828
In:
American journal of medical genetics
vol. 56
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
968.
The Coffin-Lowry syndrome. A study of two new index patients and their families.
[electronic resource]
by
Haspeslagh, M
Fryns, J P
Beusen, L
Van Dessel, F
Vinken, L
Moens, E
Van den Berghe, H
Producer:
19850307
In:
European journal of pediatrics
vol. 143
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
969.
Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22).
[electronic resource]
by
Fryns, J P
Kleczkowska, A
Dereymaker, A M
Hoefnagels, M
Heremans, G
Marien, J
van den Berghe, H
Producer:
19860219
In:
Clinical genetics
vol. 28
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
970.
Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum.
[electronic resource]
by
Descheemaeker, M J
Vogels, A
Govers, V
Borghgraef, M
Willekens, D
Swillen, A
Verhoeven, W
Fryns, J P
Producer:
20020327
In:
Journal of intellectual disability research : JIDR
vol. 46
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
971.
Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions.
[electronic resource]
by
Vanneste, E
Melotte, C
Debrock, S
D'Hooghe, T
Brems, H
Fryns, J P
Legius, E
Vermeesch, J R
Producer:
20090825
In:
Human reproduction (Oxford, England)
vol. 24
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
972.
Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.
[electronic resource]
by
Isrie, M
Froyen, G
Devriendt, K
de Ravel, T
Fryns, J P
Vermeesch, J R
Van Esch, H
Producer:
20130218
In:
European journal of medical genetics
vol. 55
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
973.
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.
[electronic resource]
by
Schrander-Stumpel, C
Höweler, C
Jones, M
Sommer, A
Stevens, C
Tinschert, S
Israel, J
Fryns, J P
Producer:
19950921
In:
American journal of medical genetics
vol. 57
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
974.
Fetal akinesia sequence caused by nemaline myopathy.
[electronic resource]
by
Lammens, M
Moerman, P
Fryns, J P
Lemmens, F
van de Kamp, G M
Goemans, N
Dom, R
Producer:
19970821
In:
Neuropediatrics
vol. 28
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
975.
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type.
[electronic resource]
by
Witters, I
Moerman, Ph
Devriendt, K
Braet, P
Van Schoubroeck, D
Van Assche, F A
Fryns, J P
Producer:
20020802
In:
American journal of medical genetics
vol. 108
Availability:
No items available.
Save to lists
Add to cart
(remove)
976.
Neonatal haemochromatosis.
[electronic resource]
by
Moerman, P
Pauwels, P
Vandenberghe, K
Devlieger, H
Fryns, J P
Verresen, H
Jaeken, J
Lauweryns, J
Eggermont, E
Producer:
19910125
In:
Histopathology
vol. 17
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
977.
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
[electronic resource]
by
Devriendt, K
Matthijs, G
Van Damme, B
Van Caesbroeck, D
Eccles, M
Vanrenterghem, Y
Fryns, J P
Leys, A
Producer:
19981023
In:
Human genetics
vol. 103
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
978.
Psychological functioning before predictive testing for Huntington's disease: the role of the parental disease, risk perception, and subjective proximity of the disease.
[electronic resource]
by
Decruyenaere, M
Evers-Kiebooms, G
Boogaerts, A
Cassiman, J J
Cloostermans, T
Demyttenaere, K
Dom, R
Fryns, J P
Producer:
20000107
In:
Journal of medical genetics
vol. 36
Availability:
No items available.
Save to lists
Add to cart
(remove)
979.
Preaxial polydactyly in the 4p- syndrome.
[electronic resource]
by
Schrander-Stumpel, C T
Rijnvos, W P
van der Blij-Philipsen, M
Drogtrop, A
Smeets, D
Fryns, J P
Producer:
19980710
In:
Genetic counseling (Geneva, Switzerland)
vol. 9
Availability:
No items available.
Save to lists
Add to cart
(remove)
980.
A comparative study on culture conditions and routine expansion of amniotic fluid-derived mesenchymal progenitor cells.
[electronic resource]
by
Gucciardo, L
Ochsenbein-Kölble, N
Ozog, Y
Verbist, G
Van Duppen, V
Fryns, J P
Lories, R
Deprest, J
Producer:
20140813
In:
Fetal diagnosis and therapy
vol. 34
Online resources:
Available from publisher's website
Availability:
No items available.
Save to lists
Add to cart
(remove)
First
Previous
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
Next
Last