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Results of search for 'au:"Fryns, J.-P."', page 48 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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Abnormalities, Multiple
Adolescent
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Child, Preschool
Chromosome Aberrations
Chromosome Deletion
Female
Humans
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Infant, Newborn
Intellectual Disability
Karyotyping
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abnormalities
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941.
Terminal deletion of long arm of chromosome 4: patient report and literature review.
[electronic resource]
by
Evers, L J
Schrander-Stumpel, C T
Engelen, J J
Mulder, H
Borghgraef, M
Fryns, J P
Producer:
19930928
In:
Genetic counseling (Geneva, Switzerland)
vol. 4
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942.
Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review.
[electronic resource]
by
Frints, S G
Schrander-Stumpel, C T
Engelen, J J
Da Costa, A J
Fryns, J P
Producer:
19961217
In:
Genetic counseling (Geneva, Switzerland)
vol. 7
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943.
Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.
[electronic resource]
by
Vervoort, R
Buist, N R
Kleijer, W J
Wevers, R
Fryns, J P
Liebaers, I
Lissens, W
Producer:
19970512
In:
Human genetics
vol. 99
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944.
Origins of the fragile X syndrome mutation.
[electronic resource]
by
Hirst, M C
Knight, S J
Christodoulou, Z
Grewal, P K
Fryns, J P
Davies, K E
Producer:
19931108
In:
Journal of medical genetics
vol. 30
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945.
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report.
[electronic resource]
by
Pourjavan, S
Fryns, J P
Van Hove, J L K
Poorthuis, B J H M
Casteels, I
Producer:
20030326
In:
Bulletin de la Societe belge d'ophtalmologie
no. 286
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946.
Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?
[electronic resource]
by
Janssen, H C
Schaap, C
Vandevijver, N
Moerman, P
de Die-Smulders, C E
Fryns, J P
Producer:
20000725
In:
Journal of medical genetics
vol. 36
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947.
Laryngeal atresia sequence as part of the DiGeorge developmental field defect.
[electronic resource]
by
Moerman, P
de Zegher, F
Vandenberghe, K
Devlieger, H
Petit, P
Lauweryns, J M
Fryns, J P
Producer:
19921125
In:
Genetic counseling (Geneva, Switzerland)
vol. 3
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948.
Complete trisomy 8 in a polymalformed newborn.
[electronic resource]
by
Moerman, F
Fryns, J P
Goddeeris, P
Devlieger, H
Eggermont, E
Lauweryns, J
Van den Berghe, H
Producer:
19800726
In:
Acta paediatrica Belgica
vol. 32
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949.
XY/XXY mosaicism and fragile X syndrome.
[electronic resource]
by
Fryns, J P
Kleczkowska, A
Kubień, E
Petit, P
Haspeslagh, M
Lindemans, I
Van Den Berghe, H
Producer:
19840306
In:
Annales de genetique
vol. 26
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950.
Hydrometrocolpos--polydactyly syndrome in a macerated female foetus.
[electronic resource]
by
Haspeslagh, M
Fryns, J P
Van den Berghe, K
Goddeeris, P
Lauweryns, J
Van den Berghe, H
Producer:
19811029
In:
European journal of pediatrics
vol. 136
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951.
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia.
[electronic resource]
by
Groenen, P M
Garcia, E
Debeer, P
Devriendt, K
Fryns, J P
Van de Ven, W J
Producer:
19970325
In:
Genomics
vol. 38
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952.
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?
[electronic resource]
by
Moog, U
Maroteaux, P
Schrander-Stumpel, C T
van Ooij, A
Schrander, J J
Fryns, J P
Producer:
20000113
In:
Journal of medical genetics
vol. 36
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953.
Neuropathological findings in Moebius syndrome.
[electronic resource]
by
Lammens, M
Moerman, P h
Fryns, J P
Schröder, J M
Spinnewyn, D
Casaer, P
Dom, R
Producer:
19990607
In:
Clinical genetics
vol. 54
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954.
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.
[electronic resource]
by
Vogels, Annick
Van Den Ende, Jenneke
Keymolen, Kathelijne
Mortier, Geert
Devriendt, Koen
Legius, E
Fryns, J P
Producer:
20041106
In:
European journal of human genetics : EJHG
vol. 12
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955.
A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses.
[electronic resource]
by
Debeer, P
Fryns, J-P
Devriendt, K
Baten, E
Huysmans, C
Van de Ven, W J M
Producer:
20050218
In:
American journal of medical genetics. Part A
vol. 128A
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956.
DISC1 duplication in two brothers with autism and mild mental retardation.
[electronic resource]
by
Crepel, A
Breckpot, J
Fryns, J-P
De la Marche, W
Steyaert, J
Devriendt, K
Peeters, H
Producer:
20100914
In:
Clinical genetics
vol. 77
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957.
Growth properties and in vitro life span of Alzheimer disease and Down syndrome fibroblasts. A blind study.
[electronic resource]
by
Carmeliet, G
Hauman, R
Dom, R
David, G
Fryns, J P
Van den Berghe, H
Cassiman, J J
Producer:
19900524
In:
Mechanisms of ageing and development
vol. 53
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958.
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
[electronic resource]
by
Legius, E
Fryns, J P
Eyskens, B
Eggermont, E
Desmet, V
de Bethune, G
Van den Berghe, H
Producer:
19900607
In:
American journal of medical genetics
vol. 35
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959.
Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture.
[electronic resource]
by
McKinley, M J
Kearney, L U
Nicolaides, K H
Gosden, C M
Webb, T P
Fryns, J P
Producer:
19881108
In:
American journal of medical genetics
vol. 30
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960.
X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.
[electronic resource]
by
Claes, S
Devriendt, K
D'Adamo, P
Meireleire, J
Raeymaekers, P
Toniolo, D
Cassiman, J J
Fryns, J P
Producer:
19971107
In:
Clinical genetics
vol. 52
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