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Dermatology (Basel, Switzerland)
|
January 1, 1993
Fabry's disease: heterozygous form of different expression in two monozygous twin sisters
M C Marguery, F Giordano, M Parant, et al.
Clinical Genetics
|
November 15, 2017
FOXE3 mutations: genotype-phenotype correlations
J Plaisancié, N K Ragge, H Dollfus, et al.
European Journal of Medical Genetics
|
November 5, 2017
4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features
P Vande Perre, C Zazo Seco, O Patat, et al.
Immunogenetics
|
January 1, 1995
Structural analysis of the RH-like blood group gene products in nonhuman primates
I Salvignol, P Calvas, W W Socha, et al.
Cytogenetics and Cell Genetics
|
December 5, 1998
Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma
J M Rozet, S Gerber, I Perrault, et al.
Annales De Genetique
|
January 1, 1987
[Partial trisomy 13 due to t(X;13) translocation. Contribution of in situ hybridization]
G Bourrouillou, M G Mattei, P Calvas, et al.
American Journal of Human Genetics
|
May 23, 2000
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
A Herman-Bert, G Stevanin, J C Netter, et al.
Clinical Genetics
|
October 3, 2009
Novel B3GALTL mutation in Peters-plus Syndrome
J Dassie-Ajdid, A Causse, A Poidvin, et al.
Genomics
|
September 15, 1996
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)
J M Rozet, S Gerber, I Perrault, et al.
Clinical Genetics
|
March 19, 2010
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings
F Clauss, N Chassaing, A Smahi, et al.
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of 8
Search research articles
Search
Showing results (51-60 of 71) with videos related to
Sort By:
Page
of 8
Dermatology (Basel, Switzerland)
|
January 1, 1993
Fabry's disease: heterozygous form of different expression in two monozygous twin sisters
M C Marguery, F Giordano, M Parant, et al.
Clinical Genetics
|
November 15, 2017
FOXE3 mutations: genotype-phenotype correlations
J Plaisancié, N K Ragge, H Dollfus, et al.
European Journal of Medical Genetics
|
November 5, 2017
4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features
P Vande Perre, C Zazo Seco, O Patat, et al.
Immunogenetics
|
January 1, 1995
Structural analysis of the RH-like blood group gene products in nonhuman primates
I Salvignol, P Calvas, W W Socha, et al.
Cytogenetics and Cell Genetics
|
December 5, 1998
Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma
J M Rozet, S Gerber, I Perrault, et al.
Annales De Genetique
|
January 1, 1987
[Partial trisomy 13 due to t(X;13) translocation. Contribution of in situ hybridization]
G Bourrouillou, M G Mattei, P Calvas, et al.
American Journal of Human Genetics
|
May 23, 2000
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
A Herman-Bert, G Stevanin, J C Netter, et al.
Clinical Genetics
|
October 3, 2009
Novel B3GALTL mutation in Peters-plus Syndrome
J Dassie-Ajdid, A Causse, A Poidvin, et al.
Genomics
|
September 15, 1996
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)
J M Rozet, S Gerber, I Perrault, et al.
Clinical Genetics
|
March 19, 2010
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings
F Clauss, N Chassaing, A Smahi, et al.
Page
of 8