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E Seemanova

Showing results (11-20 of 29) with videos related to

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American Journal of Human Genetics|October 1, 1995
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1M Stumm, R A Gatti, A Reis, et al.
American Journal of Medical Genetics|June 28, 1996
Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotypeB E Ahlbom, P Goetz, J R Korenberg, et al.
American Journal of Human Genetics|August 1, 1989
Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304)N Dahl, P Goonewardena, H Malmgren, et al.
Human Molecular Genetics|July 1, 1994
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouseM Tassabehji, V E Newton, K Leverton, et al.
European Journal of Human Genetics : EJHG|November 28, 2000
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populationsR Varon, E Seemanova, K Chrzanowska, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brotherW J Kleijer, P Hu, R Thoomes, et al.
Molecular Syndromology|May 10, 2012
Hallermann-Streiff Syndrome: No Evidence for a Link to LaminopathiesF Kortüm, M Chyrek, S Fuchs, et al.
Biochemical and Biophysical Research Communications|May 29, 1997
Defects of insulin and IGF-1 action at receptor and postreceptor level in a patient with type A syndrome of insulin resistanceB Knebel, S Kellner, J Kotzka, et al.
American Journal of Human Genetics|September 1, 1996
Nonsyndromic cleft lip with or without cleft palate: erratumC Amos, J Stein, J B Mulliken, et al.
Diabetologia|November 1, 1993
An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndromeD Müller-Wieland, E R van der Vorm, R Streicher, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
American Journal of Human Genetics|October 1, 1995
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1M Stumm, R A Gatti, A Reis, et al.
American Journal of Medical Genetics|June 28, 1996
Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotypeB E Ahlbom, P Goetz, J R Korenberg, et al.
American Journal of Human Genetics|August 1, 1989
Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304)N Dahl, P Goonewardena, H Malmgren, et al.
Human Molecular Genetics|July 1, 1994
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouseM Tassabehji, V E Newton, K Leverton, et al.
European Journal of Human Genetics : EJHG|November 28, 2000
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populationsR Varon, E Seemanova, K Chrzanowska, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brotherW J Kleijer, P Hu, R Thoomes, et al.
Molecular Syndromology|May 10, 2012
Hallermann-Streiff Syndrome: No Evidence for a Link to LaminopathiesF Kortüm, M Chyrek, S Fuchs, et al.
Biochemical and Biophysical Research Communications|May 29, 1997
Defects of insulin and IGF-1 action at receptor and postreceptor level in a patient with type A syndrome of insulin resistanceB Knebel, S Kellner, J Kotzka, et al.
American Journal of Human Genetics|September 1, 1996
Nonsyndromic cleft lip with or without cleft palate: erratumC Amos, J Stein, J B Mulliken, et al.
Diabetologia|November 1, 1993
An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndromeD Müller-Wieland, E R van der Vorm, R Streicher, et al.
Pageof 3