Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Michel Morlot"'
Autor:
Brigitte Schlegelberger, Susanne Morlot, Tim Ripperger, Uta Diebold, Brigitte Pabst, Michel Morlot, Gunnar Schmidt, Doris Steinemann, Bernd Auber, Monika M. Golas
Publikováno v:
American Journal of Medical Genetics Part A.
The PTEN hamartoma tumor syndrome (PHTS) is caused by heterozygous germline variants in PTEN. Here, we report two unrelated patients with juvenile polyposis, macrocephaly, intellectual disability, and hyperpigmented skin macules. Both patients were c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5129dcd67816e4f725c38434ca635cbb
https://doi.org/10.1002/ajmg.a.61166
https://doi.org/10.1002/ajmg.a.61166
Autor:
Michel Morlot, Gerhard Binder, Hans-Peter Schwarz, Ralf Werner, Christine Marschke, Olaf Hiort, Dagmar Struve, Paul-Martin Holterhus
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 91:3515-3520
Background: Sufficient androgen receptor (AR) activity is crucial for normal male sexual differentiation. Here we report on two unrelated 46, XY patients suffering from undervirilization and genital malformations. Both patients had a short polyglycin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc211dbb6677e410da72e30fd772a1e9
https://doi.org/10.1210/jc.2006-0372
https://doi.org/10.1210/jc.2006-0372
Autor:
Michael Ludwig, Michel Morlot, Wolfgang G. Sippell, Felix G. Riepe, Carl-Joachim Partsch, Nils Krone
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 88:1683-1686
Pseudohypoaldosteronism (PHA) type 1 presents in infancy with potential life-threatening salt wasting and failure to thrive. Plasma renin activity and aldosterone levels are markedly elevated. PHA1 is inherited in either an autosomal recessive or aut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ced00abe5ca9d7a0923e2b845e6e4e
https://doi.org/10.1210/jc.2002-021556
https://doi.org/10.1210/jc.2002-021556
Publikováno v:
Journal européen d’hydrologie. 33:41-52
Les constituants des materiaux au contact des eaux de consommation humaine peuvent migrer dans l'eau et alterer ses proprietes organoleptiques, physico-chimiques et microbiologiques. Des essais prealables doivent permettre de verifier leur inertie; c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68dd4f67931c79d541fb98e4b481afd1
https://doi.org/10.1051/water/20023301041
https://doi.org/10.1051/water/20023301041
Autor:
Roy E. Weiss, Jun Xie, Samuel Refetoff, Joachim Pohlenz, C Asteria, Silvana Pannain, Luca Persani, Michel Morlot, Jasmine Parma, Gilbert Vassart, Paolo Beck-Peccoz, Kathleen C. Moltz
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 82:3933-3940
Resistance to TSH (RTSH) is a recently described syndrome of reduced sensitivity to TSH that manifests as euthyroid hyperthyrotropinemia. It is usually identified at birth during routine neonatal screening for congenital hypothyroidism. In less than
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0970e32c4ba7d076fb6dfbc15ffac024
https://doi.org/10.1210/jcem.82.12.4418
https://doi.org/10.1210/jcem.82.12.4418
Autor:
Nils Krone, Felix G. Riepe, Carl-Joachim Partsch, Michael Peter, Michel Morlot, Wolfgang G. Sippell
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 89:2150-2152
Pseudohypoaldosteronism type 1 (PHA1) is a rare congenital disease inherited in either an autosomal-recessive or an autosomal-dominant trait. The autosomal-dominant form manifests with renal salt loss in infancy and a gradual improvement with advanci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a61358755e5ebd6a802c245ebecf8c
https://doi.org/10.1210/jc.2003-031555
https://doi.org/10.1210/jc.2003-031555
Publikováno v:
Journal européen d’hydrologie. 26:211-225
Une etude de conservation d'eau du reseau aseptisee en sachets pmlastiques souples a ete effectuee pendant un an a differentes temperatures. Apres extraction liquide-liquide par le dichloromethane, les composes organiques en solution ont ete identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b744ab3dc0975ad4d44eee0eb21cbdf
https://doi.org/10.1051/water/19952602211
https://doi.org/10.1051/water/19952602211
Autor:
Dagmar Wieczorek, Elke Hobbiebrunken, Birte Tröger, Almuth Caliebe, Peter Meinecke, Sabine Lüttgen, Andreas Gal, Berthold Streubel, Hanno J. Bolz, Peter Freisinger, M Stefanova, Zsuzsanna Almassy, Michel Morlot, Kerstin Kutsche
Publikováno v:
American Journal of Medical Genetics Part A. :82-84
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3cfc05599a35e519df4f67a981f192c
https://doi.org/10.1002/ajmg.a.20122
https://doi.org/10.1002/ajmg.a.20122
Publikováno v:
Journal français d’hydrologie. 22:211-224
Cette etude, consacree a l'extraction des micropolluants organiques de l'eau, comprend deux parties : la premiere realisee en laboratoire a permis, sur des "eaux pures" surchargees en micropolluants organiques varies (amines, phenols, pesticides, PCB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5baef5f32a984008a90b1932faf4a2f7
https://doi.org/10.1051/water/19912202211
https://doi.org/10.1051/water/19912202211
Autor:
Birte, Tröger, Kerstin, Kutsche, Hanno, Bolz, Sabine, Lüttgen, Andreas, Gal, Zsuzsanna, Almassy, Almuth, Caliebe, Peter, Freisinger, Elke, Hobbiebrunken, Michel, Morlot, Margarita, Stefanova, Berthold, Streubel, Dagmar, Wieczorek, Peter, Meinecke
Publikováno v:
American journal of medical genetics. Part A. (1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3526d88fb576304d67d44ef358ea292
https://pubmed.ncbi.nlm.nih.gov/12900909
https://pubmed.ncbi.nlm.nih.gov/12900909