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Veröffentlichungsdatum
Anzahl der Publikationen: 33
2023
Maier, Esther M. 
ORCID: https://orcid.org/0000-0002-4954-4901; Mütze, Ulrike; Janzen, Nils; Steuerwald, Ulrike; Nennstiel, Uta; Odenwald, Birgit; Schuhmann, Elfriede; Lotz‐Havla, Amelie S.; Weiss, Katharina J.; Hammersen, Johanna; Weigel, Corina; Thimm, Eva; Grünert, Sarah C.; Hennermann, Julia B.; Freisinger, Peter; Krämer, Johannes; Das, Anibh M.; Illsinger, Sabine; Gramer, Gwendolyn; Fang‐Hoffmann, Junmin; Garbade, Sven F.; Okun, Jürgen G.; Hoffmann, Georg F.; Kölker, Stefan und Röschinger, Wulf
(2023):
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
In: Journal of Inherited Metabolic Disease, Bd. 46, Nr. 6: S. 1043-1062
[PDF, 2MB]
ORCID: https://orcid.org/0000-0002-4954-4901; Mütze, Ulrike; Janzen, Nils; Steuerwald, Ulrike; Nennstiel, Uta; Odenwald, Birgit; Schuhmann, Elfriede; Lotz‐Havla, Amelie S.; Weiss, Katharina J.; Hammersen, Johanna; Weigel, Corina; Thimm, Eva; Grünert, Sarah C.; Hennermann, Julia B.; Freisinger, Peter; Krämer, Johannes; Das, Anibh M.; Illsinger, Sabine; Gramer, Gwendolyn; Fang‐Hoffmann, Junmin; Garbade, Sven F.; Okun, Jürgen G.; Hoffmann, Georg F.; Kölker, Stefan und Röschinger, Wulf
(2023):
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
In: Journal of Inherited Metabolic Disease, Bd. 46, Nr. 6: S. 1043-1062
[PDF, 2MB]
Weiß, Katharina J.; Berger, Ursula ORCID: https://orcid.org/0000-0002-9809-4177; Haider, Maliha; Wagner, Matias; Märtner, E. M. Charlotte; Regenauer‐Vandewiele, Stephanie; Lotz‐Havla, Amelie; Schuhmann, Elfriede; Röschinger, Wulf und Maier, Esther M.
(2023):
Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation.
In: Clinical Genetics, Bd. 103, Nr. 6: S. 644-654
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-9809-4177; Haider, Maliha; Wagner, Matias; Märtner, E. M. Charlotte; Regenauer‐Vandewiele, Stephanie; Lotz‐Havla, Amelie; Schuhmann, Elfriede; Röschinger, Wulf und Maier, Esther M.
(2023):
Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation.
In: Clinical Genetics, Bd. 103, Nr. 6: S. 644-654
[PDF, 1MB]
2022
Lotz-Havla, Amelie S.; Katzdobler, Sabrina; Nuscher, Brigitte; Weiß, Katharina; Levin, Johannes; Havla, Joachim und Maier, Esther M.
(29. September 2022):
Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria.
In: Frontiers in Neurology, Bd. 13
[PDF, 1MB]
Gruenert, Sarah C.; Derks, Terry G. J.; Adrian, Katarina; Al-Thihli, Khalid; Ballhausen, Diana; Bidiuk, Joanna; Bordugo, Andrea; Boyer, Monica; Bratkovic, Drago; Brunner-Krainz, Michaela; Burlina, Alberto; Chakrapani, Anupam; Corpeleijn, Willemijn; Cozens, Alison; Dawson, Charlotte; Dhamko, Helena; Milosevic, Maja Djordjevic; Eiroa, Hernan; Finezilber, Yael; Moura de Souza, Carolina Fischinger; Concepcion Garcia-Jimenez, Maria; Gasperini, Serena; Haas, Dorothea; Haeberle, Johannes; Halligan, Rebecca; Fung, Law Hiu; Hoerbe-Blindt, Alexandra; Horka, Laura Maria; Huemer, Martina; Ucar, Sema Kalkan; Kecman, Bozica; Kilavuz, Sebile; Krivan, Gergely; Lindner, Martin; Luesebrink, Natalia; Makrilakis, Konstantinos; Kwok, Anne Mei-Kwun; Maier, Esther M.; Maiorana, Arianna; McCandless, Shawn E.; Mitchell, John James; Mizumoto, Hiroshi; Mundy, Helen; Ochoa, Carlos; Pierce, Kathryn; Quijada Fraile, Pilar; Regier, Debra; Rossi, Alessandro; Santer, Rene; Schuman, Hester C.; Sobieraj, Piotr; Spenger, Johannes; Spiegel, Ronen; Stepien, Karolina M.; Tal, Galit; Tansek, Mojca Zerjav; Torkar, Ana Drole; Tchan, Michel; Thyagu, Santhosh; Vergano, Samantha A. Schrier; Vucko, Erika; Weinhold, Natalie; Zsidegh, Petra und Wortmann, Saskia B.
(2022):
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
In: Genetics in Medicine, Bd. 24, Nr. 8: S. 1781-1788
Boy, Nikolas; Muehlhausen, Chris; Maier, Esther M.; Ballhausen, Diana; Baumgartner, Matthias R.; Beblo, Skadi; Burgard, Peter; Chapman, Kimberly A.; Dobbelaere, Dries; Heringer-Seifert, Jana; Fleissner, Sandra; Grohmann-Held, Karina; Hahn, Gabriele; Harting, Inga; Hoffmann, Georg F.; Jochum, Frank; Karall, Daniela; Konstantopoulous, Vassiliki; Krawinkel, Michael B.; Lindner, Martin; Maertner, E. M. Charlotte; Nuoffer, Jean-Marc; Okun, Jürgen G.; Plecko, Barbara; Posset, Roland; Sahm, Katja; Scholl-Buergi, Sabine; Thimm, Eva; Walter, Magdalena; Williams, Monique; Vom Dahl, Stephan; Ziagaki, Athanasia; Zschocke, Johannes und Koelker, Stefan
(2022):
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
In: Journal of Inherited Metabolic Disease, Bd. 46, Nr. 3: S. 482-519
Grohmann-Held, Karina; Burgard, Peter; Baerwald, Christoph G. O.; Beblo, Skadi; Vom Dahl, Stephan; Das, Anibh; Dokoupil, Katharina; Fleissner, Sandra; Freisinger, Peter; Heddrich-Ellerbrok, Margret; Jung, Alexandra; Korpel, Vanessa; Kraemer, Johannes; Lier, Dinah; Maier, Esther M.; Meyer, Uta; Muehlhausen, Chris; Newger, Martha; Och, Ulrike; Ploeckinger, Ursula; Rosenbaum-Fabian, Stefanie; Rutsch, Frank; Santer, Rene; Schick, Petra; Schwarz, Martin; Spiekerkoetter, Ute; Strittmatter, Ursula; Thiele, Alena G.; Ziagaki, Athanasia; Muetze, Ulrike; Gleich, Florian; Garbade, Sven F. und Koelker, Stefan
(2022):
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
In: Journal of Inherited Metabolic Disease, Bd. 45, Nr. 6: S. 1070-1081
2021
Lotz-Havla, Amelie S.; Weiß, Katharina; Schiergens, Katharina; Regenauer-Vandewiele, Stephanie; Parhofer, Klaus G.; Christmann, Tara; Böhm, Luise; Havla, Joachim und Maier, Esther M.
(10. Dezember 2021):
Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.
In: Frontiers in Neurology, Bd. 12, 780624
[PDF, 8MB]
Muetze, Ulrike; Henze, Lucy; Gleich, Florian; Lindner, Martin; Gruenert, Sarah C.; Spiekerkoetter, Ute; Santer, Rene; Blessing, Holger; Thimm, Eva; Ensenauer, Regina; Weigel, Johannes; Beblo, Skadi; Arelin, Maria; Hennermann, Julia B.; Marquardt, Thorsten; Marquardt, Iris; Freisinger, Peter; Kraemer, Johannes; Dieckmann, Andrea; Weinhold, Natalie; Keller, Mareike; Walter, Magdalena; Schiergens, Katharina A.; Maier, Esther M.; Hoffmann, Georg F.; Garbade, Sven F. und Koelker, Stefan
(2021):
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 4: S. 857-870
Lotz-Havla, Amelie S.; Weiß, Katharina J.; Schiergens, Katharina A.; Brunet, Theresa; Kohlhase, Jürgen; Regenauer-Vandewiele, Stephanie und Maier, Esther M.
(2021):
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
In: Orphanet journal of rare diseases, Bd. 16, Nr. 1, 215
[PDF, 1MB]
Lotz-Havla, Amelie S.; Weiß, Katharina J.; Schiergens, Katharina A.; Brunet, Theresa; Kohlhase, Jürgen; Regenauer-Vandewiele, Stephanie und Maier, Esther M.
(2021):
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 215
Maertner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Kraemer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Naeke, Andrea; Hoffmann, Georg F.; Muehlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Koelker, Stefan und Boy, Nikolas
(2021):
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
In: Scientific Reports, Bd. 11, Nr. 1, 19300
Mirza-Schreiber, Nazanin; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad
(2021):
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
In: Brain, Bd. 145, Nr. 2: S. 644-654
Schiergens, Katharina A.; Weiss, Katharina J.; Roeschinger, Wulf; Lotz-Havla, Amelie S.; Schmitt, Joachim; Dalla Pozza, Robert; Ulrich, Sarah; Odenwald, Birgit; Kreuder, Joachim und Maier, Esther M.
(2021):
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 1/2 years of experience.
In: Molecular Genetics and Metabolism Reports, Bd. 28, 100776
Spenger, Johannes; Maier, Esther M.; Wechselberger, Katharina; Bauder, Florian; Kocher, Melanie; Sperl, Wolfgang; Preisel, Martin; Schiergens, Katharina A.; Konstantopoulou, Vassiliki; Roeschinger, Wulf; Haberle, Johannes; Schmitt-Mechelke, Thomas; Wortmann, Saskia B. und Fingerhut, Ralph
(2021):
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
In: International Journal of Neonatal Screening, Bd. 7, Nr. 2, 32
2020
Weiss, Katharina; Lotz-Havla, Amelie; Dokoupil, Katharina und Maier, Esther M.
(2020):
Management of three preterm infants with phenylketonuria.
In: Nutrition, Bd. 71, 110619
Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas und i Dali, Christine
(2020):
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
In: Orphanet Journal of Rare Diseases, Bd. 15, Nr. 1, 328
Weiss, Katharina J.; Roeschinger, Wulf; Blessing, Holger; Lotz-Havla, Amelie S.; Schiergens, Katharina A. und Maier, Esther M.
(2020):
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
In: Annals of Nutrition and Metabolism, Bd. 76, Nr. 4: S. 268-276
Schneeberger, Pauline E.; Kortuem, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, Rene; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Alonso, Aroa Rodriguez; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Meuwissen, Marije E. C.; Beysen, Diane; Kooy, R. Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G.; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Gelb, Bruce D.; Kurth, Ingo; Hempel, Maja und Kutsche, Kerstin
(2020):
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
In: Brain, Bd. 143: S. 2437-2453
Maertner, E. M. Charlotte; Maier, Esther M.; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Santer, Rene; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer-Seifert, Jana; Lenz, Dominic; Hoffmann, Georg F.; Muehlhausen, Chris; Ensenauer, Regina; Garbade, Sven F.; Koelker, Stefan und Boy, Nikolas
(2020):
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 3: S. 629-638
Schiergens, Katharina A.; Weiß, Katharina J.; Dokoupil, Katharina; Fleissner, Sandra und Maier, Esther M.
(2020):
Ernährung bei angeborenen Stoffwechselerkrankungen — ein Spagat zwischen Genuss und Therapie.
In: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, Bd. 63, Nr. 7: S. 864-871
[PDF, 300kB]
Havla, Joachim; Moser, Marlene; Sztatecsny, Clara; Lotz-Havla, Amelie S.; Maier, Esther M.; Hizli, Baccara; Schinner, Regina; Kümpfel, Tania; Strupp, Michael; Bremova-Ertl, Tatiana und Schneider, Susanne A,
(2020):
Retinal axonal degeneration in Niemann–Pick type C disease.
In: Journal of Neurology, Bd. 267: S. 2070-2082
[PDF, 1MB]
2019
Murakami, Yoshiko; Thi Tuyet Mai, Nguyen; Baratang, Nissan; Raju, Praveen K.; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmüller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C.; Maier, Esther M.; Haack, Tobias B.; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A.; Liu, Pengfei; Joosten, Marieke; Rocha, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh und Campeau, Philippe M.
(2019):
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
In: American Journal of Human Genetics, Bd. 105, Nr. 2: S. 384-394
2018
Lotz-Havla, Amelie S.; Röschinger, Wulf; Schiergens, Katharina; Singer, Katharina; Karall, Daniela; Konstantopoulou, Vassiliki; Wortmann, Saskia B. und Maier, Esther M.
(2018):
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
In: Orphanet Journal of Rare Diseases
13:122
[PDF, 606kB]
Schiergens, Katharina A.; Staudigl, Michael; Borggraefe, Ingo und Maier, Esther M.
(2018):
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
In: Neuropediatrics, Bd. 49, Nr. 6: S. 363-368
Boy, Nikolas; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer, Jana; Hoffmann, Georg F.; Muehlhausen, Chris; Maier, Esther M.; Ensenauer, Regina; Garbade, Sven F. und Koelker, Stefan
(2018):
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
In: Annals of Neurology, Bd. 83, Nr. 5: S. 970-979
2017
Burgard, Peter; Ullrich, Kurt; Ballhausen, Diana; Hennermann, Julia B.; Hollak, Carla E. M.; Langeveld, Mirjam; Karall, Daniela; Konstantopoulou, Vassiliki; Maier, Esther M.; Lang, Frauke; Lachmann, Robin; Murphy, Elaine; Garbade, Sven; Hoffmann, Georg F.; Kölker, Stefan; Lindner, Martin und Zschocke, Johannes
(2017):
Issues with European guidelines for phenylketonuria.
In: Lancet Diabetes & Endocrinology, Bd. 5, Nr. 9: S. 681-683
Rujano, Maria A.; Serio, Magda Cannata; Panasyuk, Ganna; P, Romain Anne; Reunert, Janine; Rymen, Daisy; Hauser, Virginie; Park, Julien H.; Freisinger, Peter; Souche, Erika; Guida, Maria Clara; Maier, Esther M.; Wada, Yoshinao; Jager, Stefanie; Krogan, Nevan J.; Kretz, Oliver; Nobre, Susana; Garcia, Paula; Quelhas, Dulce; Bird, Thomas D.; Raskind, Wendy H.; Schwake, Michael; Duvet, Sandrine; Foulquier, Francois; Matthijs, Gert; Marquardt, Thorsten und Simons, Matias
(2017):
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
In: Journal of Experimental Medicine, Bd. 214, Nr. 12: S. 3707-3729
Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M.; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R.; Harting, Inga; Hoffmann, Georg F.; Karall, Daniela; Koeller, David M.; Krawinkel, Michael; Okun, Jürgen G.; Opladen, Thomas; Posset, Roland; Sahm, Katja; Zschocke, Johannes und Kolker, Stefan
(2017):
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
In: Journal of inherited metabolic disease, Bd. 40, Nr. 1: S. 75-101
2016
Zech, Michael; Boesch, Sylvia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Laccone, Franco; Pilshofer, Veronika; Ceballos-Baumann, Andres; Alhaddad, Bader; Berutti, Riccardo; Poewe, Werner; Haack, Tobias B.; Haslinger, Bernhard; Strom, Tim M. und Winkelmann, Juliane
(2016):
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
In: American Journal of Human Genetics, Bd. 99, Nr. 6: S. 1377-1387
2015
Koch, Johannes; Freisinger, Peter; Feichtinger, Rene G.; Zimmermann, Franz A.; Rauscher, Christian; Wagentristl, Hans P.; Konstantopoulou, Vassiliki; Seidl, Rainer; Haack, Tobias B.; Prokisch, Holger; Ahting, Uwe; Sperl, Wolfgang; Mayr, Johannes A. und Maier, Esther M.
(2015):
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
In: Orphanet Journal of Rare Diseases
10:40
[PDF, 2MB]
2014
Jank, Johanna M.; Maier, Esther M.; Reiss, Dunja D.; Haslbeck, Martin; Kemter, Kristina F.; Truger, Marietta S.; Sommerhoff, Christian P.; Ferdinandusse, Sacha; Wanders, Ronald J.; Gersting, Soren W. und Muntau, Ania C.
(2014):
The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase.
In: PLOS ONE 9(4), e93852 [PDF, 1MB]
In: PLOS ONE 9(4), e93852 [PDF, 1MB]
2013
Maier, Esther M.; Hege, Inga; Muntau, Ania C.; Huber, Johanna und Fischer, Martin R.
(2013):
What are effects of a spaced activation of virtual patients in a pediatric course?
In: BMC Medical Education
13:45
[PDF, 538kB]
2006
Huppke, P.; Maier, Esther M.; Warnke, A.; Brendel, C.; Laccone, F. und Gärtner, J.
(2006):
Very mild cases of Rett syndrome with skewed X inactivation.
In: Journal of Medical Genetics, Bd. 43: S. 814-816
[PDF, 281kB]