Results
|
1041.
|
|
|
1042.
|
|
|
1043.
|
Wolf-Hirschhorn (4P-) syndrome in adults. [electronic resource] by
- Marcelis, C
- Schrander-Stumpel, C
- Engelen, J
- Schoonbrood-Lenssen, A
- Willemse, A
- Beemer, F
- Sigaudy, S
- Missirian, C
- Philip, N
- Fryns, J P
Producer: 20010726
In:
Genetic counseling (Geneva, Switzerland) vol. 12
Availability: No items available.
|
|
1044.
|
Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism. [electronic resource] by
- Knopf, C
- Rod, R
- Jaeken, J
- Berant, M
- Van Schaftingen, E
- Fryns, J P
- Brill-Zamir, R
- Gershoni-Baruch, R
- Lischinsky, S
- Mandel, H
Producer: 20001116
In:
Journal of inherited metabolic disease vol. 23
Availability: No items available.
|
|
1045.
|
|
|
1046.
|
|
|
1047.
|
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction. [electronic resource] by
- Grisart, B
- Willatt, L
- Destrée, A
- Fryns, J-P
- Rack, K
- de Ravel, T
- Rosenfeld, J
- Vermeesch, J R
- Verellen-Dumoulin, C
- Sandford, R
Producer: 20091102
In:
Journal of medical genetics vol. 46
Availability: No items available.
|
|
1048.
|
Clinical and molecular characterization of patients with distal 11q deletions. [electronic resource] by
- Penny, L A
- Dell'Aquila, M
- Jones, M C
- Bergoffen, J
- Cunniff, C
- Fryns, J P
- Grace, E
- Graham, J M
- Kousseff, B
- Mattina, T
Producer: 19950413
In:
American journal of human genetics vol. 56
Availability: No items available.
|
|
1049.
|
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation. [electronic resource] by
- Bienvenu, T
- Poirier, K
- Van Esch, H
- Hamel, B
- Moraine, C
- Fryns, J P
- Ropers, H H
- Beldjord, C
- Yntema, H G
- Chelly, J
Producer: 20030805
In:
Journal of medical genetics vol. 40
Availability: No items available.
|
|
1050.
|
Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families. [electronic resource] by
- Cuppens, H
- Legius, E
- Cabello, P
- Marynen, P
- De Boeck, C
- Decorte, R
- Fryns, J P
- Eggermont, E
- Van den Berghe, H
- Cassiman, J J
Producer: 19901121
In:
Human genetics vol. 85
Availability: No items available.
|
|
1051.
|
|
|
1052.
|
|
|
1053.
|
|
|
1054.
|
Cosegregation of T108A Elk-1 with mental retardation. [electronic resource] by
- Schröer, A
- Scheer, M P
- Zacharias, S
- Schneider, S
- Ropers, H H
- Nothwang, H G
- Chelly, J
- Hamel, B
- Fryns, J P
- Shaw, P
- Moraine, C
Producer: 20010222
In:
American journal of medical genetics vol. 95
Availability: No items available.
|
|
1055.
|
Personality profiles of youngsters with velo-cardio-facial syndrome. [electronic resource] by
- Prinzie, P
- Swillen, A
- Vogels, A
- Kockuyt, V
- Curfs, L
- Haselager, G
- Hellinckx, W
- Devriendt, K
- Onghena, P
- Van Lieshout, C F M
- Fryns, J P
Producer: 20030212
In:
Genetic counseling (Geneva, Switzerland) vol. 13
Availability: No items available.
|
|
1056.
|
Recurrent involvement of chromosomal region 6q21 in heterotaxy. [electronic resource] by
- Peeters, H
- Debeer, P
- Groenen, P
- Van Esch, H
- Vanderlinden, G
- Eyskens, B
- Mertens, L
- Gewillig, M
- Van de Ven, W
- Fryns, J P
- Devriendt, K
Producer: 20011004
In:
American journal of medical genetics vol. 103
Availability: No items available.
|
|
1057.
|
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. [electronic resource] by
- Debeer, Philippe
- Peeters, H
- Driess, S
- De Smet, L
- Freese, K
- Matthijs, G
- Bornholdt, D
- Devriendt, K
- Grzeschik, K-H
- Fryns, J-P
- Kalff-Suske, M
Producer: 20040210
In:
American journal of medical genetics. Part A vol. 120A
Availability: No items available.
|
|
1058.
|
|
|
1059.
|
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. [electronic resource] by
- Van Buggenhout, G
- Van Ravenswaaij-Arts, C
- Mc Maas, N
- Thoelen, R
- Vogels, A
- Smeets, Dominique
- Salden, I
- Matthijs, G
- Fryns, J-P
- Vermeesch, J R
Producer: 20051109
In:
European journal of medical genetics vol. 48
Availability: No items available.
|
|
1060.
|
Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23). [electronic resource] by
- Dimitrov, B
- Devriendt, K
- Maas, N M C
- Vermeesch, J R
- Zahariev, D
- Avdjieva, D
- Popova, A
- Popova, D A A
- Fryns, J P
- Simeonov, E
Producer: 20041014
In:
Genetic counseling (Geneva, Switzerland) vol. 15
Availability: No items available.
|