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Human Mutation
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August 10, 2004
The human FOXL2 mutation database
Diane Beysen, Jo Vandesompele, Ludwine Messiaen, et al.
Clinical Chemistry
|
April 12, 2008
Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms
Kim De Leeneer, Ilse Coene, Bruce Poppe, et al.
European Journal of Dermatology : EJD
|
January 15, 2004
Cutis laxa of the autosomal recessive type in a consanguineous family
Sofie de Schepper, Bart Loeys, Anne de Paepe, et al.
Human Mutation
|
December 8, 2004
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients
Fransiska Malfait, Paul Coucke, Sofie Symoens, et al.
Human Mutation
|
April 5, 2002
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
Gábor Mátyás, Anne De Paepe, Dorothy Halliday, et al.
American Journal of Medical Genetics
|
March 29, 2002
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion
Stefan Vermeulen, Ludwine Messiaen, Petra Scheir, et al.
Cancer Genetics and Cytogenetics
|
September 15, 2005
HOXA gene cluster rearrangement in a t(7;9)(p15;q34) in a child with MDS
Bruce Poppe, Nurten Yigit, Barbara De Moerloose, et al.
Community Genetics
|
February 5, 2005
Marfan syndrome in Europe
Sylvia De Bie, Anne De Paepe, Isabelle Delvaux, et al.
European Journal of Pediatrics
|
October 31, 2003
Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature
Nicole Revencu, Geneviève Quenum, Thierry Detaille, et al.
Disease Markers
|
October 28, 2015
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family
Delfien Syx, Sofie Symoens, Wouter Steyaert, et al.
Page
of 24
Search research articles
Search
Showing results (31-40 of 236) with videos related to
Sort By:
Page
of 24
Human Mutation
|
August 10, 2004
The human FOXL2 mutation database
Diane Beysen, Jo Vandesompele, Ludwine Messiaen, et al.
Clinical Chemistry
|
April 12, 2008
Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms
Kim De Leeneer, Ilse Coene, Bruce Poppe, et al.
European Journal of Dermatology : EJD
|
January 15, 2004
Cutis laxa of the autosomal recessive type in a consanguineous family
Sofie de Schepper, Bart Loeys, Anne de Paepe, et al.
Human Mutation
|
December 8, 2004
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients
Fransiska Malfait, Paul Coucke, Sofie Symoens, et al.
Human Mutation
|
April 5, 2002
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
Gábor Mátyás, Anne De Paepe, Dorothy Halliday, et al.
American Journal of Medical Genetics
|
March 29, 2002
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion
Stefan Vermeulen, Ludwine Messiaen, Petra Scheir, et al.
Cancer Genetics and Cytogenetics
|
September 15, 2005
HOXA gene cluster rearrangement in a t(7;9)(p15;q34) in a child with MDS
Bruce Poppe, Nurten Yigit, Barbara De Moerloose, et al.
Community Genetics
|
February 5, 2005
Marfan syndrome in Europe
Sylvia De Bie, Anne De Paepe, Isabelle Delvaux, et al.
European Journal of Pediatrics
|
October 31, 2003
Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature
Nicole Revencu, Geneviève Quenum, Thierry Detaille, et al.
Disease Markers
|
October 28, 2015
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family
Delfien Syx, Sofie Symoens, Wouter Steyaert, et al.
Page
of 24