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Dunja Niedrist

Showing results (1-10 of 13) with videos related to

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European Journal of Human Genetics : EJHG|February 19, 2009
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformationDunja Niedrist, Iosif W Lurie, Albert Schinzel
Praxis|November 28, 2013
[Basic aspects of medical genetics]Sandra Pajarola, Ruxandra Bachmann, Dunja Niedrist, et al.
European Journal of Human Genetics : EJHG|July 10, 2014
An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidiesBernhard Steiner, Rahim Masood, Kaspar Rufibach, et al.
Journal of Medical Genetics|January 16, 2007
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, et al.
Molecular Syndromology|September 8, 2017
Low-Level Chromosomal Mosaicism in Neurodevelopmental DisordersBeatrice Oneda, Reza Asadollahi, Silvia Azzarello-Burri, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|July 4, 2020
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testingBeatrice Oneda, Pietro Sirleto, Rosa Baldinger, et al.
American Journal of Human Genetics|February 12, 2005
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseJeroen H Roelfsema, Stefan J White, Yavuz Ariyürek, et al.
American Journal of Medical Genetics. Part A|January 20, 2007
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathiesMarja Majava, Kristien P Hoornaert, Deborah Bartholdi, et al.
Prenatal Diagnosis|June 13, 2014
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic powerBeatrice Oneda, Rosa Baldinger, Regina Reissmann, et al.
Investigative Ophthalmology & Visual Science|August 2, 2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel MutationsChristina Gerth-Kahlert, Amit Tiwari, James V M Hanson, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
European Journal of Human Genetics : EJHG|February 19, 2009
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformationDunja Niedrist, Iosif W Lurie, Albert Schinzel
Praxis|November 28, 2013
[Basic aspects of medical genetics]Sandra Pajarola, Ruxandra Bachmann, Dunja Niedrist, et al.
European Journal of Human Genetics : EJHG|July 10, 2014
An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidiesBernhard Steiner, Rahim Masood, Kaspar Rufibach, et al.
Journal of Medical Genetics|January 16, 2007
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, et al.
Molecular Syndromology|September 8, 2017
Low-Level Chromosomal Mosaicism in Neurodevelopmental DisordersBeatrice Oneda, Reza Asadollahi, Silvia Azzarello-Burri, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|July 4, 2020
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testingBeatrice Oneda, Pietro Sirleto, Rosa Baldinger, et al.
American Journal of Human Genetics|February 12, 2005
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseJeroen H Roelfsema, Stefan J White, Yavuz Ariyürek, et al.
American Journal of Medical Genetics. Part A|January 20, 2007
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathiesMarja Majava, Kristien P Hoornaert, Deborah Bartholdi, et al.
Prenatal Diagnosis|June 13, 2014
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic powerBeatrice Oneda, Rosa Baldinger, Regina Reissmann, et al.
Investigative Ophthalmology & Visual Science|August 2, 2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel MutationsChristina Gerth-Kahlert, Amit Tiwari, James V M Hanson, et al.
Pageof 2