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Clinical Dysmorphology
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October 1, 1996
Cleft lip and cone-rod dystrophy in a consanguineous sibship
M G Ausems, D Wittebol-Post, R C Hennekam
Clinical Dysmorphology
|
January 1, 1994
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature
M G Ausems, P F Ippel, P A Renardel de Lavalette
Neuromuscular Disorders : NMD
|
September 21, 2000
Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families
M G Ausems, K ten Berg, F A Beemer, et al.
Neurology
|
November 28, 2001
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation
M G Ausems, J H Wokke, A J Reuser, et al.
Familial Cancer
|
September 22, 2018
Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
J J Bakhuizen, M E Velthuizen, S Stehouwer, et al.
Neurology
|
November 30, 2000
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy
M Schuelke, B Finckh, E A Sistermans, et al.
Clinical Dysmorphology
|
April 1, 1995
Desbuquois syndrome: three further cases and review of the literature
G Gillessen-Kaesbach, P Meinecke, M G Ausems, et al.
American Journal of Medical Genetics
|
November 15, 1994
18q- and 18q+ mosaicism in a mentally retarded boy
M G Ausems, S L Bhola, C A Post-Blok, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1996
Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development
M G Ausems, H G Van Spijker, H J Dijkhuis, et al.
Journal of Medical Genetics
|
February 24, 2001
Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?
P A Terhal, M G Ausems, Y Van Bever, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 26) with videos related to
Sort By:
Page
of 3
Clinical Dysmorphology
|
October 1, 1996
Cleft lip and cone-rod dystrophy in a consanguineous sibship
M G Ausems, D Wittebol-Post, R C Hennekam
Clinical Dysmorphology
|
January 1, 1994
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature
M G Ausems, P F Ippel, P A Renardel de Lavalette
Neuromuscular Disorders : NMD
|
September 21, 2000
Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families
M G Ausems, K ten Berg, F A Beemer, et al.
Neurology
|
November 28, 2001
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation
M G Ausems, J H Wokke, A J Reuser, et al.
Familial Cancer
|
September 22, 2018
Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
J J Bakhuizen, M E Velthuizen, S Stehouwer, et al.
Neurology
|
November 30, 2000
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy
M Schuelke, B Finckh, E A Sistermans, et al.
Clinical Dysmorphology
|
April 1, 1995
Desbuquois syndrome: three further cases and review of the literature
G Gillessen-Kaesbach, P Meinecke, M G Ausems, et al.
American Journal of Medical Genetics
|
November 15, 1994
18q- and 18q+ mosaicism in a mentally retarded boy
M G Ausems, S L Bhola, C A Post-Blok, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1996
Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development
M G Ausems, H G Van Spijker, H J Dijkhuis, et al.
Journal of Medical Genetics
|
February 24, 2001
Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?
P A Terhal, M G Ausems, Y Van Bever, et al.
Page
of 3