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Journal Article
Nature genetics, ISSN 1061-4036, 2008, Volume 40, Issue 9, pp. 1113 - 1118
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 3, pp. 550 - 560
Journal Article
by Namavar, Yasmin and Barth, Peter G and Kasher, Paul R and van Ruissen, Fred and Brockmann, Knut and Bernert, Günther and Writzl, Karin and Ventura, Karen and Cheng, Edith Y and Ferriero, Donna M and Basel-Vanagaite, Lina and Eggens, Veerle R. C and Krägeloh-Mann, Ingeborg and de Meirleir, Linda and King, Mary and Graham, John M and von Moers, Arpad and Knoers, Nine and Sztriha, Laszlo and Korinthenberg, Rudolf and Dobyns, William B and Baas, Frank and Poll-The, Bwee Tien and van der Aa, Nathalie and Arts, Willem F. M and Ades, Lesley C and Bahi-Buisson, Nadia and Battini, Roberta and Bodamer, Olaf and Boltshauser, Eugen and Boycott, Kym and Brueton, Louise and Brussel, Wim and Chandler, K. E and Cowan, Frances M and Crow, Yanick and Debus, Otfried and Demir, Ercan and Hastanesi, Gazi and Eason, Jacqueline and Ferrie, Colin D and Fisher, Richard B and Foulds, Nicola and Freeman, Jeremy L and Gooskens, Rob and Haeussler, Martin and Hageman, Gerard and Hammersen, Gerhard and Horn, Denise and Isidor, Bertrand and van der Knaap, Marjo S and Kress, Wolfram and Kroisel, Peter M and Kyllerman, Mårten and Lachmeijer, A. M. A and Lunsing, Roelineke J and McGillivray, George and Möllmann, Susanne and Muntoni, Francesco and Nemeth, Anea H and Neufeld-Kaiser, Whitney and van Nieuwenhuizen, Onno and Ouvrier, Robert and Pálmafy, Beatrix and Peeters, E. A. J and Phillips, Joanna J and Price, Susan and Rankin, Julia and Régal, Luc and de Rijk-van Andel, J. F and Roelens, Filip and Rutledge, Joe C and Ryan, Monique M and Seidl, Rainer and Sellerer, Nina C and Shannon, Nora L and Sival, Deborah A and Snoeck, I. N and Straussberg, Rachel and Tijssen, Marina A. J and Verloo, Patrick and de Vries, L. S and Wargowski, David and Williams, Anew N and Windpassinger, Christian and PCH Consortium and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Brain, ISSN 0006-8950, 2011, Volume 134, Issue Part 1, pp. 143 - 156
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 3, pp. 433 - 440
Journal Article
by Streng, Andrea and Prifert, Christiane and Weissbrich, Benedikt and Liese, Johannes G and Bösel, Nadja and Gašpirová, Petra and Henrich, Katharina and Hösl, Angela and Klein, Maximilian and Schnelke, Alexander and Wieg, Christian and Steinherr, Harry and Schreiner, Hans-Georg and Horsinka, Sibylle and Wolf, Alfons and Engelke, Engelke and Pohl, Wolfgang and Bohlein, Barbara and Egler, Kerstin and Glas, Katharina and Iven, Annegret and Leistner, Christiane and Lippert, Lena and Kothari, Radhika and Panagiota, Chaitidou and Rettner, Daniela and Thomaschewski, S and Weigelt, Annika and Wenzel, Beatrix and Zapf, Florian and Stuber, Gerlinde and Schroth, Michael and Topf, Hans-Georg and Steigenberger, Herbert and Maksutova, Maksutova and Ponader, Rolf and Götz, Oliver and Eberhardt, Heinrich and Quitterer, Andrea and Aleo, Angelo and Bischof, A and Brenner, B and Brunnhölzl, Wolfgang and Doll, Ulrike and Hagemann, Sonja and Pauker, S and Pfadler, Eva and Schmidt, Ann-Kathrin and Schuler, Rahel and Stange, T and Steidl, Michael and Hoffmann, Florian and Behrends, Uta and Berndt, J and Damke, Lilian and Demir, Iffet and Dreßel, Petra and Gallitz, Stephanie and Heck, Bambul and Jünger, Hendrik and Mahmoud, Mahmoud and Sassen, Uwe and Wagner, Claudia and Hammersen, Gerhard and Göhl, Nathalie and Jansen, Verena and Schmidtlein, Christoph and Munser, Stefan and Schmidt, D and Adolphs, Christian and Keinath, Susanne and Ritz, Christina and Röding, Stefanie and Schweiß, Isabel and Trips, Tobias and Adam, Klaus and Baumann, Anja and Moser, Andrea and Sperber, K and Thomas, Wolfgang and Wirbelauer, Johannes and Kunzmann, Steffen and Doerck, Manfred and Kitz, Christa and Borgmann, Kristina and Grombach, Jens and Bavarian PICU Study Grp Influenza and Bavarian PICU Study Group on Influenza and Other Viral ARI and for the Bavarian PICU Study Group on Influenza and Other Viral ARI
BMC Infectious Diseases, ISSN 1471-2334, 12/2015, Volume 15, Issue 1, p. 573
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2007, Volume 80, Issue 3, p. 550
We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for... 
Genotype & phenotype | Genes | Mutation
Journal Article
Acta Pædiatrica, ISSN 0803-5253, 02/2008, Volume 97, Issue 2, pp. 187 - 192
Aim: Although varicella is acknowledged as a rare cause of death in children, there are few comprehensive data with respect to the clinical course leading to... 
Lymphocytic | Congenital varicella | Epidemiology | Leukemia | Mortality | Chickenpox/Complications | UNITED-STATES | leukemia | chickenpox/complications | ZOSTER-VIRUS | epidemiology | congenital varicella | lymphocytic | mortality | SURVEILLANCE | WALES | PEDIATRICS | INFECTION | ENGLAND | CHICKENPOX | Chickenpox - mortality | Humans | Adolescent | Child, Preschool | Female | Infant | Male | Chickenpox - complications | Child | Germany - epidemiology
Journal Article
Acta Pædiatrica, ISSN 0803-5253, 02/2008, Volume 97, Issue 2, pp. 187 - 192
Aim: Although varicella is acknowledged as a rare cause of death in children, there are few comprehensive data with respect to the clinical course leading to... 
Lymphocytic | Leukemia | Mortality | Chickenpox/Complications | Congenital varicella | Epidemiology
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2008, Volume 40, Issue 9, pp. 1113 - 1118
Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the... 
Journal Article
Pediatrics (Evanston), ISSN 0031-4005, 1997, Volume 99, Issue 4, pp. 567 - 574
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 1978, Volume 92, Issue 6, pp. 871 - 877
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 1980, Volume 96, Issue 4, pp. 778 - 778
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 1977, Volume 77, Issue 3, pp. 295 - 299
Starch gel electrophoresis of galactose-1-phosphate uridylyl transferase has been adapted for use on dried filter paper blood specimens submitted for the... 
Electrophoresis, Starch Gel | Galactosemias - diagnosis | Clinical Enzyme Tests - methods | Filtration | UTP-Hexose-1-Phosphate Uridylyltransferase - blood | Fetal Blood - enzymology | Nucleotidyltransferases - blood | Carrier State - enzymology | Humans | Infant, Newborn
Journal Article
Pediatric Research, ISSN 0031-3998, 04/1974, Volume 8, Issue 4, pp. 389 - 389
Journal Article