Structural properties of sodium-rich carbonate-silicate melts: An in-situ high-pressure EXAFS study on Y and Sr
Pohlenz, J, Pascarelli, S, Mathon, O, Belin, S, Shiryaev, A, Safonov, O, Veligzhanin, A, Murzin, V, Irifune, T, Wilke, M
Published in Journal of physics. Conference series (01.05.2016)
Published in Journal of physics. Conference series (01.05.2016)
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Journal Article
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
Asmus, F, Horber, V, Pohlenz, J, Schwabe, D, Zimprich, A, Munz, M, Schöning, M, Gasser, T
Published in Neurology (14.06.2005)
Published in Neurology (14.06.2005)
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Journal Article
Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations
Altmann, K, Hermanns, P, Mühlenberg, R, Fricke-Otto, S, Wentzell, R, Pohlenz, J
Published in Experimental and clinical endocrinology & diabetes (01.06.2013)
Published in Experimental and clinical endocrinology & diabetes (01.06.2013)
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Journal Article
In situ characterization of liquid network structures at high pressure and temperature using X-ray absorption spectroscopy coupled with the Paris-Edinburgh press
Rosa, A. D., Pohlenz, J., de Grouchy, C., Cochain, B., Kono, Y., Pasternak, S., Mathon, O., Irifune, T., Wilke, M.
Published in High pressure research (02.07.2016)
Published in High pressure research (02.07.2016)
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Journal Article
1833 Acute Necrotizing Encephalopathy of Childhood Associated with Influenza A
Welk, A, Gehring, S, Pohlenz, J, Gawehn, J, Staatz, G, Huth, RG
Published in Archives of disease in childhood (01.10.2012)
Published in Archives of disease in childhood (01.10.2012)
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Journal Article
Clinical and metabolic findings in a 6-year-old boy with a Leydig cell tumour
Lignitz, S, Partsch, CJ, Wudy, SA, Hartmann, MF, Pohlenz, J
Published in Acta Paediatrica (01.12.2011)
Published in Acta Paediatrica (01.12.2011)
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Journal Article
Genotype-Phenotype Correlations in Pompe Disease
Herzog, A, Hartung, R, Mengel, E, Hermanns, P, Runz, H, Gökce, S, Pohlenz, J, Beck, M
Published in Clinical therapeutics (01.06.2011)
Published in Clinical therapeutics (01.06.2011)
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Journal Article
Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V)
Fricke-Otto, S, Pfarr, N, Mühlenberg, R, Pohlenz, J
Published in Experimental and clinical endocrinology & diabetes (01.12.2005)
Published in Experimental and clinical endocrinology & diabetes (01.12.2005)
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Journal Article
Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature
Partsch, C-J, Riepe, F G, Krone, N, Sippell, W G, Pohlenz, J
Published in Experimental and clinical endocrinology & diabetes (01.05.2006)
Published in Experimental and clinical endocrinology & diabetes (01.05.2006)
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Journal Article
Uptake of colostral leukocytes in the intestinal tract of newborn calves
Liebler-Tenorio, E.M, Riedel-Caspari, G, Pohlenz, J.F
Published in Veterinary immunology and immunopathology (01.02.2002)
Published in Veterinary immunology and immunopathology (01.02.2002)
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Journal Article
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site
Pohlenz, J, Rosenthal, I M, Weiss, R E, Jhiang, S M, Burant, C, Refetoff, S
Published in The Journal of clinical investigation (01.03.1998)
Published in The Journal of clinical investigation (01.03.1998)
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Journal Article
Congenital Hypothyroidism Caused by a Novel Homozygous Mutation in the Thyroid Peroxidase Gene
Fuchs, O., Pfarr, Ν., Pohlenz, J., Thanner, F., Schmidt, H.
Published in Journal of Pediatric Endocrinology and Metabolism (01.11.2008)
Published in Journal of Pediatric Endocrinology and Metabolism (01.11.2008)
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