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Clinical Genetics
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April 16, 2003
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile
H Y Kroes, G Pals, A J van Essen
Clinical and Experimental Dermatology
|
November 18, 2003
Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders
M F Jonkman, M Castellanos Nuijts, A J van Essen
American Journal of Medical Genetics. Part A
|
May 12, 2005
Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis
P Rump, M P A Zeegers, A J van Essen
Journal of Medical Genetics
|
December 1, 1991
Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy
J H Begeer, F A Scholte, A J van Essen
American Journal of Medical Genetics
|
February 1, 1992
Comparison of couples referred and not referred for genetic counseling in a genetic clinic after the birth of a child with a congenital anomaly: a study in a population in the northeastern Netherlands
M C Cornel, A J van Essen, L P ten Kate
Genetic Counseling (Geneva, Switzerland)
|
May 3, 2001
Phenotypic variability of Cat-Eye syndrome
M J Berends, G Tan-Sindhunata, B Leegte, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1996
Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance
R Hordijk, F Van de Logt, W A Houtman, et al.
Pediatric Pathology
|
March 1, 1994
Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: three new cases and review of the literature
B H Sombekke, W M Molenaar, A J van Essen, et al.
Genetic Counseling (Geneva, Switzerland)
|
March 23, 2007
Mosaic isodicentric chromosome 18q: sixth report and review
G G Oudesluijs, C V Hulzebos, B Sikkema-Raddatz, et al.
American Journal of Medical Genetics
|
March 29, 1996
Cerebro-costo-mandibular syndrome
F B Plötz, A J van Essen, A N Bosschaart, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 52) with videos related to
Sort By:
Page
of 6
Clinical Genetics
|
April 16, 2003
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile
H Y Kroes, G Pals, A J van Essen
Clinical and Experimental Dermatology
|
November 18, 2003
Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders
M F Jonkman, M Castellanos Nuijts, A J van Essen
American Journal of Medical Genetics. Part A
|
May 12, 2005
Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis
P Rump, M P A Zeegers, A J van Essen
Journal of Medical Genetics
|
December 1, 1991
Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy
J H Begeer, F A Scholte, A J van Essen
American Journal of Medical Genetics
|
February 1, 1992
Comparison of couples referred and not referred for genetic counseling in a genetic clinic after the birth of a child with a congenital anomaly: a study in a population in the northeastern Netherlands
M C Cornel, A J van Essen, L P ten Kate
Genetic Counseling (Geneva, Switzerland)
|
May 3, 2001
Phenotypic variability of Cat-Eye syndrome
M J Berends, G Tan-Sindhunata, B Leegte, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1996
Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance
R Hordijk, F Van de Logt, W A Houtman, et al.
Pediatric Pathology
|
March 1, 1994
Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: three new cases and review of the literature
B H Sombekke, W M Molenaar, A J van Essen, et al.
Genetic Counseling (Geneva, Switzerland)
|
March 23, 2007
Mosaic isodicentric chromosome 18q: sixth report and review
G G Oudesluijs, C V Hulzebos, B Sikkema-Raddatz, et al.
American Journal of Medical Genetics
|
March 29, 1996
Cerebro-costo-mandibular syndrome
F B Plötz, A J van Essen, A N Bosschaart, et al.
Page
of 6