Search Results - Kohlhase, Jürgen
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1
New mutation leading to the full variety of typical features of the Netherton syndrome by Kogut, Marta (Author) , Zielonka, Mareen (Author) , Hadaschik, Eva (Author) , Kohlhase, Jürgen (Author) , Hartmann, Martin (Author) ,
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2
Child neurology: PRRT2-associated movement disorders and differential diagnoses by Ebrahimi-Fakhari, Darius (Author) , Kang, Keun-Sun (Author) , Kotzaeridou, Urania (Author) , Kohlhase, Jürgen (Author) , Klein, Christine (Author) , Assmann, Birgit (Author) ,
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3
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity by Pigors, Manuela (Author) , Kiritsi, Dimitra (Author) , Krümpelmann, Sebastian (Author) , Wagner, Nicola (Author) , He, Yinghong (Author) , Podda, Maurizio (Author) , Kohlhase, Jürgen (Author) , Haußer-Siller, Ingrid (Author) , Bruckner-Tuderman, Leena (Author) , Has, Cristina (Author) ,
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes by Endele, Sabine (Author) , Rosenberger, Georg (Author) , Geider, Kirsten (Author) , Popp, Bernt (Author) , Tamer, Ceyhun (Author) , Stefanova, Irina (Author) , Milh, Mathieu (Author) , Kortüm, Fanny (Author) , Fritsch, Angela (Author) , Pientka, Friederike K. (Author) , Hellenbroich, Yorck (Author) , Kalscheuer, Vera M. (Author) , Kohlhase, Jürgen (Author) , Moog, Ute (Author) , Rappold, Gudrun (Author) , Rauch, Anita (Author) , Ropers, Hans-Hilger (Author) , von Spiczak, Sarah (Author) , Tönnies, Holger (Author) , Villeneuve, Nathalie (Author) , Villard, Laurent (Author) , Zabel, Bernhard (Author) , Zenker, Martin (Author) , Laube, Bodo (Author) , Reis, André (Author) , Wieczorek, Dagmar (Author) , Van Maldergem, Lionel (Author) , Kutsche, Kerstin (Author) ,
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5
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Other Authors: “…Kohlhase, Jürgen…”
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Related Subjects
Female
Humans
Adolescent
Animals
Base Sequence
Chorea
Codon, Nonsense
Diagnosis, Differential
Dystonia
Epidermolysis Bullosa
Fatal Outcome
Gene regulation
Genetic variation
Infant, Newborn
Membrane Proteins
Mice
Molecular Sequence Data
Mutation
Nerve Tissue Proteins
Neurological disorders
Skin
gamma Catenin