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Pediatric Research
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October 17, 1998
Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets
C Van Geet, K Devriendt, B Eyskens, et al.
Journal of Medical Genetics
|
May 1, 1997
Chromosome 22q11 deletion presenting as the Potter sequence
K Devriendt, P Moerman, D Van Schoubroeck, et al.
Journal of Medical Genetics
|
May 23, 1998
Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy
J P Fryns, C Van Lingen, K Devriendt, et al.
Prenatal Diagnosis
|
May 23, 2000
Diaphragmatic hernia as the first echographic sign in Apert syndrome
I Witters, K Devriendt, P Moerman, et al.
Annales De Genetique
|
August 28, 2001
Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations
S G Frints, J Fryns, L Lagae, et al.
European Journal of Human Genetics : EJHG
|
September 26, 2001
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma
M Genuardi, M Klutz, K Devriendt, et al.
European Journal of Pediatrics
|
February 1, 1996
Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?
K Devriendt, L Dooms, W Proesmans, et al.
Annales De Genetique
|
May 26, 1998
Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation
P Petit, K Devriendt, J R Vermeesch, et al.
Genetic Counseling (Geneva, Switzerland)
|
May 25, 2006
Unilateral symbrachydactyly of the foot
I B Mathijssen, V Cossey, J P Fryns, et al.
American Journal of Medical Genetics. Part A
|
July 21, 2004
A novel MSX1 mutation in hypodontia
S De Muynck, E Schollen, G Matthijs, et al.
Page
of 23
Search research articles
Search
Showing results (81-90 of 230) with videos related to
Sort By:
Page
of 23
Pediatric Research
|
October 17, 1998
Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets
C Van Geet, K Devriendt, B Eyskens, et al.
Journal of Medical Genetics
|
May 1, 1997
Chromosome 22q11 deletion presenting as the Potter sequence
K Devriendt, P Moerman, D Van Schoubroeck, et al.
Journal of Medical Genetics
|
May 23, 1998
Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy
J P Fryns, C Van Lingen, K Devriendt, et al.
Prenatal Diagnosis
|
May 23, 2000
Diaphragmatic hernia as the first echographic sign in Apert syndrome
I Witters, K Devriendt, P Moerman, et al.
Annales De Genetique
|
August 28, 2001
Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations
S G Frints, J Fryns, L Lagae, et al.
European Journal of Human Genetics : EJHG
|
September 26, 2001
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma
M Genuardi, M Klutz, K Devriendt, et al.
European Journal of Pediatrics
|
February 1, 1996
Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?
K Devriendt, L Dooms, W Proesmans, et al.
Annales De Genetique
|
May 26, 1998
Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation
P Petit, K Devriendt, J R Vermeesch, et al.
Genetic Counseling (Geneva, Switzerland)
|
May 25, 2006
Unilateral symbrachydactyly of the foot
I B Mathijssen, V Cossey, J P Fryns, et al.
American Journal of Medical Genetics. Part A
|
July 21, 2004
A novel MSX1 mutation in hypodontia
S De Muynck, E Schollen, G Matthijs, et al.
Page
of 23