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Results of search for 'au:"Fryns, J.-P."', page 39 of 56
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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
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Topics
Abnormalities, Multiple
Adolescent
Adult
Child
Child, Preschool
Chromosome Aberrations
Chromosome Deletion
Female
Humans
Infant
Infant, Newborn
Intellectual Disability
Karyotyping
Male
Phenotype
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abnormalities
diagnosis
genetics
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761.
De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.
[electronic resource]
by
Frints, S G
Schoenmakers, E F
Smeets, E
Petit, P
Fryns, J P
Producer:
19980324
In:
American journal of medical genetics
vol. 75
Online resources:
Available from publisher's website
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762.
Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia?
[electronic resource]
by
Moog, U
Schoonbrood-Lenssen, A M
Schrander-Stumpel, C T
Fryns, J P
Producer:
19981202
In:
Genetic counseling (Geneva, Switzerland)
vol. 9
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763.
Syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).
[electronic resource]
by
Legius, E
Daenen, W
Vandenbergh, V
Verbeeck, G
Bex, M
Fryns, J P
Producer:
19990414
In:
Genetic counseling (Geneva, Switzerland)
vol. 9
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764.
The association of hemifacial microsomia, homolateral micro/anophthalmos, hemihypotrophy, dental anomalies, submucous cleft palate, CNS malformations and hypopigmented skin lesions following Blaschko's lines in two unrelated female patients. Further evidence for a lethal mutation surviving in mosaic form in "hypomelanosis of Ito".
[electronic resource]
by
Fryns, J P
Lemaire, J
Timmermans, J
Soekarman, D
Van den Berghe, H
Producer:
19930517
In:
Genetic counseling (Geneva, Switzerland)
vol. 4
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765.
Further evidence for the location of the BPES gene at 3q2.
[electronic resource]
by
de Die-Smulders, C E
Engelen, J J
Donk, J M
Fryns, J P
Producer:
19911216
In:
Journal of medical genetics
vol. 28
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766.
A genetic-diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience.
[electronic resource]
by
Dereymaeker, A M
Fryns, J P
Haegeman, J
Deroover, J
Van den Berghe, H
Producer:
19890111
In:
Clinical genetics
vol. 34
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767.
Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report.
[electronic resource]
by
Ramaekers, P R
Legius, E
Verloes, A
Gillerot, Y
Vandenberghe, K
Fryns, J P
Producer:
19900816
In:
European journal of obstetrics, gynecology, and reproductive biology
vol. 36
Online resources:
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768.
De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24).
[electronic resource]
by
Jaeken, J
Fryns, J P
Standaert, L
De Cock, P
Van den Berghe, H
Producer:
19800926
In:
Annales de genetique
vol. 23
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769.
Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance.
[electronic resource]
by
Buttiëns, M
Fryns, J P
Jonckheere, P
Brouckmans-Buttiëns, K
Van den Berghe, H
Producer:
19851017
In:
Human genetics
vol. 71
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770.
Multiple synostosis syndrome.
[electronic resource]
by
Pedersen, J C
Fryns, J P
Carpentier, G
Heremans, G
Van den Berghe, H
Producer:
19810116
In:
European journal of pediatrics
vol. 134
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771.
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).
[electronic resource]
by
Devriendt, K
Matthijs, G
Meireleire, J
Roelen, L
van Buggenhout, G
Fryns, J P
Producer:
19990414
In:
Genetic counseling (Geneva, Switzerland)
vol. 9
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772.
Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
[electronic resource]
by
Vantrappen, G
Rommel, N
Devriendt, K
Cremers, C W
Feenstra, L
Fryns, J P
Producer:
20010628
In:
Acta oto-rhino-laryngologica Belgica
vol. 55
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773.
Distinct and diagnostic "facial gestalt" in X-linked Opitz G/BBB syndrome.
[electronic resource]
by
Fryns, J P
Ioan, D M
Buruianâ, F
Pleşca, D
Dragomiz, D
Popescu, V
Producer:
19991227
In:
Genetic counseling (Geneva, Switzerland)
vol. 10
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774.
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.
[electronic resource]
by
Vermeesch, J R
Thoelen, R
Salden, I
Raes, M
Matthijs, G
Fryns, J-P
Producer:
20031103
In:
Journal of medical genetics
vol. 40
Online resources:
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775.
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance.
[electronic resource]
by
Witters, I
Devriendt, K
Moerman, P
Caudron, J
Van Hole, C
Fryns, J P
Producer:
20020115
In:
American journal of medical genetics
vol. 104
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776.
No significant increase in spontaneous and ethyl methane sulfonate-induced sister chromatid exchanges at the Xq27.3 fragile site.
[electronic resource]
by
Lukusa, T
Meulepas, E
Fryns, J P
Van den Berghe, H
Cassiman, J J
Producer:
19901018
In:
Cancer genetics and cytogenetics
vol. 49
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777.
Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family.
[electronic resource]
by
Floor, E
De Jong, R O
Fryns, J P
Smulders, C
Vles, J S
Producer:
19891129
In:
Clinical genetics
vol. 36
Online resources:
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778.
Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+.
[electronic resource]
by
Van den Berghe, H
Van Eygen, M
Fryns, J P
Tanghe, W
Verresen, H
Producer:
19730926
In:
Humangenetik
vol. 18
Online resources:
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779.
Melorheostosis in a 3-year-old girl.
[electronic resource]
by
Fryns, J P
Pedersen, J C
Vanfleteren, L
Vandeputte, F
Van den Berghe, H
Producer:
19810513
In:
Acta paediatrica Belgica
vol. 33
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780.
Deletion of the short arm of chromosome 9. A clinically recognisable entity.
[electronic resource]
by
Fryns, J P
Pedersen, J C
Duyck, H
Fabry, G
Van den Berghe, H
Producer:
19810116
In:
European journal of pediatrics
vol. 134
Online resources:
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