Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2012

  2. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

    Abicht, A., Dusl, M., Gallenmüller, C., Guergueltcheva, V., Schara, U., Della Marina, A., Wibbeler, E., Almaras, S., Mihaylova, V., von der Hagen, M., Huebner, A., Chaouch, A., Müller, J. S. & Lochmüller, H., 10.2012, In: HUM MUTAT. 33, 10, p. 1474-84 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy

    Jaklin, C., Heiliger, K., Hempel, M., Sollacher, D., Cohen, M., Makowski, C. C., Meitinger, T., Jauch, A. & Oexle, K., 10.2012, In: EUR J MED GENET. 55, 10, p. 568-72 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

    Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nürnberg, P., Thiele, H., Robenek, H., Höhne, W., Longo, N., Pasquali, M., Mengel, E., Watkins, D., Shoubridge, E. A., Majewski, J., Rosenblatt, D. S., Fowler, B., Rutsch, F. & Baumgartner, M. R., 10.2012, In: NAT GENET. 44, 10, p. 1152-5 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Loss of TP53 expression in immortalized choroid plexus epithelial cells results in increased resistance to anticancer agents

    Krzyzankova, M., Mertsch, S., Koos, B., Jeibmann, A., Kruse, A., Kordes, U., Frühwald, M. C., Wolff, J. E., Paulus, W. & Hasselblatt, M., 01.09.2012, In: J NEURO-ONCOL. 109, 3, p. 449-55 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

    Sheikhzadeh, S., Kade, C., Keyser, B., Stuhrmann, M., Arslan-Kirchner, M., Rybczynski, M., Bernhardt, A. M., Habermann, C. R., Hillebrand, M., Mir, T., Robinson, P. N., Berger, J., Detter, C., Blankenberg, S., Schmidtke, J. & von Kodolitsch, Y., 09.2012, In: CLIN GENET. 82, 3, p. 240-247 8 p., 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Letter to the editor

    Schnell, O., Pöschl, J., Tonn, J. & Schüller, U., 09.2012, In: BRAIN PATHOL. 22, 5, p. 724

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Schmerzmanagement bei Kindern in der Schweiz

    Boettcher, M. & Göttler, S., 09.2012, In: MONATSSCHR KINDERH. 160, 9, p. 887-894

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. Advances in TERS (tip-enhanced Raman scattering) for biochemical applications

    Treffer, R., Böhme, R., Deckert-Gaudig, T., Lau, K., Tiede, S., Lin, X. & Deckert, V., 08.2012, In: BIOCHEM SOC T. 40, 4, p. 609-14 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  10. Non-enhanced ECG-gated respiratory-triggered 3-D steady-state free-precession MR angiography with slab-selective inversion: initial experience in visualisation of renal arteries in free-breathing children without renal artery abnormality

    Klee, D., Lanzman, R. S., Blondin, D., Schmitt, P., Oh, J., Salgin, B., Mayatepek, E., Antoch, G. & Schaper, J., 01.07.2012, In: PEDIATR RADIOL. 42, 7, p. 785-90 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

    Pagel, J., Beutel, K., Lehmberg, K., Koch, F., Maul-Pavicic, A., Rohlfs, A-K., Al-Jefri, A., Beier, R., Lilian, B. O., Ehlert, K., Gross-Wieltsch, U., Jorch, N., Kremens, B., Pekrun, A., Sparber-Sauer, M., Mejstrikova, E., Wawer, A., Ehl, S., Zur Stadt, U. & Janka-Schaub, G., 21.06.2012, In: BLOOD. 119, 25, p. 6016-6024 9 p., 25.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. Cantú syndrome is caused by mutations in ABCC9

    van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., Eser, M., Wieskamp, N., de Vries, P., Steehouwer, M., Veltman, J. A., Robertson, S. P., Brunner, H. G., de Vries, B. B. A. & Hoischen, A., 08.06.2012, In: AM J HUM GENET. 90, 6, p. 1094-101 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood

    Gramer, G., Wolf, N. I., Vater, D., Bast, T., Santer, R., Kamsteeg, E-J., Wevers, R. A. & Ebinger, F., 01.06.2012, In: NEUROPEDIATRICS. 43, 3, p. 168-171 4 p., 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Haben Frauen am Ende des Medizinstudiums andere Vorstellungen über Berufstätigkeit und Arbeitszeit als ihre männlichen Kollegen? Ergebnisse einer multizentrischen postalischen Befragung

    Gedrose, B., Wonneberger, C., Jünger, J., Robra, B. P., Schmidt, A., Stosch, C., Wagner, R., Scherer, M., Pöge, K., Rothe, K., van den Bussche, H. & Bussche van den, H., 01.06.2012, In: DEUT MED WOCHENSCHR. 137, 23, p. 1242-1247 6 p., 23.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin. Ursache des plötzlichen Todes

    Edler, C., Saeger, W., Orth, U., Braun, C., Wulff, B. & Sperhake, J., 01.06.2012, In: HERZ. 37, 4, p. 456-60 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

    Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topçu, M., Gökben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O. & Lehesjoki, A-E., 01.06.2012, In: J MED GENET. 49, 6, p. 391-9 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report

    Eggers, C., Volk, A. E., Kahraman, D., Fink, G. R., Leube, B., Schmidt, M. & Timmermann, L., 06.2012, In: PARKINSONISM RELAT D. 18, 5, p. 666-8 3 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. A simple clinical model to estimate the probability of Marfan syndrome

    Sheikhzadeh, S., Kusch, M. L., Rybczynski, M., Kade, C., Keyser, B., Bernhardt, A. M., Hillebrand, M., Mir, T. S., Fuisting, B., Robinson, P. N., Berger, J., Lorenzen, V., Schmidtke, J., Blankenberg, S. & von Kodolitsch, Y., 06.2012, In: QJM-INT J MED. 105, 6, p. 527-535 9 p., 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome

    Schossig, A., Wolf, N. I., Kapferer, I., Kohlschütter, A. & Zschocke, J., 01.05.2012, In: EUR J MED GENET. 55, 5, p. 319-22 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells

    Barroso, M., Rocha, M. S., Esse, R., Gonçalves, I., Gomes, A. Q., Teerlink, T., Jakobs, C., Blom, H. J., Loscalzo, J., Rivera, I., de Almeida, I. T. & Castro, R., 05.2012, In: AMINO ACIDS. 42, 5, p. 1903-11 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

    Steenweg, M. E., Ghezzi, D., Haack, T., Abbink, T. E. M., Martinelli, D., van Berkel, C. G. M., Bley, A., Diogo, L., Grillo, E., Te Water Naudé, J., Strom, T. M., Bertini, E., Prokisch, H., van der Knaap, M. S. & Zeviani, M., 05.2012, In: BRAIN. 135, Pt 5, p. 1387-94 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. Novel pharmacological chaperones that correct phenylketonuria in mice

    Santos-Sierra, S., Kirchmair, J., Perna, A. M., Reiss, D., Kemter, K., Röschinger, W., Glossmann, H., Gersting, S. W., Muntau, A. C., Wolber, G. & Lagler, F. B., 15.04.2012, In: HUM MOL GENET. 21, 8, p. 1877-87 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. Currarinot triade

    Boettcher, M. & Krebs, T. F., 01.04.2012, In: ANZ J SURG. 82, 4, p. 275

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study.

    Ding, X-Q., Bley, A., Ohlenbusch, A., Kohlschütter, A., Fiehler, J., Zhu, W. & Lanfermann, H., 04.2012, In: J MAGN RESON IMAGING. 35, 4, p. 926-932 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. Clinical predictors of testicular torsion in children

    Boettcher, M., Bergholz, R., Krebs, T. F., Wenke, K. & Aronson, D. C., 01.03.2012, In: UROLOGY. 79, 3, p. 670-4 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

    Grünert, S. C., Schwab, K. O., Pohl, M., Sass, J. O. & Santer, R., 01.03.2012, In: MOL GENET METAB. 105, 3, p. 433-437 5 p., 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Combination of hedgehog signaling blockage and chemotherapy leads to tumor reduction in pancreatic adenocarcinomas

    Bahra, M., Kamphues, C., Boas-Knoop, S., Lippert, S., Esendik, U., Schüller, U., Hartmann, W., Waha, A., Neuhaus, P., Heppner, F. L., Pietsch, T. & Koch, A., 03.2012, In: PANCREAS. 41, 2, p. 222-9 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. Präeklampsie und HELLP-Syndrom als geburtshilfliche Notfälle

    Tallarek, A-C. & Stepan, H., 03.2012, In: MED KLIN-INTENSIVMED. 107, 2, p. 96-100 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  29. Pseudoexfoliationssyndrom: Fehlen der zentralen Zone des Pseudoexfoliations-Materials bei Patienten mit Pseudophakie - eine klinische Studie

    Reiter, C., Gramer, E. & Gramer, G., 03.2012, In: KLIN MONATSBL AUGENH. 229, 3, p. 241-5 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

    Klopocki, E., Lohan, S., Doelken, S. C., Stricker, S., Ockeloen, C. W., Soares Thiele de Aguiar, R., Lezirovitz, K., Mingroni Netto, R. C., Jamsheer, A., Shah, H., Kurth, I., Habenicht, R., Warman, M., Devriendt, K., Kordass, U., Hempel, M., Rajab, A., Mäkitie, O., Naveed, M., Radhakrishna, U., Antonarakis, S. E., Horn, D. & Mundlos, S., 02.2012, In: J MED GENET. 49, 2, p. 119-25 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. Intermittent flushing improves cannula patency compared to continuous infusion for peripherally inserted venous catheters in newborns: results from a prospective observational study

    Perez, A., Feuz, I., Brotschi, B. & Bernet, V., 19.01.2012, In: J PERINAT MED. 40, 3, p. 311-4 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research

  32. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

    Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Le Merrer, M., Guest, G., Lambot, K., Tazarourte-Pinturier, M-F., Chassaing, N., Roche, O., Feenstra, I., Loechner, K., Deshpande, C., Garber, S. J., Chikarmane, R., Steinmann, B., Shahinyan, T., Martorell, L., Davies, J., Smith, W. E., Kahler, S. G., McCulloch, M., Wraige, E., Loidi, L., Höhne, W., Martin, L., Hadj-Rabia, S., Terkeltaub, R. & Rutsch, F., 13.01.2012, In: AM J HUM GENET. 90, 1, p. 25-39 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane

    Hillebrand, M., Gersting, S. W., Lotz-Havla, A. S., Schäfer, A., Rosewich, H., Valerius, O., Muntau, A. C. & Gärtner, J., 02.01.2012, In: J BIOL CHEM. 287, 1, p. 210-21 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. Basic biology and clinical application of multipotent mesenchymal stromal cells: from bench to bedside.

    Kuçi, S., Henschler, R., Müller, I., Biagi, E. & Meisel, R., 01.01.2012, In: Stem Cells Int. 2012, p. 185943

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients

    Ovunc, B., Ashraf, S., Vega-Warner, V., Bockenhauer, D., Elshakhs, N. A. S., Joseph, M., Hildebrandt, F., Gesellschaft für Pädiatrische Nephrologie (GPN) & Kemper, M. J., 01.01.2012, In: NEPHRON. 120, 3, p. c139-46

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. Suggested guidelines for the diagnosis and management of urea cycle disorders

    Häberle, J., Boddaert, N., Burlina, A., Chakrapani, A., Dixon, M., Huemer, M., Karall, D., Martinelli, D., Crespo, P. S., Santer, R., Servais, A., Valayannopoulos, V., Lindner, M., Rubio, V. & Dionisi-Vici, C., 01.01.2012, In: ORPHANET J RARE DIS. 7, p. 32

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturation.

    Ding, X-Q., Bley, A., Kohlschütter, A., Fiehler, J. & Lanfermann, H., 01.2012, In: AM J MED GENET A. 158A, 1, p. 257-60 4 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  38. Right- versus left-sided congenital diaphragmatic hernia: postnatal outcome at a specialized tertiary care center.

    Schaible, T., Kohl, T., Reinshagen, K., Brade, J., Neff, K. W., Stressig, R. & Büsing, K. A., 01.2012, In: PEDIATR CRIT CARE ME. 13, 1, p. 66-71 6 p., 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

    Grünert, S. C., Stucki, M., Morscher, R. J., Suormala, T., Bürer, C., Burda, P., Christensen, E., Ficicioglu, C., Herwig, J., Kölker, S., Möslinger, D., Pasquini, E., Santer, R., Schwab, K. O., Wilcken, B., Fowler, B., Yue, W. W. & Baumgartner, M. R., 2012, In: ORPHANET J RARE DIS. 7, p. 31

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. A child with night blindness: preventing serious symptoms of Refsum disease.

    Kohlschütter, A., Santer, R., Lukacs, Z., Altenburg, C., Kemper, M. J. & Rüther, K., 2012, In: J CHILD NEUROL. 27, 5, p. 654-656 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

    Dufke, C., Schlipf, N., Schüle, R., Bonin, M., Auer-Grumbach, M., Stevanin, G., Depienne, C., Kassubek, J., Klebe, S., Klimpe, S., Klopstock, T., Otto, S., Poths, S., Seibel, A., Stolze, H., Gal, A., Schöls, L. & Bauer, P., 2012, In: NEUROGENETICS. 13, 3, p. 215-227 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

    Kakar, N., Goebel, I., Daud, S., Nürnberg, G., Agha, N., Ahmad, A., Nürnberg, P., Kubisch, C., Ahmad, J. & Borck, G., 2012, In: EUR J MED GENET. 55, 12, p. 727-731 12.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. Aktuelle Ergebnisse notfallmedizinischer Forschung 2011/2012

    Hinkelbein, J., Bernhard, M., Braunecker, S., Meixensberger, J., Singer, D., Thiele, H. & Böttiger, B. W., 2012, In: Notfallmed up2date. 7, 4, p. 327-346 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. A long duration of the prediagnostic symptomatic interval is not associated with an unfavourable prognosis in childhood medulloblastoma.

    Gerber, N. U., von Hoff, K., von Bueren, A., Treulieb, W., Treulieb, W., Deinlein, F., Benesch, M., Zwiener, I., Soerensen, N., Warmuth-Metz, M., Pietsch, T., Mittler, U., Kuehl, J., Kortmann, R-D., Rutkowski, S. & Rutkowski, S., 2012, In: EUR J CANCER. 48, 13, p. 2028-2036 13.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  45. An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.

    Borck, G., Kakar, N., Hoch, J., Friedrich, K., Freudenberg, J., Nürnberg, G., Yilmaz, R., Daud, S., Baloch, D. M., Nürnberg, P., Oldenburg, J., Ahmad, J. & Kubisch, C., 2012, In: HUM GENET. 131, 2, p. 209-216 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. Analysis of posaconazole as oral antifungal prophylaxis in pediatric patients under 12 years of age following allogeneic stem cell transplantation.

    Döring, M., Müller, C., Johann, P-D., Erbacher, A., Kimmig, A., Schwarze, C-P., Lang, P., Handgretinger, R. & Müller, I., 2012, In: BMC INFECT DIS. 12, p. 263

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  47. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

    Dalal, A., Bhavani, G., Lakshmi, S., Bierhals, T., Bierhals, T., Nandineni, M. R., Danda, S., Danda, D., Shah, H., Vijayan, S., Gowrishankar, K., Phadke, S. R., Bidchol, A. M., Rao, A. P., Kutsche, K., Kutsche, K. & Girisha, K. M., 2012, In: AM J MED GENET A. 158A, 11, p. 2820-2828 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  48. An outbreak of Shiga toxin-producing Escherichia coli O104:H4 hemolytic uremic syndrome in Germany: presentation and short-term outcome in children.

    Loos, S., Ahlenstiel, T., Kranz, B., Staude, H., Pape, L., Härtel, C., Vester, U., Buchtala, L., Benz, K., Hoppe, B., Beringer, O., Krause, M., Müller, D., Pohl, M., Lemke, J., Hillebrand, G., Kreuzer, M., König, J., Wigger, M., Konrad, M., Haffner, D., Oh, J. & Kemper, M. J., 2012, In: CLIN INFECT DIS. 55, 6, p. 753-759 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

    Gripp, K. W., Bifeld, E., Stabley, D. L., Hopkins, E., Meien, S., Vinette, K., Sol-Church, K. & Rosenberger, G., 2012, In: AM J MED GENET A. 158A, 9, p. 2106-2118 9.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. A novel mannose 6-phosphate specific antibody fragment for diagnosis of Mucolipidosis type II and III

    Pohl, S., Braulke, T. & Müller-Loennies, S., 2012, Anticarbohydrate antibodies - From molecular basis to clinical application. Springer, Wien, p. 307-325 19 p.

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review

  51. A phenotype map for 14q32.3 terminal deletions.

    Engels, H., Schüler, H. M., Zink, A. M., Wohlleber, E., Brockschmidt, A., Hoischen, A., Drechsler, M., Lee, J. A., Ludwig, K. U., Kubisch, C., Schwanitz, G., Weber, R. G., Leube, B., Hennekam, R. C. M., Rudnik-Schöneborn, S., Kreiss-Nachtsheim, M. & Reutter, H., 2012, In: AM J MED GENET A. 158A, 4, p. 695-706 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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