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Joachim Pohlenz

Showing results (1-10 of 49) with videos related to

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European Journal of Endocrinology|March 27, 2003
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophyJoachim Pohlenz, Wiebke Ahrens, Olaf Hiort
Thyroid : Official Journal of the American Thyroid Association|June 4, 2020
A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital HypothyroidismPia Hermanns, Charlotte Claßen, Joachim Pohlenz
The Journal of Clinical Endocrinology and Metabolism|April 1, 2011
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesisPia Hermanns, Helmut Grasberger, Samuel Refetoff, et al.
Acta Paediatrica (Oslo, Norway : 1992)|November 30, 2006
Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R)Joachim Pohlenz, Nicole Pfarr, Silvia Krüger, et al.
Developmental Medicine and Child Neurology|November 21, 2008
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutationOliver Fuchs, Nicole Pfarr, Joachim Pohlenz, et al.
American Journal of Obstetrics and Gynecology|September 10, 2005
Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-upKirsten Börgel, Joachim Pohlenz, Wolfgang Holzgreve, et al.
Thyroid : Official Journal of the American Thyroid Association|January 27, 2005
Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor geneAnnette Richter-Unruh, Berthold P Hauffa, Nicole Pfarr, et al.
Journal of Molecular Medicine (Berlin, Germany)|May 22, 2002
A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattleCord Drögemüller, Martin Peters, Joachim Pohlenz, et al.
Hormone Research|November 2, 2005
Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val)Kirsten Börgel, Joachim Pohlenz, Hans G Koch, et al.
The Journal of Clinical Endocrinology and Metabolism|June 6, 2003
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutationGuntram Borck, Christian Roth, Ursula Martiné, et al.
Pageof 5

Showing results (1-10 of 49) with videos related to

Sort By:
Pageof 5
European Journal of Endocrinology|March 27, 2003
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophyJoachim Pohlenz, Wiebke Ahrens, Olaf Hiort
Thyroid : Official Journal of the American Thyroid Association|June 4, 2020
A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital HypothyroidismPia Hermanns, Charlotte Claßen, Joachim Pohlenz
The Journal of Clinical Endocrinology and Metabolism|April 1, 2011
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesisPia Hermanns, Helmut Grasberger, Samuel Refetoff, et al.
Acta Paediatrica (Oslo, Norway : 1992)|November 30, 2006
Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R)Joachim Pohlenz, Nicole Pfarr, Silvia Krüger, et al.
Developmental Medicine and Child Neurology|November 21, 2008
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutationOliver Fuchs, Nicole Pfarr, Joachim Pohlenz, et al.
American Journal of Obstetrics and Gynecology|September 10, 2005
Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-upKirsten Börgel, Joachim Pohlenz, Wolfgang Holzgreve, et al.
Thyroid : Official Journal of the American Thyroid Association|January 27, 2005
Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor geneAnnette Richter-Unruh, Berthold P Hauffa, Nicole Pfarr, et al.
Journal of Molecular Medicine (Berlin, Germany)|May 22, 2002
A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattleCord Drögemüller, Martin Peters, Joachim Pohlenz, et al.
Hormone Research|November 2, 2005
Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val)Kirsten Börgel, Joachim Pohlenz, Hans G Koch, et al.
The Journal of Clinical Endocrinology and Metabolism|June 6, 2003
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutationGuntram Borck, Christian Roth, Ursula Martiné, et al.
Pageof 5