MKRN3 Mutations in Familial Central Precocious Puberty
Schreiner, Felix, Gohlke, Bettina, Hamm, Michaela, Korsch, Eckhard, Woelfle, Joachim
Published in Hormone research in paediatrics (01.01.2014)
Published in Hormone research in paediatrics (01.01.2014)
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Journal Article
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia
Welters, Alena, Leiter, Sarah M, Bachmann, Nadine, Bergmann, Carsten, Hoermann, Henrike, Korsch, Eckhard, Meissner, Thomas, Payne, Felicity, Williams, Rachel, Hussain, Khalid, Semple, Robert K, Kummer, Sebastian
Published in Orphanet journal of rare diseases (16.11.2023)
Published in Orphanet journal of rare diseases (16.11.2023)
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Journal Article
A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy
Tol, Walinka, Ashikov, Angel, Korsch, Eckhard, Abu Bakar, Nurulamin, Willemsen, Michèl A., Thiel, Christian, Lefeber, Dirk J.
Published in JIMD reports (01.11.2019)
Published in JIMD reports (01.11.2019)
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Journal Article
Crazy bitch!“ – Erlebte Aggression und Gewalt im Klinikalltag von Kinderärzten
Dresen, Antje, Lee, Susan, Pfaff, Holger, Weiß, Michael, Korsch, Eckhard
Published in Monatsschrift Kinderheilkunde (16.10.2020)
Published in Monatsschrift Kinderheilkunde (16.10.2020)
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Journal Article
Skin conductance in neonates suffering from abstinence syndrome and unexposed newborns
Schubach, Nicola Elisabeth, Mehler, Katrin, Roth, Bernhard, Korsch, Eckhard, Laux, Rainhard, Singer, Dominique, von der Wense, Axel, Treszl, András, Hünseler, Christoph
Published in European journal of pediatrics (01.06.2016)
Published in European journal of pediatrics (01.06.2016)
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Journal Article
Crazy bitch!“ – Erlebte Aggression und Gewalt im Klinikalltag von Kinderärzten
Dresen, Antje, Lee, Susan, Pfaff, Holger, Weiß, Michael, Korsch, Eckhard
Published in Monatsschrift Kinderheilkunde (01.04.2023)
Published in Monatsschrift Kinderheilkunde (01.04.2023)
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Journal Article
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
MORAVA, Eva, ZEEVAERT, Renate, KORSCH, Eckhard, HUIJBEN, Karin, WOPEREIS, Suzan, MATTHIJS, Gert, KEYMOLEN, Kathelijn, LEFEBER, Dirk J, DE MEIRLEIR, Linda, WEVERS, Ron A
Published in European journal of human genetics : EJHG (01.06.2007)
Published in European journal of human genetics : EJHG (01.06.2007)
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Journal Article
Four Novel Mutations of the LHX3 Gene Cause Combined Pituitary Hormone Deficiencies with or without Limited Neck Rotation
Pfaeffle, Roland W., Savage, Jesse J., Hunter, Chad S., Palme, Christina, Ahlmann, Martina, Kumar, Prasanna, Bellone, Jaele, Schoenau, Eckhard, Korsch, Eckhard, Brämswig, Jürgen H., Stobbe, Heike M., Blum, Werner F., Rhodes, Simon J.
Published in The journal of clinical endocrinology and metabolism (01.05.2007)
Published in The journal of clinical endocrinology and metabolism (01.05.2007)
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Journal Article
Perinatal and early infantile symptoms in congenital disorders of glycosylation
Funke, Simone, Gardeitchik, Thatjana, Kouwenberg, Dorus, Mohamed, Miski, Wortmann, Saskia B., Korsch, Eckhard, Adamowicz, Maciej, Al‐Gazali, Lihadh, Wevers, Ron A., Horvath, Adrienne, Lefeber, Dirk J., Morava, Éva
Published in American journal of medical genetics. Part A (01.03.2013)
Published in American journal of medical genetics. Part A (01.03.2013)
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Journal Article
Neonatal Screening: Identification of Children with 11β-Hydroxylase Deficiency by Second-Tier Testing
Janzen, Nils, Riepe, Felix G., Peter, Michael, Sander, Stefanie, Steuerwald, Ulrike, Korsch, Eckhard, Krull, Friedrich, Müller, Hermann L., Heger, Sabine, Brack, Christoph, Sander, Johannes
Published in Hormone research in paediatrics (01.01.2012)
Published in Hormone research in paediatrics (01.01.2012)
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Journal Article
Enterovirus-associated supraventricular re-entry tachycardia and hepatitis: a benign course in a 3-month-old female
Schmidt, Beate, Korsch, Eckhard, Schildgen, Oliver, Schildgen, Verena, Brockmann, Michael, Weiß, Michael
Published in JMM Case Reports (Online) (01.08.2015)
Published in JMM Case Reports (Online) (01.08.2015)
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Journal Article
Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578-584
Funke, Simone, Gardeitchik, Thatjana, Kouwenberg, Dorus, Mohamed, Miski, Wortmann, Saskia, Korsch, Eckhard, Adamovicz, Maciej, Al-Gazali, Lihadh, Wevers, Ron A., Horvath, Adrien, Lefeber, Dirk J., Morava, Eva
Published in American journal of medical genetics. Part A (01.06.2014)
Published in American journal of medical genetics. Part A (01.06.2014)
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Journal Article
Neonatal Screening: Identification of Children with 11[beta]-Hydroxylase Deficiency by Second-Tier Testing
Janzen, Nils, Riepe, Felix G, Peter, Michael, Sander, Stefanie, Steuerwald, Ulrike, Korsch, Eckhard, Krull, Friedrich, Müller, Hermann L, Heger, Sabine, Brack, Christoph, Sander, Johannes
Published in Hormone research in paediatrics (01.05.2012)
Published in Hormone research in paediatrics (01.05.2012)
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Journal Article
Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene
Krone, Nils, Riepe, Felix G., Götze, Dorothea, Korsch, Eckhard, Rister, Manfred, Commentz, Jens, Partsch, Carl-Joachim, Grötzinger, Joachim, Peter, Michael, Sippell, Wolfgang G.
Published in The journal of clinical endocrinology and metabolism (01.06.2005)
Published in The journal of clinical endocrinology and metabolism (01.06.2005)
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Journal Article