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Peter Meinecke

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

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Nature Genetics|January 11, 2011
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunityEkkehart Lausch, Andreas Janecke, Matthias Bros, et al.
Nature|December 22, 2006
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axisLaura J Niedernhofer, George A Garinis, Anja Raams, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutationsJoyce So, Vanessa Suckow, Zofia Kijas, et al.
Journal of Medical Genetics|June 26, 2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker, Denise Horn, Dagmar Wieczorek, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
Pageof 4

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

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 40 results.
Nature Genetics|January 11, 2011
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunityEkkehart Lausch, Andreas Janecke, Matthias Bros, et al.
Nature|December 22, 2006
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axisLaura J Niedernhofer, George A Garinis, Anja Raams, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutationsJoyce So, Vanessa Suckow, Zofia Kijas, et al.
Journal of Medical Genetics|June 26, 2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker, Denise Horn, Dagmar Wieczorek, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
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