Works by Schwinger, Eberhard

Results: 50

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

Published in:

JAMA Neurology, 2017, v. 74, n. 7, p. 806, doi. 10.1001/jamaneurol.2017.0666

By:

Lohmann, Katja;
Redin, Claire;
Tönnies, Holger;
Bressman, Susan B.;
Subero, Jose Ignacio Martin;
Wiegers, Karin;
Hinrichs, Frauke;
Hellenbroich, Yorck;
Rakovic, Aleksandar;
Raymond, Deborah;
Ozelius, Laurie J.;
Schwinger, Eberhard;
Siebert, Reiner;
Talkowski, Michael E.;
Saunders-Pullman, Rachel;
Klein, Christine

Publication type:

Article

The R98Q variation in DJ-1 represents a rare polymorphism.

Published in:

Annals of Neurology, 2004, v. 55, n. 1, p. 145

By:

Katja Hedrich;
Nora Schäfer;
Robert Hering;
Johann Hagenah;
Andrea J. Lanthaler;
Eberhard Schwinger;
Patricia L. Kramer;
Laurie J. Ozelius;
Susan B. Bressman;
Giovanni Abbruzzese;
Paolo Martinelli;
Vladimir Kostic;
Peter P. Pramstaller;
Peter Vieregge;
Olaf Riess

Publication type:

Article

NR4A2 mutations are rare among European patients with familial Parkinson's disease.

Published in:

Annals of Neurology, 2003, v. 54, n. 3, p. 415

By:

Claudia Wellenbrock;
Katja Hedrich;
Nora Schäfer;
Meike Kasten;
Helfried Jacobs;
Eberhard Schwinger;
Johann Hagenah;
Peter P. Pramstaller

Publication type:

Article

Frequency of parkin mutations in late-onset Parkinson's disease.

Published in:

Annals of Neurology, 2003, v. 54, n. 3, p. 415

By:

Christine Klein;
Katja Hedrich;
Claudia Wellenbrock;
Martin Kann;
Juliette Harris;
Karen Marder;
Anthony E. Lang;
Eberhard Schwinger;
Laurie J. Ozelius;
Peter Vieregge;
Peter P. Pramstaller;
Patricia L. Kramer

Publication type:

Article

ε-sarcoglycan mutations found in combination with other dystonia gene mutations.

Published in:

Annals of Neurology, 2002, v. 52, n. 5, p. 675, doi. 10.1002/ana.10358

By:

Klein, Christine;
Liu, Liu;
Doheny, Dana;
Kock, Norman;
Müller, Birgitt;
De Carvalho Aguiar, Patricia;
Leung, Joanne;
De Leon, Deborah;
Bressman, Susan B.;
Silverman, Jeremy;
Smith, Christopher;
Danisi, Fabio;
Morrison, Chris;
Walker, Ruth H.;
Velickovic, Miodrag;
Schwinger, Eberhard;
Kramer, Patricia L.;
Breakefield, Xandra O.;
Brin, Mitchell F.;
Ozelius, Laurie J.

Publication type:

Article

Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism.

Published in:

Annals of Neurology, 2002, v. 52, n. 2, p. 257, doi. 10.1002/ana.10270

By:

Kock, Norman;
Müller, Birgitt;
Vieregge, Peter;
Pramstaller, Peter P.;
Marder, Karen;
Abbruzzese, Giovanni;
Martinelli, Paolo;
Lang, Anthony E.;
Jacobs, Helfried;
Hagenah, Johann;
Harris, Juliette;
Meija-Santana, Helen;
Fahn, Stanley;
Hedrich, Katja;
Kann, Martin;
Gehlken, Ulrike;
Culjkovic, Biljana;
Schwinger, Eberhard;
Wszolek, Zbigniew K.;
Zühlke, Christine

Publication type:

Article

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.

Published in:

2002

By:

Kann, Martin;
Jacobs, Helfried;
Mohrmann, Kathrin;
Schumacher, Kirsten;
Hedrich, Katja;
Garrels, Jennifer;
Wiegers, Karin;
Schwinger, Eberhard;
Pramstaller, Peter P.;
Breakefield, Xandra O.;
Ozelius, Laurie J.;
Vieregge, Peter;
Klein, Christine

Publication type:

journal article

Association studies of Parkinson's disease and parkin polymorphisms.

Published in:

2000

By:

Klein, Christine;
Schumacher, Kirsten;
Jacobs, Helfried;
Hagenah, Johann;
Kis, Bernhard;
Garrels, Jennifer;
Schwinger, Eberhard;
Ozelius, Laurie;
Pramstaller, Peter;
Vieregge, Peter;
Kramer, Patricia L.;
Klein, C;
Schumacher, K;
Jacobs, H;
Hagenah, J;
Kis, B;
Garrels, J;
Schwinger, E;
Ozelius, L;
Pramstaller, P

Publication type:

Letter

Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.

Published in:

Journal of Neurology, 2006, v. 253, n. 8, p. 1111, doi. 10.1007/s00415-006-0209-9

By:

Dalski, Andreas;
Mitulla, Beate;
Bürk, Katrin;
Schattenfroh, Christoph;
Schwinger, Eberhard;
Zühlke, Christine

Publication type:

Article

Aprataxin mutations are a rare cause of early onset ataxia in Germany.

Published in:

Journal of Neurology, 2004, v. 251, n. 5, p. 591, doi. 10.1007/s00415-004-0374-7

By:

Habeck, Matthias;
Zühlke, Christine;
Bentele, Karl H. P.;
Unkelbach, Stephan;
Kreß, Wolfram;
Bürk, Katrin;
Schwinger, Eberhard;
Hellenbroich, Yorck

Publication type:

Article

Phenotypical variability of expanded alleles in the TATA-binding protein gene : Reduced penetrance in SCA17?

Published in:

Journal of Neurology, 2003, v. 250, n. 2, p. 161, doi. 10.1007/s00415-003-0958-7

By:

Zühlke, Christine;
Gehlken, Ulrike;
Hellenbroich, Yorck;
Schwinger, Eberhard;
Bürk, Katrin

Publication type:

Article

Over-expression of wild-type Rad51 correlates with histological grading of invasive ductal breast cancer.

Published in:

International Journal of Cancer, 2000, v. 88, n. 6, p. 907, doi. 10.1002/1097-0215(20001215)88:6<907::AID-IJC11>3.0.CO;2-4

By:

Maacke, Heiko;
Opitz, Sven;
Jost, Kirsten;
Hamdorf, Willem;
Henning, Wilhelm;
Krüger, Stefan;
Feller, Alfred Ch.;
Lopens, Antje;
Diedrich, Klaus;
Schwinger, Eberhard;
Stürzbecher, Horst-Werner

Publication type:

Article

Roberts syndrome and SC phocomelia. A single genetic entity.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 170, doi. 10.1111/j.1399-0004.1987.tb02790.x

By:

Römke, Christiane;
Froster-Iskenius, Ursula;
Heyne, Klaus;
Höhn, Wolfram;
Hof, Marita;
Grzetszczyk, Grzegorz;
Rauskolb, Rüdiger;
Rehder, Helga;
Schwinger, Eberhard

Publication type:

Article

Sarcoidosis is associated with a truncating splice site mutation in BTNL2.

Published in:

Nature Genetics, 2005, v. 37, n. 4, p. 357, doi. 10.1038/ng1519

By:

Valentonyte, Ruta;
Hampe, Jochen;
Huse, Klaus;
Rosenstiel, Philip;
Albrecht, Mario;
Stenzel, Annette;
Nagy, Marion;
Gaede, Karoline I;
Franke, Andre;
Haesler, Robert;
Koch, Andreas;
Lengauer, Thomas;
Seegert, Dirk;
Reiling, Norbert;
Ehlers, Stefan;
Schwinger, Eberhard;
Platzer, Matthias;
Krawczak, Michael;
Müller-Quernheim, Joachim;
Schürmann, Manfred

Publication type:

Article

Study of C-C Chemokine Receptor 2 Alleles in Sarcoidosis, with Emphasis on Family-based Analysis.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2005, v. 171, n. 10, p. 1136, doi. 10.1164/rccm.200405-658OC

By:

Valentonyte, Ruta;
Hampe, Jochen;
Croucher, Peter J. P.;
Müller-Quernheim, Joachim;
Schwinger, Eberhard;
Schreiber, Stefan;
Schürmann, Manfred

Publication type:

Article

Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln<sub>49</sub> TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-27

By:

Zuhlke, Christine;
Dalski, Andreas;
Schwinger, Eberhard;
Finckh, Ulrich

Publication type:

Article

Exome sequencing in a family with restless legs syndrome.

Published in:

Movement Disorders, 2012, v. 27, n. 13, p. 1686, doi. 10.1002/mds.25191

By:

Weissbach, Anne;
Siegesmund, Katharina;
Brüggemann, Norbert;
Schmidt, Alexander;
Kasten, Meike;
Pichler, Irene;
Muhle, Hiltrud;
Lohmann, Ebba;
Lohnau, Thora;
Schwinger, Eberhard;
Hagenah, Johann;
Stephani, Ulrich;
Pramstaller, Peter P.;
Klein, Christine;
Lohmann, Katja

Publication type:

Article

Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease.

Published in:

2006

By:

Hedrich, Katja;
Winkler, Susen;
Hagenah, Johann;
Kabakci, Kemal;
Kasten, Meike;
Schwinger, Eberhard;
Volkmann, Jens;
Pramstaller, Peter P.;
Kostic, Vladimir;
Vieregge, Peter;
Klein, Christine

Publication type:

journal article

Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?

Published in:

2006

By:

Djarmati, Ana;
Hedrich, Katja;
Svetel, Marina;
Lohnau, Thora;
Schwinger, Eberhard;
Romac, Stanka;
Pramstaller, Peter P.;
Kostić, Vladimir;
Klein, Christine;
Kostić, Vladimir

Publication type:

journal article

Co-occurrence of restless legs syndrome and Parkin mutations in two families.

Published in:

Movement Disorders, 2006, v. 21, n. 2, p. 258, doi. 10.1002/mds.20690

By:

Adel, Susanna;
Djarmati, Ana;
Kabakci, Kemal;
Pichler, Irene;
Eskelson, Cordula;
Lohnau, Thora;
Kock, Norman;
Hagenah, Johann;
Hedrich, Katja;
Schwinger, Eberhard;
Kramer, Patricia L.;
Pramstaller, Peter P.;
Klein, Christine

Publication type:

Article

Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

Published in:

Movement Disorders, 2005, v. 20, n. 8, p. 1060, doi. 10.1002/mds.20512

By:

Hedrich, Katja;
Pramstaller, Peter P.;
Stübke, Katrin;
Hiller, Anja;
Kabakci, Kemal;
Purmann, Sabine;
Kasten, Meike;
Scaglione, Cesa;
Schwinger, Eberhard;
Volkmann, Jens;
Kostic, Vladimir;
Vieregge, Peter;
Martinelli, Paolo;
Abbruzzese, Giovanni;
Klein, Christine;
Zühlke, Christine

Publication type:

Article

Distribution, type, and origin of Parkin mutations: Review and case studies.

Published in:

Movement Disorders, 2004, v. 19, n. 10, p. 1146, doi. 10.1002/mds.20234

By:

Hedrich, Katja;
Eskelson, Cordula;
Wilmot, Beth;
Marder, Karen;
Harris, Juliette;
Garrels, Jennifer;
Meija-Santana, Helen;
Vieregge, Peter;
Jacobs, Helfried;
Bressman, Susan B.;
Lang, Anthony E.;
Kann, Martin;
Abbruzzese, Giovanni;
Martinelli, Paolo;
Schwinger, Eberhard;
Ozelius, Laurie J.;
Pramstaller, Peter P.;
Klein, Christine;
Kramer, Patricia

Publication type:

Article

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.

Published in:

Movement Disorders, 2002, v. 17, n. 2, p. 424, doi. 10.1002/mds.10071

By:

Pramstaller, Peter P.;
Kis, Bernhard;
Eskelson, Cordula;
Hedrich, Katja;
Scherer, Monika;
Schwinger, Eberhard;
Breakefield, Xandra O.;
Kramer, Patricia L.;
Ozelius, Laurie J.;
Klein, Christine

Publication type:

Article

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 630, doi. 10.1002/humu.9248

By:

Opitz, Sven;
Käsmann-Kellner, Barbara;
Kaufmann, Markus;
Schwinger, Eberhard;
Zühlke, Christine

Publication type:

Article

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 ( ALD) genes.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 526, doi. 10.1002/humu.10072

By:

Kutsche, Kerstin;
Ressler, Bernadette;
Katzera, Heide-Gertrude;
Orth, Ulrike;
Gillessen-Kaesbach, Gabriele;
Morlot, Susanne;
Schwinger, Eberhard;
Gal, Andreas

Publication type:

Article

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 268, doi. 10.1002/humu.10049

By:

von Brederlow, Benigna;
Bolz, Hanno;
Janecke, Andreas;
La O Cabrera, Alicia;
Rudolph, Günther;
Lorenz, Birgit;
Schwinger, Eberhard;
Gal, Andreas

Publication type:

Article

A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosomes through PCR-PRINS.

Published in:

Human Mutation, 2001, v. 17, n. 2, p. 131, doi. 10.1002/1098-1004(200102)17:2<131::AID-HUMU5>3.0.CO;2-7

By:

Harrer, Thomas;
Schwinger, Eberhard;
Mennicke, Kirsten

Publication type:

Article

Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene.

Published in:

Human Mutation, 1995, v. 6, n. 1, p. 91, doi. 10.1002/humu.1380060119

By:

Bunge, Susanna;
Kleijer, Wim J.;
Steglich, Cordula;
Beck, Michael;
Schwinger, Eberhard;
Gal, Andreas

Publication type:

Article

Mutations of the iduronate-2-sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome).

Published in:

Human Mutation, 1995, v. 5, n. 1, p. 97, doi. 10.1002/humu.1380050114

By:

Popowska, Ewa;
Rathmann, Michaela;
Tylki-Szymanska, Anna;
Bunge, Susanna;
Steglich, Cordula;
Schwinger, Eberhard;
Gal, Andreas

Publication type:

Article

Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 2, p. 173, doi. 10.1002/pd.2928

By:

Rehder, Helga;
Schoner, Katharina;
Kluge, Britta;
Louwen, Frank;
Schwinger, Eberhard;
Neesen, Juergen

Publication type:

Article

Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy.

Published in:

2000

By:

Zühlke, Christine;
Atici, Jassemien;
Martorell, Loreto;
Gembruch, Ulrich;
Kohl, Martina;
Göpel, Wolfgang;
Schwinger, Eberhard;
Zühlke, C;
Atici, J;
Martorell, L;
Gembruch, U;
Kohl, M;
Göpel, W;
Schwinger, E

Publication type:

journal article

Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.

Published in:

1999

By:

Krapp, Martin;
Baschat, Ahmet A.;
Gembruch, Ulrich;
Gloeckner, Katharina;
Schwinger, Eberhard;
Reusche, Erich;
Krapp, M;
Baschat, A A;
Gembruch, U;
Gloeckner, K;
Schwinger, E;
Reusche, E

Publication type:

journal article

Clinical utility gene card for: Angelman Syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 1, doi. 10.1038/ejhg.2014.93

By:

Buiting, Karin;
Clayton-Smith, Jill;
Driscoll, Daniel J;
Gillessen-Kaesbach, Gabriele;
Kanber, Deniz;
Schwinger, Eberhard;
Williams, Charles;
Horsthemke, Bernhard

Publication type:

Article

Clinical utility gene card for: Prader-Willi Syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.66

By:

Buiting, Karin;
Cassidy, Suzanne B;
Driscoll, Daniel J;
Gillessen-Kaesbach, Gabriele;
Kanber, Deniz;
Tauber, Maithé;
Schwinger, Eberhard;
Horsthemke, Bernhard

Publication type:

Article

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2010.5

By:

Schwinger, Eberhard;
Devriendt, Koen;
Rauch, Anita;
Philip, Nicole

Publication type:

Article

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 118, doi. 10.1038/sj.ejhg.5201286

By:

Dalski, Andreas;
Atici, Jassemien;
Kreuz, Friedmar R.;
Hellenbroich, Yorck;
Schwinger, Eberhard;
Christine Zühlke

Publication type:

Article

CFTR gene mutations in sarcoidosis.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 729

By:

Schürmann, Manfred;
Albrecht, Melanie;
Schwinger, Eberhard;
Stuhrmann, Manfred

Publication type:

Article

Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 3, p. 204

By:

Zühlke, Christine;
Dalski, Andreas;
Hellenbroich, Yorck;
Bubel, Stefanie;
Schwinger, Eberhard;
Bürk, Katrin

Publication type:

Article

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 160

By:

Zühlke, Christine;
Hellenbroich, Yorck;
Dalski, Andreas;
Hagenah, Johann;
Vieregge, Peter;
Riess, Olaf;
Klein, Christine;
Schwinger, Eberhard

Publication type:

Article

R124C Mutation of the βIGH3 Gene Leads to Remarkable Phenotypic Variability in a Greek Four-Generation Family with Lattice Corneal Dystrophy Type 1.

Published in:

Ophthalmologica, 2001, v. 215, n. 6, p. 444, doi. 10.1159/000050906

By:

Hellenbroich, Yorck;
Tzivras, Gerasimos;
Neppert, Birte;
Schwinger, Eberhard;
Zühlke, Christine

Publication type:

Article

Genetics of male subfertility: consequences for the clinical work-up.

Published in:

Human Reproduction, 1999, v. 14, n. suppl_1, p. 24, doi. 10.1093/humrep/14.suppl_1.24

By:

Küpker, Wolfgang;
Schwinger, Eberhard;
Hiort, Olaf;
Ludwig, Michael;
Nikolettos, Nikos;
Schlegel, Peter N.;
Diedrich, Klaus

Publication type:

Article

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16, p. 1649, doi. 10.1093/hmg/10.16.1649

By:

Hedrich, Katja;
Kann, Martin;
Lanthaler, Andrea J.;
Dalski, Andreas;
Eskelson, Cordula;
Landt, Olfert;
Schwinger, Eberhard;
Vieregge, Peter;
Lang, Anthony E.;
Breakefield, Xandra O.;
Ozelius, Laurie J.;
Pramstaller, Peter P.;
Klein, Christine

Publication type:

Article

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1903

By:

Fuchs, Sigrid;
Sarde, Claude Olivier;
Wedemann, Heike;
Schwinger, Eberhard;
Mandel, Jean Louis;
Gal, Andreas

Publication type:

Article

X-linked dominant Charcot — Marie — Tooth neuropathy: valine-38-methionine substitution of connexin32.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 9, p. 1699

By:

Orth, Ulrike;
Fairweather, Nicholas;
Exler, Mareike-Christine;
Schwinger, Eberhard;
Gal, Andreas

Publication type:

Article

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 861

By:

Bunge, Susanna;
Kleijer, Wim J.;
Steglich, Cordula;
Beck, Michael;
Zuther, Cornelia;
Morris, C.Phillip;
Schwinger, Eberhard;
Hopwood, John J.;
Scott, Hamish S.;
Gal, Andreas

Publication type:

Article

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the β-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 323

By:

Gal, Andreas;
Xu, Suying;
Piczenik, Yoa;
Eiberg, Hans;
Duvigneau, Christine;
Schwinger, Eberhard;
Rosenberg, Thomas

Publication type:

Article

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

Published in:

Human Molecular Genetics, 1993, v. 2, n. 11, p. 1871

By:

Bunge, Susanna;
Steglich, Cordula;
Zuther, Cornelia;
Beck, Michael;
Morris, C. Phillip;
Schwinger, Eberhard;
Schinzel, Albert;
Hopwood, John J.;
Gal, Andreas

Publication type:

Article

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 5, p. 335

By:

Bunge, Susanna;
Steglich, Cordula;
Beck, Michael;
Rosenkranz, Walter;
Schwinger, Eberhard;
Hopwood, John J.;
Gal, Andreas

Publication type:

Article

Identification of human candidate genes for male infertility by digital differential display.

Published in:

Molecular Human Reproduction, 2001, v. 7, n. 1, doi. 10.1093/molehr/7.1.11

By:

Olesen, Christian;
Hansen, Claus;
Bendsen, Eske;
Byskov, Anne Grete;
Schwinger, Eberhard;
Lopez-Pajares, Isidora;
Jensen, Peter K.A.;
Kristoffersson, Ulf;
Schubert, Regine;
Assche, Elvira Van;
Wahlstroem, Jan;
Lespinasse, James;
Tommerup, Niels

Publication type:

Article

Polar Body Biopsy in the Diagnosis of Monogenic Diseases-The Birth of Three Healthy Children.

Published in:

Deutsches Ärzteblatt International, 2009, v. 106, n. 33, p. 1

By:

Griesinger, Georg;
Bündgen, Nana;
Salmen, Diana;
Schwinger, Eberhard;
Gillessen-Kaesbach, Gabriele;
Diedrich, Klaus

Publication type:

Article