Iskani rezultati za avtorja

1

Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips.

Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips.

od Fryns, J P
Izdano 1989

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2

Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.

Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.

od Fryns, J P
Izdano 1987

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3

Another holoprosencephaly locus at 7q21.2?

Another holoprosencephaly locus at 7q21.2?

od Fryns, J P
Izdano 1998

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4

Congenital scalp defects with distal limb reduction anomalies.

Congenital scalp defects with distal limb reduction anomalies.

od Fryns, J P
Izdano 1987

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5

Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family.

Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family.

od Fryns, J P
Izdano 1995

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6

Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?

Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?

od Fryns, J P
Izdano 1995

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7

Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

od Soekarman, D, Fryns, J P
Izdano 1993

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8

Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

od Fryns, J P, Moerman, P
Izdano 1993

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9

"Cataplexy" in Coffin-Lowry syndrome.

"Cataplexy" in Coffin-Lowry syndrome.

od Fryns, J P, Smeets, E
Izdano 1998

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10

Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.

Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.

od Fryns, J P, Moerman, P
Izdano 1988

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11

Holoprosencephaly and postaxial polydactyly: another observation.

Holoprosencephaly and postaxial polydactyly: another observation.

od Moerman, P, Fryns, J P
Izdano 1988

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12

Mucosal neuromata syndrome (MEN type IIb (III)).

Mucosal neuromata syndrome (MEN type IIb (III)).

od Fryns, J P, Chrzanowska, K
Izdano 1988

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13

Expression of fragile site at 10q25 in normal culture conditions.

Expression of fragile site at 10q25 in normal culture conditions.

od Petit, P, Fryns, J P
Izdano 1983

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14

Cowden syndrome.

Cowden syndrome.

od Hanssen, A M, Fryns, J P
Izdano 1995

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15

Is the expression of fra(2)(q13) age dependent?

Is the expression of fra(2)(q13) age dependent?

od Fryns, J P, Van den Berghe, H
Izdano 1988

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16

Holoprosencephaly in deletions of proximal chromosome 14q.

Holoprosencephaly in deletions of proximal chromosome 14q.

od Devriendt, K, Fryns, J P, Chen, C P
Izdano 1998

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17

Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.

Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.

od Devriendt, K, D'Espallier, L, Fryns, J P
Izdano 1996

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18

Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum.

Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum.

od Fryns, J P, Chrzanowska, K, Van den Berghe, H
Izdano 1989

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19

Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

od Legius, E, Fryns, J P, Van den Berghe, H
Izdano 1989

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20

Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation.

Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation.

od Fryns, J P, Delooz, J, Van Den Berghe, H
Izdano 1992

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Polni tekst

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