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Malte Spielmann

Showing results (31-40 of 134) with videos related to

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Journal of Medical Genetics|February 4, 2019
<i>H2AFY</i> promoter deletion causes <i>PITX1</i> endoactivation and Liebenberg syndromeBjørt K Kragesteen, Francesco Brancati, Maria Cristina Digilio, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and reviewIbrahim Akalin, Senol Bozdag, Malte Spielmann, et al.
BMC Genomics|November 18, 2025
Comprehensive androgen-dependent transcriptome analysis in human genital tissueRadhika Sivaprasad, Kristian Händler, Almuth Caliebe, et al.
Investigative Ophthalmology & Visual Science|December 2, 2025
Missegregation of Chromosome 3 and Generation of Monosomy 3 in the Proliferating Uveal Melanoma Cells Under HyperglycemiaAysegül Tura, Svenja R Sonntag, Nikolas Christian Cornelius von Bubnoff, et al.
European Journal of Medical Genetics|May 21, 2011
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblingsMalte Spielmann, Gabriele Reichelt, Christoph Hertzberg, et al.
Molecular Syndromology|December 13, 2017
A Novel de novo <i>FZD2</i> Mutation in a Patient with Autosomal Dominant OmodysplasiaSeval Türkmen, Malte Spielmann, Nilay Güneş, et al.
Tissue Engineering. Part A|March 19, 2009
Minced skin for tissue engineering of epithelialized subcutaneous tunnelsMagdalena Fossum, Baraa Zuhaili, Tobias Hirsch, et al.
European Journal of Medical Genetics|June 23, 2015
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategiesRicarda Flöttmann, Alexej Knaus, Tomasz Zemojtel, et al.
European Journal of Medical Genetics|November 8, 2019
Split hand/foot malformation associated with 20p12.1 deletion: A case reportLyse Ruaud, Ricarda Flöttmann, Malte Spielmann, et al.
Journal of Human Genetics|September 9, 2016
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxaMohammed Al-Bughaili, Teresa M Neuhann, Ricarda Flöttmann, et al.
Pageof 14

Showing results (31-40 of 134) with videos related to

Sort By:
Pageof 14
Journal of Medical Genetics|February 4, 2019
<i>H2AFY</i> promoter deletion causes <i>PITX1</i> endoactivation and Liebenberg syndromeBjørt K Kragesteen, Francesco Brancati, Maria Cristina Digilio, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and reviewIbrahim Akalin, Senol Bozdag, Malte Spielmann, et al.
BMC Genomics|November 18, 2025
Comprehensive androgen-dependent transcriptome analysis in human genital tissueRadhika Sivaprasad, Kristian Händler, Almuth Caliebe, et al.
Investigative Ophthalmology & Visual Science|December 2, 2025
Missegregation of Chromosome 3 and Generation of Monosomy 3 in the Proliferating Uveal Melanoma Cells Under HyperglycemiaAysegül Tura, Svenja R Sonntag, Nikolas Christian Cornelius von Bubnoff, et al.
European Journal of Medical Genetics|May 21, 2011
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblingsMalte Spielmann, Gabriele Reichelt, Christoph Hertzberg, et al.
Molecular Syndromology|December 13, 2017
A Novel de novo <i>FZD2</i> Mutation in a Patient with Autosomal Dominant OmodysplasiaSeval Türkmen, Malte Spielmann, Nilay Güneş, et al.
Tissue Engineering. Part A|March 19, 2009
Minced skin for tissue engineering of epithelialized subcutaneous tunnelsMagdalena Fossum, Baraa Zuhaili, Tobias Hirsch, et al.
European Journal of Medical Genetics|June 23, 2015
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategiesRicarda Flöttmann, Alexej Knaus, Tomasz Zemojtel, et al.
European Journal of Medical Genetics|November 8, 2019
Split hand/foot malformation associated with 20p12.1 deletion: A case reportLyse Ruaud, Ricarda Flöttmann, Malte Spielmann, et al.
Journal of Human Genetics|September 9, 2016
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxaMohammed Al-Bughaili, Teresa M Neuhann, Ricarda Flöttmann, et al.
Pageof 14