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B Röthlisberger

Showing results (1-10 of 17) with videos related to

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Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|September 21, 2000
A new molecular approach to investigate origin and formation of structural chromosome aberrationsB Röthlisberger, A Schinzel, D Kotzot
Prenatal Diagnosis|December 11, 1999
Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placentaD Balmer, A Baumer, B Röthlisberger, et al.
Journal of Medical Genetics|January 5, 2002
Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qterD Kotzot, B Röthlisberger, M Riegel, et al.
American Journal of Medical Genetics|July 9, 1999
"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3)B Röthlisberger, D Kotzot, H E Gnehm, et al.
Therapeutische Umschau. Revue Therapeutique|February 3, 2006
[Hereditary enzyme defects of erythrocytes: glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency]I Ittig Boo Sedano, B Röthlisberger, A R Huber
Journal of Medical Genetics|February 9, 2000
A supernumerary marker chromosome originating from two different regions of chromosome 18B Röthlisberger, K Chrzanowska, D Balmer, et al.
Journal of Medical Genetics|February 24, 2001
Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girlL Brecevic, S Basaran, F Dutly, et al.
Clinics and Research in Hepatology and Gastroenterology|November 10, 2021
Sodium taurocholate co-transporting polypeptide deficiencyA L Schneider, H Köhler, B Röthlisberger, et al.
Therapeutische Umschau. Revue Therapeutique|March 17, 2004
[Genetic analysis and immunophenotyping in the diagnosis of hematological disease]M Hergersberg, B Röthlisberger, I A F M Heijnen, et al.
Journal of Medical Genetics|January 5, 2002
Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed childB Röthlisberger, T Zerova, D Kotzot, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|September 21, 2000
A new molecular approach to investigate origin and formation of structural chromosome aberrationsB Röthlisberger, A Schinzel, D Kotzot
Prenatal Diagnosis|December 11, 1999
Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placentaD Balmer, A Baumer, B Röthlisberger, et al.
Journal of Medical Genetics|January 5, 2002
Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qterD Kotzot, B Röthlisberger, M Riegel, et al.
American Journal of Medical Genetics|July 9, 1999
"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3)B Röthlisberger, D Kotzot, H E Gnehm, et al.
Therapeutische Umschau. Revue Therapeutique|February 3, 2006
[Hereditary enzyme defects of erythrocytes: glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency]I Ittig Boo Sedano, B Röthlisberger, A R Huber
Journal of Medical Genetics|February 9, 2000
A supernumerary marker chromosome originating from two different regions of chromosome 18B Röthlisberger, K Chrzanowska, D Balmer, et al.
Journal of Medical Genetics|February 24, 2001
Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girlL Brecevic, S Basaran, F Dutly, et al.
Clinics and Research in Hepatology and Gastroenterology|November 10, 2021
Sodium taurocholate co-transporting polypeptide deficiencyA L Schneider, H Köhler, B Röthlisberger, et al.
Therapeutische Umschau. Revue Therapeutique|March 17, 2004
[Genetic analysis and immunophenotyping in the diagnosis of hematological disease]M Hergersberg, B Röthlisberger, I A F M Heijnen, et al.
Journal of Medical Genetics|January 5, 2002
Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed childB Röthlisberger, T Zerova, D Kotzot, et al.
Pageof 2