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Results of search for 'au:"Fryns, J.-P."', page 51 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
Adult
Child
Child, Preschool
Chromosome Aberrations
Chromosome Deletion
Female
Humans
Infant
Infant, Newborn
Intellectual Disability
Karyotyping
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abnormalities
diagnosis
genetics
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1001.
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
[electronic resource]
by
Schrander-Stumpel, C T
Höweler, C J
Reekers, A D
De Smet, N M
Hall, J G
Fryns, J P
Producer:
19930219
In:
Journal of medical genetics
vol. 30
Online resources:
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1002.
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.
[electronic resource]
by
Plomp, A S
De Die-Smulders, C E
Meinecke, P
Ypma-Verhulst, J M
Lissone, D A
Fryns, J P
Producer:
19960325
In:
Genetic counseling (Geneva, Switzerland)
vol. 6
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1003.
Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome.
[electronic resource]
by
van den Borne, H W
van Hooren, R H
van Gestel, M
Rienmeijer, P
Fryns, J P
Curfs, L M
Producer:
20000727
In:
Patient education and counseling
vol. 38
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1004.
A 4-Mb BAC/PAC contig and complete genomic structure of the GPC5/GPC6 gene cluster on chromosome 13q32.
[electronic resource]
by
Veugelers, M
De Cat, B
Delande, N
Esselens, C
Bonk, I
Vermeesch, J
Marynen, P
Fryns, J P
David, G
Producer:
20020123
In:
Matrix biology : journal of the International Society for Matrix Biology
vol. 20
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1005.
Genetic heterogeneity of gingival fibromatosis on chromosome 2p.
[electronic resource]
by
Shashi, V
Pallos, D
Pettenati, M J
Cortelli, J R
Fryns, J P
von Kap-Herr, C
Hart, T C
Producer:
19991027
In:
Journal of medical genetics
vol. 36
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1006.
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
[electronic resource]
by
Smeets, E
Schollen, E
Moog, U
Matthijs, G
Herbergs, J
Smeets, H
Curfs, L
Schrander-Stumpel, C
Fryns, J P
Producer:
20040422
In:
American journal of medical genetics. Part A
vol. 122A
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1007.
Cryptic translocation t(5;18) in familial mental retardation.
[electronic resource]
by
Vogels, A
Devriendt, K
Vermeesch, J R
Van Dael, R
Marynen, P
Dewaele, P
Hageman, J
Holvoet, M
Fryns, J P
Producer:
20010412
In:
Annales de genetique
vol. 43
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1008.
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.
[electronic resource]
by
Van Buggenhout, G J
Trijbels, J M
Wevers, R
Trommelen, J C
Hamel, B C
Brunner, H G
Fryns, J P
Producer:
20010726
In:
Genetic counseling (Geneva, Switzerland)
vol. 12
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1009.
Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH.
[electronic resource]
by
Engelen, J J
Loots, W J
Albrechts, J C
Motoh, P C
Fryns, J P
Hamers, A J
Geraedts, J P
Producer:
19961203
In:
Journal of medical genetics
vol. 33
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1010.
A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy.
[electronic resource]
by
Steyaert, J
Umans, S
Willekens, D
Legius, E
Pijkels, E
de Die-Smulders, C
Van den Berghe, H
Fryns, J P
Producer:
19971107
In:
Clinical genetics
vol. 52
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1011.
Cloning, characterization, and chromosomal localization to 4p16 of the human gene (LRPAP1) coding for the alpha 2-macroglobulin receptor-associated protein and structural comparison with the murine gene coding for the 44-kDa heparin-binding protein.
[electronic resource]
by
Van Leuven, F
Hilliker, C
Serneels, L
Umans, L
Overbergh, L
De Strooper, B
Fryns, J P
Van den Berghe, H
Producer:
19950721
In:
Genomics
vol. 25
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1012.
Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion.
[electronic resource]
by
Devriendt, K
Van Hoestenberghe, R
Van Hole, C
Devlieger, H
Gewillig, M
Moerman, P
Van den Berghe, H
Fryns, J P
Producer:
19970723
In:
Clinical genetics
vol. 51
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1013.
Clinical and molecular genetic features of congenital spinal muscular atrophy.
[electronic resource]
by
Devriendt, K
Lammens, M
Schollen, E
Van Hole, C
Dom, R
Devlieger, H
Cassiman, J J
Fryns, J P
Matthijs, G
Producer:
19970123
In:
Annals of neurology
vol. 40
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1014.
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
[electronic resource]
by
Debeer, Ph
Van Esch, H
Huysmans, C
Pijkels, E
De Smet, L
Van de Ven, W
Devriendt, K
Fryns, J-P
Producer:
20060228
In:
European journal of medical genetics
vol. 48
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1015.
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
[electronic resource]
by
Devriendt, K
Matthijs, G
Legius, E
Schollen, E
Blockmans, D
van Geet, C
Degreef, H
Cassiman, J J
Fryns, J P
Producer:
19970318
In:
American journal of human genetics
vol. 60
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1016.
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
[electronic resource]
by
Meloni, I
Bruttini, M
Longo, I
Mari, F
Rizzolio, F
D'Adamo, P
Denvriendt, K
Fryns, J P
Toniolo, D
Renieri, A
Producer:
20001031
In:
American journal of human genetics
vol. 67
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1017.
Oculocerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents.
[electronic resource]
by
Fryns, J P
Dereymaeker, A M
Heremans, G
Marien, J
van Hauwaert, J
Turner, G
Hockey, A
van den Berghe, H
Producer:
19890111
In:
Clinical genetics
vol. 34
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1018.
Genetic heterogeneity in Rieger eye malformation.
[electronic resource]
by
Legius, E
de Die-Smulders, C E
Verbraak, F
Habex, H
Decorte, R
Marynen, P
Fryns, J P
Cassiman, J J
Producer:
19940929
In:
Journal of medical genetics
vol. 31
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1019.
Longitudinal changes in cognitive and adaptive behavior in fragile X females: a prospective multicenter analysis.
[electronic resource]
by
Fisch, G S
Carpenter, N
Holden, J J
Howard-Peebles, P N
Maddalena, A
Borghgraef, M
Steyaert, J
Fryns, J P
Producer:
19990610
In:
American journal of medical genetics
vol. 83
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1020.
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.
[electronic resource]
by
Munroe, P B
Olgunturk, R O
Fryns, J P
Van Maldergem, L
Ziereisen, F
Yuksel, B
Gardiner, R M
Chung, E
Producer:
19990210
In:
Nature genetics
vol. 21
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