Výsledky vyhledávání - Hermanns, Pia 

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  1. 1
    Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis

    Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis Autor Hermanns, Pia, Grasberger, Helmut, Refetoff, Samuel, Pohlenz, Joachim

    Vydáno 2011
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  2. 2
    A Single Copy of the Recently Identified Dual Oxidase Maturation Factor (DUOXA) 1 Gene Produces Only Mild Transient Hypothyroidism in a Patient with a Novel Biallelic DUOXA2 Mutation and Monoallelic DUOXA1 Deletion

    A Single Copy of the Recently Identified Dual Oxidase Maturation Factor (DUOXA) 1 Gene Produces Only Mild Transient Hypothyroidism in a Patient with a Novel Biallelic DUOXA2 Mutati... Autor Hulur, Imge, Hermanns, Pia, Nestoris, Claudia, Heger, Sabine, Refetoff, Samuel, Pohlenz, Joachim, Grasberger, Helmut

    Vydáno 2011
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  3. 3
    Two Cases of Thyroid Dysgenesis Caused by Different Novel PAX8 Mutations in the DNA-Binding Region: In Vitro Studies Reveal Different Pathogenic Mechanisms

    Two Cases of Thyroid Dysgenesis Caused by Different Novel PAX8 Mutations in the DNA-Binding Region: In Vitro Studies Reveal Different Pathogenic Mechanisms Autor Hermanns, Pia, Grasberger, Helmut, Cohen, Ronald, Freiberg, Clemens, Dörr, Helmuth-Günther, Refetoff, Samuel, Pohlenz, Joachim

    Vydáno 2013
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  4. 4
    A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies

    A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies Autor Hermanns, Pia, Refetoff, Samuel, Sriphrapradang, Chutintorn, Pohlenz, Joachim, Okamato, Jessica, Slyper, Leeyat, Slyper, Arnold H.

    Vydáno 2013
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  5. 5
    Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease

    Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease Autor Mattijssen, Sandy, Hinson, Ella R., Onnekink, Carla, Hermanns, Pia, Zabel, Bernhard, Cresswell, Peter, Pruijn, Ger J. M.

    Vydáno 2010
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  6. 6
    Brachy-syndactyly caused by loss of Sfrp2 function

    Brachy-syndactyly caused by loss of Sfrp2 function Autor Morello, Roy, Bertin, Terry K., Schlaubitz, Silke, Shaw, Chad A., Kakuru, Sujatha, Munivez, Elda, Hermanns, Pia, Chen, Yuqing, Zabel, Bernhard, Lee, Brendan

    Vydáno 2008
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  7. 7
    Determination of thyroid volume in infants with suspected congenital hypothyroidism—the limitations of both subjective and objective evaluation

    Determination of thyroid volume in infants with suspected congenital hypothyroidism—the limitations of both subjective and objective evaluation Autor Mansour, Chourouk, Ouarezki, Yasmine, Jones, Jeremy Huw, Green, Morag, Stenhouse, Emily Jane, Irwin, Greg, Hermanns, Pia, Pohlenz, Joachim, Donaldson, Malcolm David Cairns

    Vydáno 2020
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  8. 8
    Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

    Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis Autor Mari, Francesca, Hermanns, Pia, Giovannucci-Uzielli, Maria L, Galluzzi, Fiorella, Scott, Daryl, Lee, Brendan, Renieri, Alessandra, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea

    Vydáno 2009
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  9. 9
    TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

    TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome Autor Lausch, Ekkehart, Hermanns, Pia, Farin, Henner F., Alanay, Yasemin, Unger, Sheila, Nikkel, Sarah, Steinwender, Christoph, Scherer, Gerd, Spranger, Jürgen, Zabel, Bernhard, Kispert, Andreas, Superti-Furga, Andrea

    Vydáno 2008
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  10. 10
    A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

    A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations Autor Herzog, Andreas, Hartung, Ralf, Reuser, Arnold J J, Hermanns, Pia, Runz, Heiko, Karabul, Nesrin, Gökce, Seyfullah, Pohlenz, Joachim, Kampmann, Christoph, Lampe, Christina, Beck, Michael, Mengel, Eugen

    Vydáno 2012
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  11. 11
    Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

    Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis Autor Hermanns, Pia, Unger, Sheila, Rossi, Antonio, Perez-Aytes, Antonio, Cortina, Hector, Bonafé, Luisa, Boccone, Loredana, Setzu, Valeria, Dutoit, Michel, Sangiorgi, Luca, Pecora, Fabio, Reicherter, Kerstin, Nishimura, Gen, Spranger, Jürgen, Zabel, Bernhard, Superti-Furga, Andrea

    Vydáno 2008
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  12. 12
    Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

    Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis Autor Hermanns, Pia, Unger, Sheila, Rossi, Antonio, Perez-Aytes, Antonio, Cortina, Hector, Bonafé, Luisa, Boccone, Loredana, Setzu, Valeria, Dutoit, Michel, Sangiorgi, Luca, Pecora, Fabio, Reicherter, Kerstin, Nishimura, Gen, Spranger, Jürgen, Zabel, Bernhard, Superti-Furga, Andrea

    Vydáno 2008
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  13. 13
    Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS

    Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS Autor Mendoza-Londono, Roberto , Lammer, Edward , Watson, Rosemarie , Harper, John , Hatamochi, Atsushi , Hatamochi-Hayashi, Saori , Napierala, Dobrawa , Hermanns, Pia , Collins, Sinead , Roa, Benjamin B. , Hedge, Madhuri R. , Wakui, Keiko , Nguyen, Diep , Stockton, David W. , Lee, Brendan 

    Vydáno 2005
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