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American Journal of Medical Genetics. Part A
|
March 29, 2014
Formation of a familial ring chromosome 18 investigated by SNP-array analysis
Sevim Balci, Johannes Zschocke, Dieter Kotzot, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2012
Microdeletion 19p13.2 in an almost 5-year-old boy
Edda Haberlandt, Ana Spreiz, Sara Baumgartner Sigl, et al.
Stem Cell Research
|
February 1, 2024
Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene
Sabrina Höpperger, Angeliki Spathopoulou, Lukas Mayer-Suess, et al.
American Journal of Medical Genetics. Part A
|
October 19, 2010
Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)
Ana Spreiz, Doris Müller, Sibylle Zotter, et al.
Fertility and Sterility
|
February 2, 2010
Parental origin and mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)/45,X karyotype in a woman with mild Turner syndrome
Franz Binkert, Ana Spreiz, Martina Höckner, et al.
European Journal of Human Genetics : EJHG
|
February 21, 2013
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation
Anne Frühmesser, Jonathon Blake, Edda Haberlandt, et al.
Annals of Human Genetics
|
May 22, 2012
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy
Birgit Krabichler, Kevin Rostasy, Matthias Baumann, et al.
The Journal of Pediatrics
|
July 24, 2013
Single-nucleotide polymorphism array-based characterization of ring chromosome 18
Ana Spreiz, Roberta S Guilherme, Claudio Castellan, et al.
Human Genetics
|
June 21, 2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
Joke Vandewalle, Marijke Bauters, Hilde Van Esch, et al.
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Search research articles
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Showing results (1-10 of 9) with videos related to
Sort By:
Page
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American Journal of Medical Genetics. Part A
|
March 29, 2014
Formation of a familial ring chromosome 18 investigated by SNP-array analysis
Sevim Balci, Johannes Zschocke, Dieter Kotzot, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2012
Microdeletion 19p13.2 in an almost 5-year-old boy
Edda Haberlandt, Ana Spreiz, Sara Baumgartner Sigl, et al.
Stem Cell Research
|
February 1, 2024
Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene
Sabrina Höpperger, Angeliki Spathopoulou, Lukas Mayer-Suess, et al.
American Journal of Medical Genetics. Part A
|
October 19, 2010
Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)
Ana Spreiz, Doris Müller, Sibylle Zotter, et al.
Fertility and Sterility
|
February 2, 2010
Parental origin and mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)/45,X karyotype in a woman with mild Turner syndrome
Franz Binkert, Ana Spreiz, Martina Höckner, et al.
European Journal of Human Genetics : EJHG
|
February 21, 2013
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation
Anne Frühmesser, Jonathon Blake, Edda Haberlandt, et al.
Annals of Human Genetics
|
May 22, 2012
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy
Birgit Krabichler, Kevin Rostasy, Matthias Baumann, et al.
The Journal of Pediatrics
|
July 24, 2013
Single-nucleotide polymorphism array-based characterization of ring chromosome 18
Ana Spreiz, Roberta S Guilherme, Claudio Castellan, et al.
Human Genetics
|
June 21, 2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
Joke Vandewalle, Marijke Bauters, Hilde Van Esch, et al.
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of 1