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Pediatric brain MRI in neurofibromatosis type I.
Published in:
2005
By:
- Mentzel, Hans-J.;
- Seidel, Jörg;
- Fitzek, Clemens;
- Eichhorn, Annegret;
- Vogt, Susanna;
- Reichenbach, Jürgen R.;
- Zintl, Felix;
- Kaiser, Werner A.;
- Seidel, Jörg;
- Reichenbach, Jürgen R
Publication type:
journal article
A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.
Published in:
2003
By:
- Seidel, Jörg;
- Heller, Anita;
- Senger, Gabriele;
- Starke, Heike;
- Chudoba, Ilse;
- Kelbova, Christina;
- Tönnies, Holger;
- Neitzel, Heidemarie;
- Haase, Claudia;
- Beensen, Volkmar;
- Zintl, Felix;
- Claussen, Uwe;
- Liehr, Thomas;
- Seidel, Jörg;
- Tönnies, Holger
Publication type:
journal article
Radiological aspects of the Poland syndrome and implications for treatment: a case study and review.
Published in:
European Journal of Pediatrics, 2002, v. 161, n. 8, p. 455, doi. 10.1007/s00431-002-0974-0
By:
- Mentzel, Hans-Joachim;
- Seidel, Jörg;
- Sauner, Dieter;
- Vogt, Susanna;
- Fitzek, Clemens;
- Zintl, Felix;
- Kaiser, Werner A.
Publication type:
Article
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Published in:
2001
By:
- Dudesek, Ales;
- Röschinger, Wulf;
- Muntau, Ania C.;
- Seidel, Jörg;
- Leupold, Dorothea;
- Thöny, Beat;
- Blau, Nenad;
- Dudesek, A;
- Röschinger, W;
- Muntau, A C;
- Seidel, J;
- Leupold, D;
- Thöny, B;
- Blau, N
Publication type:
journal article
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
Published in:
Human Genetics, 2003, v. 114, n. 1, p. 51, doi. 10.1007/s00439-003-1016-3
By:
- Starke, Heike;
- Nietzel, Angela;
- Weise, Anja;
- Heller, Anita;
- Mrasek, Kristin;
- Belitz, Britta;
- Kelbova, Christine;
- Volleth, Marianne;
- Albrecht, Beate;
- Mitulla, Beate;
- Trappe, Ralf;
- Bartels, Iris;
- Adolph, Sabine;
- Dufke, Andreas;
- Singer, Sylke;
- Stumm, Markus;
- Wegner, Rolf-Dieter;
- Seidel, Jörg;
- Schmidt, Angela;
- Kuechler, Alma
Publication type:
Article
Next-generation sequencing in X-linked intellectual disability.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1513, doi. 10.1038/ejhg.2015.5
By:
- Tzschach, Andreas;
- Grasshoff, Ute;
- Beck-Woedl, Stefanie;
- Dufke, Claudia;
- Bauer, Claudia;
- Kehrer, Martin;
- Evers, Christina;
- Moog, Ute;
- Oehl-Jaschkowitz, Barbara;
- Di Donato, Nataliya;
- Maiwald, Robert;
- Jung, Christine;
- Kuechler, Alma;
- Schulz, Solveig;
- Meinecke, Peter;
- Spranger, Stephanie;
- Kohlhase, Jürgen;
- Seidel, Jörg;
- Reif, Silke;
- Rieger, Manuela
Publication type:
Article
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 12, p. 790, doi. 10.1038/sj.ejhg.5200889
By:
- Starke, Heike;
- Seidel, Jörg;
- Henn, Wolfram;
- Reichardt, Sylvia;
- Volleth, Marianne;
- Stumm, Markus;
- Behrend, Christine;
- Sandig, Klaus R;
- Kelbova, Christine;
- Senger, Gabriele;
- Albrecht, Beate;
- Hansmann, Ingo;
- Heller, Anita;
- Claussen, Uwe;
- Liehr, Thomas
Publication type:
Article
Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 1, p. 54, doi. 10.1038/sj.ejhg.5200402
By:
- Schiller, Simone;
- Spranger, Stephanie;
- Schechinger, Birgit;
- Fukami, Maki;
- Merker, Sabine;
- Drop, Stenvert LS;
- Tröger, Jochen;
- Knoblauch, Hans;
- Kunze, Jürgen;
- Seidel, Jörg;
- Rappold, Gudrun A
Publication type:
Article
Insulin-like Growth Factor Serum Concentrations Reflect Insufficient Growth in a Hypoplastic Infant with Partial Trisomy 9q in the 12<sup>th</sup> Week of Life.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2000, v. 13, n. 4, p. 445
By:
- Hübler, Axel;
- Seidel, Jörg;
- Kauf, Eberhard;
- Schramm, Dirk;
- Beensen, Volkmar;
- Heller, Anita;
- Liehr, Thomas;
- Zintl, Felix
Publication type:
Article
How good is the match between the plane of the text and the plane of focus during reading?
Published in:
Ophthalmic & Physiological Optics, 1999, v. 19, n. 2, p. 180, doi. 10.1046/j.1475-1313.1999.00430.x
By:
- Schaeffel, Frank;
- Weiss, Stefan;
- Seidel, Jörg
Publication type:
Article
Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter.
Published in:
Prenatal Diagnosis, 2003, v. 23, n. 5, p. 427, doi. 10.1002/pd.595
By:
- Vladimir Trifonov;
- Jörg Seidel;
- Heike Starke;
- Prechtel Martina;
- Volkmar Beensen;
- Monika Ziegler;
- Isabell Hartmann;
- Anita Heller;
- Angela Nietzel;
- Uwe Claussen;
- Thomas Liehr
Publication type:
Article
Brachydactyly type A2 associated with a defect in proGDF5 processing.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 9, p. 1222, doi. 10.1093/hmg/ddn012
By:
- Plöger, Frank;
- Seemann, Petra;
- Schmidt-von Kegler, Mareen;
- Lehmann, Katarina;
- Seidel, Jörg;
- Kjaer, Klaus W.;
- Pohl, Jens;
- Mundlos, Stefan
Publication type:
Article
Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations.
Published in:
Human Mutation, 2000, v. 15, n. 3, p. 254, doi. 10.1002/(SICI)1098-1004(200003)15:3<254::AID-HUMU6>3.0.CO;2-W
By:
- Hennermann, Julia B.;
- Vetter, Barbara;
- Wolf, Claudia;
- Windt, Elke;
- Bührdel, Peter;
- Seidel, Jörg;
- Mönch, Eberhard;
- Kulozik, Andreas E.
Publication type:
Article

Found: 13