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Oliver Bartsch

Showing results (21-30 of 118) with videos related to

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The Journal of Pediatrics|July 31, 2016
Chest Radiograph as Diagnostic Clue in a Floppy InfantIsabella Schmeh, André Kidszun, Ekkehart Lausch, et al.
Pediatric Neurology|March 25, 2008
Girl with partial Turner syndrome and absence epilepsyHelen Puusepp, Riina Zordania, Mare Paal, et al.
American Journal of Medical Genetics. Part A|December 28, 2002
Two new cases of analphoid marker chromosomesMiriam Spiegel, Gabriele Hickmann, Gabriele Senger, et al.
Clinical Dysmorphology|February 22, 2019
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defectKinga Hadzsiev, Zsuzsanna Gyorsok, Agnes Till, et al.
Gene|May 18, 2004
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2Luciana Musante, Oliver Bartsch, Hans-Hilger Ropers, et al.
The Turkish Journal of Pediatrics|September 9, 2008
Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case reportSevim Balci, Mehmet Ali Ergün, E Berrin Yüksel-Konuk, et al.
European Journal of Human Genetics : EJHG|February 15, 2007
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndromeNicole Zimmermann, Ana Maria Bravo Ferrer Acosta, Jürgen Kohlhase, et al.
European Journal of Human Genetics : EJHG|August 4, 2005
Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studiesOliver Bartsch, Anne Loitzsch, Peter Kozlowski, et al.
Familial Cancer|September 18, 2014
Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndromeAnna Etzold, Julia C Schröder, Oliver Bartsch, et al.
American Journal of Medical Genetics. Part A|August 12, 2005
A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21Katrin Ounap, Tiiu Ilus, Piret Laidre, et al.
Pageof 12

Showing results (21-30 of 118) with videos related to

Sort By:
Pageof 12
The Journal of Pediatrics|July 31, 2016
Chest Radiograph as Diagnostic Clue in a Floppy InfantIsabella Schmeh, André Kidszun, Ekkehart Lausch, et al.
Pediatric Neurology|March 25, 2008
Girl with partial Turner syndrome and absence epilepsyHelen Puusepp, Riina Zordania, Mare Paal, et al.
American Journal of Medical Genetics. Part A|December 28, 2002
Two new cases of analphoid marker chromosomesMiriam Spiegel, Gabriele Hickmann, Gabriele Senger, et al.
Clinical Dysmorphology|February 22, 2019
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defectKinga Hadzsiev, Zsuzsanna Gyorsok, Agnes Till, et al.
Gene|May 18, 2004
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2Luciana Musante, Oliver Bartsch, Hans-Hilger Ropers, et al.
The Turkish Journal of Pediatrics|September 9, 2008
Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case reportSevim Balci, Mehmet Ali Ergün, E Berrin Yüksel-Konuk, et al.
European Journal of Human Genetics : EJHG|February 15, 2007
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndromeNicole Zimmermann, Ana Maria Bravo Ferrer Acosta, Jürgen Kohlhase, et al.
European Journal of Human Genetics : EJHG|August 4, 2005
Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studiesOliver Bartsch, Anne Loitzsch, Peter Kozlowski, et al.
Familial Cancer|September 18, 2014
Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndromeAnna Etzold, Julia C Schröder, Oliver Bartsch, et al.
American Journal of Medical Genetics. Part A|August 12, 2005
A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21Katrin Ounap, Tiiu Ilus, Piret Laidre, et al.
Pageof 12