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Zeitschrift Fur Kinder- Und Jugendpsychiatrie Und Psychotherapie
|
August 29, 2023
[Genetic Diagnostics in Everyday Clinical Practice in Child and Adolescent Psychiatry: Indications, Framework Conditions, Hurdles, and Proposed Solutions]
Franziska Degenhardt, Eva Wohlleber, Rami Abou Jamra, et al.
Molecular and Cellular Probes
|
May 25, 2015
Recurrent null mutation in SPG20 leads to Troyer syndrome
Hasan Tawamie, Eva Wohlleber, Steffen Uebe, et al.
European Journal of Medical Genetics
|
October 19, 2010
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation
Eva Wohlleber, Maria Kirchhoff, Alexander M Zink, et al.
Zeitschrift Fur Kinder- Und Jugendpsychiatrie Und Psychotherapie
|
November 19, 2025
Franziska Degenhardt, Eva Wohlleber, Ingo Spitczok von Brisinski, et al.
European Journal of Human Genetics : EJHG
|
May 28, 2009
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
Hartmut Engels, Eva Wohlleber, Alexander Zink, et al.
Human Mutation
|
June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
Markus Zweier, Anne Gregor, Christiane Zweier, et al.
American Journal of Medical Genetics. Part A
|
February 28, 2012
A phenotype map for 14q32.3 terminal deletions
Hartmut Engels, Herdit M Schüler, Alexander M Zink, et al.
American Journal of Human Genetics
|
March 13, 2012
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
Juliane Hoyer, Arif B Ekici, Sabine Endele, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2016
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
Nicola Dennert, Hartmut Engels, Kirsten Cremer, et al.
BMC Medical Genetics
|
August 11, 2011
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Anne Gregor, Beate Albrecht, Ingrid Bader, et al.
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Showing results (1-10 of 17) with videos related to
Sort By:
Page
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Zeitschrift Fur Kinder- Und Jugendpsychiatrie Und Psychotherapie
|
August 29, 2023
[Genetic Diagnostics in Everyday Clinical Practice in Child and Adolescent Psychiatry: Indications, Framework Conditions, Hurdles, and Proposed Solutions]
Franziska Degenhardt, Eva Wohlleber, Rami Abou Jamra, et al.
Molecular and Cellular Probes
|
May 25, 2015
Recurrent null mutation in SPG20 leads to Troyer syndrome
Hasan Tawamie, Eva Wohlleber, Steffen Uebe, et al.
European Journal of Medical Genetics
|
October 19, 2010
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation
Eva Wohlleber, Maria Kirchhoff, Alexander M Zink, et al.
Zeitschrift Fur Kinder- Und Jugendpsychiatrie Und Psychotherapie
|
November 19, 2025
Franziska Degenhardt, Eva Wohlleber, Ingo Spitczok von Brisinski, et al.
European Journal of Human Genetics : EJHG
|
May 28, 2009
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
Hartmut Engels, Eva Wohlleber, Alexander Zink, et al.
Human Mutation
|
June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
Markus Zweier, Anne Gregor, Christiane Zweier, et al.
American Journal of Medical Genetics. Part A
|
February 28, 2012
A phenotype map for 14q32.3 terminal deletions
Hartmut Engels, Herdit M Schüler, Alexander M Zink, et al.
American Journal of Human Genetics
|
March 13, 2012
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
Juliane Hoyer, Arif B Ekici, Sabine Endele, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2016
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
Nicola Dennert, Hartmut Engels, Kirsten Cremer, et al.
BMC Medical Genetics
|
August 11, 2011
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Anne Gregor, Beate Albrecht, Ingrid Bader, et al.
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of 2