Search research articles
Contact Us
Filters
Showing results (1-10 of 11) with videos related to
Page
of 2
Sort By:
Nederlands Tijdschrift Voor Tandheelkunde
|
April 5, 2002
[Syndromes 16. Osteogenesis imperfecta]
A Vissink, M Hoff, I Stolte-Dijkstra, et al.
Journal of Medical Genetics
|
October 21, 1999
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
R Hordijk, H Wierenga, H Scheffer, et al.
American Journal of Medical Genetics
|
October 6, 1999
Perlman syndrome: four additional cases and review
H T Henneveld, R A van Lingen, B C Hamel, et al.
Prenatal Diagnosis
|
February 1, 1997
Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization
S L van Zelderen-Bhola, E J Breslau-Siderius, G C Beverstock, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall
R J Soorani-Lunsing, F J van Spronsen, I Stolte-Dijkstra, et al.
Journal of Medical Genetics
|
May 9, 2006
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene
R H Lekanne Deprez, J J Muurling-Vlietman, J Hruda, et al.
Human Genetics
|
December 1, 1995
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I
C C Verschuuren-Bemelmans, E R Brunt, M Burton, et al.
Journal of Medical Genetics
|
March 19, 2002
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
R M W Hofstra, P Elfferich, J Osinga, et al.
Human Mutation
|
February 6, 1998
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene
S Verhoef, R Vrtel, L Bakker, et al.
Journal of Medical Genetics
|
October 1, 1995
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation
B B de Vries, H Robinson, I Stolte-Dijkstra, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Nederlands Tijdschrift Voor Tandheelkunde
|
April 5, 2002
[Syndromes 16. Osteogenesis imperfecta]
A Vissink, M Hoff, I Stolte-Dijkstra, et al.
Journal of Medical Genetics
|
October 21, 1999
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
R Hordijk, H Wierenga, H Scheffer, et al.
American Journal of Medical Genetics
|
October 6, 1999
Perlman syndrome: four additional cases and review
H T Henneveld, R A van Lingen, B C Hamel, et al.
Prenatal Diagnosis
|
February 1, 1997
Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization
S L van Zelderen-Bhola, E J Breslau-Siderius, G C Beverstock, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall
R J Soorani-Lunsing, F J van Spronsen, I Stolte-Dijkstra, et al.
Journal of Medical Genetics
|
May 9, 2006
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene
R H Lekanne Deprez, J J Muurling-Vlietman, J Hruda, et al.
Human Genetics
|
December 1, 1995
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I
C C Verschuuren-Bemelmans, E R Brunt, M Burton, et al.
Journal of Medical Genetics
|
March 19, 2002
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
R M W Hofstra, P Elfferich, J Osinga, et al.
Human Mutation
|
February 6, 1998
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene
S Verhoef, R Vrtel, L Bakker, et al.
Journal of Medical Genetics
|
October 1, 1995
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation
B B de Vries, H Robinson, I Stolte-Dijkstra, et al.
Page
of 2