Resultados de búsqueda - Hermanns, Pia 

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

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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... por Hulur, Imge, Hermanns, Pia, Nestoris, Claudia, Heger, Sabine, Refetoff, Samuel, Pohlenz, Joachim, Grasberger, Helmut

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

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

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

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

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

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

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TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome por 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

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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 por 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

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Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis por 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

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Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis por 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

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

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