Research ExplorerScientific StaffKerstin Kutsche Publications

Prof. Dr. ID: 40416

Kerstin Kutsche

graph of relations
Affiliations
51 - 100 out of 138Page size: 50

Publications

  1. 2018

  2. Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

    Piard, J., Essien Umanah, G. K., Harms, F. L., Abalde-Atristain, L., Amram, D., Chang, M., Chen, R., Alawi, M., Salpietro, V., Rees, M. I., Chung, S-K., Houlden, H., Verloes, A., Dawson, T. M., Dawson, V. L., Van Maldergem, L. & Kutsche, K., 01.06.2018, In: BRAIN. 141, 6, p. e50

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

  3. Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants

    Bierhals, T., Korenke, G. C., Baethmann, M., Marín, L. L., Staudt, M. & Kutsche, K., 06.2018, In: EUR J MED GENET. 61, 6, p. 329-334 6 p.

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

  4. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

    Kortüm, F., Jamra, R. A., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., Tang, S., Huhle, D., Korenke, G. C., Hebbar, M., Shukla, A., Girisha, K. M., Steinlin, M., Waldmeier-Wilhelm, S., Montomoli, M., Guerrini, R., Lemke, J. R. & Kutsche, K., 05.2018, In: EUR J HUM GENET. 26, 5, p. 695-708 14 p.

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

  5. RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

    Meyer Zum Büschenfelde, U., Brandenstein, L. I., von Elsner, L., Flato, K., Holling, T., Zenker, M., Rosenberger, G. & Kutsche, K., 05.2018, In: PLOS GENET. 14, 5, p. e1007370

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

  6. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation

    Danyel, M., Kortüm, F., Dathe, K., Kutsche, K. & Horn, D., 04.2018, In: AM J MED GENET A. 176, 4, p. 992-996 5 p.

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

  7. A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

    Piard, J., Umanah, G. K. E., Harms, F. L., Abalde-Atristain, L., Amram, D., Chang, M., Chen, R., Alawi, M., Salpietro, V., Rees, M. I., Chung, S-K., Houlden, H., Verloes, A., Dawson, T. M., Dawson, V. L., Van Maldergem, L. & Kutsche, K., 01.03.2018, In: BRAIN. 141, 3, p. 651-661 11 p.

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

  8. Elsahy-Waters syndrome is caused by biallelic mutations in CDH11

    Harms, F. L., Nampoothiri, S., Anazi, S., Yesodharan, D., Alawi, M., Kutsche, K. & Alkuraya, F. S., 02.2018, In: AM J MED GENET A. 176, 2, p. 477-482 6 p.

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

  9. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

    Harms, F. L., Alawi, M., Amor, D. J., Tan, T. Y., Cuturilo, G., Lissewski, C., Brinkmann, J., Schanze, D., Kutsche, K. & Zenker, M., 02.2018, In: AM J MED GENET A. 176, 2, p. 470-476 7 p.

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

  10. 2017

  11. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

    Syrbe, S., Harms, F. L., Parrini, E., Montomoli, M., Mütze, U., Helbig, K. L., Polster, T., Albrecht, B., Bernbeck, U., van Binsbergen, E., Biskup, S., Burglen, L., Denecke, J., Heron, B., Heyne, H. O., Hoffmann, G. F., Hornemann, F., Matsushige, T., Matsuura, R., Kato, M., Korenke, G. C., Kuechler, A., Lämmer, C., Merkenschlager, A., Mignot, C., Ruf, S., Nakashima, M., Saitsu, H., Stamberger, H., Pisano, T., Tohyama, J., Weckhuysen, S., Werckx, W., Wickert, J., Mari, F., Verbeek, N. E., Møller, R. S., Koeleman, B., Matsumoto, N., Dobyns, W. B., Battaglia, D., Lemke, J. R., Kutsche, K. & Guerrini, R., 01.09.2017, In: BRAIN. 140, 9, p. 2322-2336 15 p.

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

  12. Genetic diagnostics of inherited aortic diseases: Medical strategy analysis

    Kodolitsch, Y. & Kutsche, K., 08.2017, In: HERZ. 42, 5, p. 459-467

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

  13. Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases

    Groth, K. A., Kodolitsch, Y., Kutsche, K., Gaustadnes, M., Thorsen, K., Andersen, N. H. & Gravholt, C. H., 07.2017, In: GENET MED. 19, 7, p. 772-777

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

  14. Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

    Podolska, A., Kobelt, A., Fuchs, S., Hackmann, K., Rump, A., Schröck, E., Kutsche, K. & Di Donato, N., 05.2017, In: AM J MED GENET A. 173, 5, p. 1334-1341

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

  15. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

    Harms, F. L., Girisha, K. M., Hardigan, A. A., Kortüm, F., Shukla, A., Alawi, M., Dalal, A., Brady, L., Tarnopolsky, M., Bird, L. M., Ceulemans, S., Bebin, M., Bowling, K. M., Hiatt, S. M., Lose, E. J., Primiano, M., Chung, W. K., Juusola, J., Akdemir, Z. C., Bainbridge, M., Charng, W-L., Drummond-Borg, M., Eldomery, M. K., El-Hattab, A. W., Saleh, M. A. M., Bézieau, S., Cogné, B., Isidor, B., Küry, S., Lupski, J. R., Myers, R. M., Cooper, G. M. & Kutsche, K., 05.01.2017, In: AM J HUM GENET. 100, 1, p. 117-127

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

  16. Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

    Kortüm, F., Marquardt, I., Alawi, M., Korenke, G. C., Spranger, S., Meinecke, P. & Kutsche, K., 01.2017, In: PEDIATRICS. 139, 1, p. pii: e20160550

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

  17. 2016

  18. Response to Calgani et al

    Zenker, M. & Kutsche, K., 12.2016, In: GENET MED. 18, 12, p. 1321

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

  19. Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

    Shukla, A., Hebbar, M., Harms, F. L., Kadavigere, R., Girisha, K. M. & Kutsche, K., 11.2016, In: AM J MED GENET A. 170, 11, p. 2998-3003

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

  20. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

    Girisha, K. M., Kortüm, F., Shah, H., Alawi, M., Dalal, A., Bhavani, G. S. & Kutsche, K., 01.08.2016, In: EUR J HUM GENET. 24, 8, p. 1206-10

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

  21. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis

    Vogel, M., Velleuer, E., Schmidt-Jiménez, L. F., Mayatepek, E., Borkhardt, A., Alawi, M., Kutsche, K. & Kortüm, F., 07.2016, In: AM J MED GENET A. 170, 7, p. 1813-9 7 p.

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

  22. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

    Kouz, K., Lissewski, C., Spranger, S., Mitter, D., Riess, A., Lopez-Gonzalez, V., Lüttgen, S., Aydin, H., von Deimling, F., Evers, C., Hahn, A., Hempel, M., Issa, U., Kahlert, A-K., Lieb, A., Villavicencio-Lorini, P., Ballesta-Martinez, M. J., Nampoothiri, S., Ovens-Raeder, A., Puchmajerová, A., Satanovskij, R., Seidel, H., Unkelbach, S., Zabel, B., Kutsche, K. & Zenker, M., 04.2016, In: GENET MED. 18, 12, p. 1226-1234

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

  23. Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse

    Rippe, M., De Backer, J., Kutsche, K., Mosquera, L. M., Schüler, H., Rybczynski, M., Bernhardt, A. M., Keyser, B., Hillebrand, M., Mir, T. S., Berger, J., Blankenberg, S., Koschyk, D. & von Kodolitsch, Y., 03.2016, In: IJC HEART VASC. 10, p. 39–46 8 p.

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

  24. Clinical and genetic diagnosis of Marfan syndrome in childhood are Equal- FBN1 mutation should not influence handling of pediatric patients with confirmed Marfansyndrome

    Stark, V., Arndt, F., Harring, G., Keyser, B., von Kodolitsch, Y., Kozlik-Feldmann, R., Kutsche, K., Müller, G., Rybczynski, M. & Mir, T., 12.01.2016, In: J Integr Cardiol.

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

  25. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

    Girisha, K. M., Bidchol, A. M., Graul-Neumann, L., Gupta, A., Hehr, U., Lessel, D., Nader, S., Shah, H., Wickert, J. & Kutsche, K., 2016, In: BMC MED GENET. 17, p. 27

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

  26. The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

    von Kodolitsch, Y., Rybczynski, M., Vogler, M., Mir, T. S., Schüler, H., Kutsche, K., Rosenberger, G., Detter, C., Bernhardt, A. M., Larena-Avellaneda, A., Kölbel, T., Debus, E. S., Schroeder, M., Linke, S. J., Fuisting, B., Napp, B., Kammal, A. L., Püschel, K., Bannas, P., Hoffmann, B. A., Gessler, N., Vahle-Hinz, E., Kahl-Nieke, B., Thomalla, G., Weiler-Normann, C., Ohm, G., Neumann, S., Benninghoven, D., Blankenberg, S. & Pyeritz, R. E., 2016, In: J MULTIDISCIP HEALTH. 9, p. 587-614 28 p.

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

  27. Vererbung und Genetische Tests

    Kutsche, K., 2016, Das Marfan-Syndrom. M. H. D. E. V. (ed.). 1 ed. Springer, p. 47-56 10 p. 11

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Transfer

  28. 2015

  29. Interpretation of sequence variants of the FBN1 gene analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants

    von Kodolitsch, Y. & Kutsche, K., 09.2015, In: J HUM GENET. 60, 9, p. 465-466 2 p.

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

  30. Structure-function-behavior relationship in estrogen-induced synaptic plasticity

    Vierk, R., Bayer, J., Freitag, S., Muhia, M., Kutsche, K., Wolbers, T., Kneussel, M., Sommer-Blöchl, T. & Rune, G. M., 08.2015, In: HORM BEHAV. 74, p. 139-48 10 p.

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

  31. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

    Kortüm, F., Caputo, V., Bauer, C. K., Stella, L., Ciolfi, A., Alawi, M., Bocchinfuso, G., Flex, E., Paolacci, S., Dentici, M. L., Grammatico, P., Korenke, G. C., Leuzzi, V., Mowat, D., Nair, L. D. V., Nguyen, T. T. M., Thierry, P., White, S. M., Dallapiccola, B., Pizzuti, A., Campeau, P. M., Tartaglia, M. & Kutsche, K., 01.06.2015, In: NAT GENET. 47, 6, p. 661-7 7 p.

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

  32. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

    Kratz, C. P., Franke, L., Peters, H., Kohlschmidt, N., Kazmierczak, B., Finckh, U., Bier, A., Eichhorn, B., Blank, C., Kraus, C., Kohlhase, J., Pauli, S., Wildhardt, G., Kutsche, K., Auber, B., Christmann, A., Bachmann, N., Mitter, D., Cremer, F. W., Mayer, K., Daumer-Haas, C., Nevinny-Stickel-Hinzpeter, C., Oeffner, F., Schlüter, G., Gencik, M., Überlacker, B., Lissewski, C., Schanze, I., Greene, M. H., Spix, C. & Zenker, M., 14.04.2015, In: BRIT J CANCER. 112, 8, p. 1392-7 6 p.

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

  33. Phenotypic and molecular insights into CASK-related disorders in males

    Moog, U., Bierhals, T., Brand, K., Bautsch, J., Biskup, S., Brune, T., Denecke, J., de Die-Smulders, C. E., Evers, C., Hempel, M., Henneke, M., Yntema, H., Menten, B., Pietz, J., Pfundt, R., Schmidtke, J., Steinemann, D., Stumpel, C. T., Van Maldergem, L. & Kutsche, K., 12.04.2015, In: ORPHANET J RARE DIS. 10, 1, p. 44

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

  34. Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

    van Rahden, V. A., Fernandez-Vizarra, E., Alawi, M., Brand, K., Fellmann, F., Horn, D., Zeviani, M. & Kutsche, K., 02.04.2015, In: AM J HUM GENET. 96, 4, p. 640-50 11 p.

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

  35. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

    Abdollahpour, H., Alawi, M., Kortüm, F., Beckstette, M., Seemanova, E., Komárek, V., Rosenberger, G. & Kutsche, K., 2015, In: EUR J HUM GENET. 23, 2, p. 256-259

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

  36. 2014

  37. Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

    Sheikhzadeh, S., Brockstädt, L., Habermann, C. R., Sondermann, C., Bannas, P., Mir, T. S., Staebler, A., Seidel, H., Keyser, B., Arslan-Kirchner, M., Kutsche, K., Berger, J., Blankenberg, S. & Kodolitsch, Y., 01.12.2014, In: CLIN GENET. 86, 6, p. 545-551 7 p.

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

  38. Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes

    Hillebrand, M., Millot, N., Sheikhzadeh, S., Rybczynski, M., Gerth, S., Kölbel, T., Keyser, B., Kutsche, K., Robinson, P. N., Berger, J., Mir, T. S., Zeller, T., Blankenberg, S., Kodolitsch, Y. & Goldmann, B., 01.11.2014, In: CLIN CARDIOL. 37, 11, p. 672-679 8 p.

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

  39. Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

    Danda, S., van Rahden, V. A., John, D., Paul, P., Raju, R., Koshy, S. & Kutsche, K., 01.08.2014, In: MOL SYNDROMOL. 5, 5, p. 251-6 6 p.

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

  40. Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg

    Kortüm, F., Abdollahpour, H., Alawi, M., Korenke, G. C., Seemanova, E., Tinschert, S., Zenker, M., Rosenberger, G. & Kutsche, K., 12.06.2014, In: MED GENET-BERLIN. 26, p. 246-254

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

  41. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

    Girisha, K. M., Abdollahpour, H., Shah, H., Bhavani, G. S., Graham, J. M., Boggula, V. R., Phadke, S. R. & Kutsche, K., 01.04.2014, In: AM J MED GENET A. 164A, 4, p. 1035-40 6 p.

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

  42. Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8

    Schmidt, T., Bierhals, T., Kortüm, F., Bartels, I., Liehr, T., Burfeind, P., Shoukier, M., Frank, V., Bergmann, C. & Kutsche, K., 01.01.2014, In: CYTOGENET GENOME RES. 142, 1, p. 1-6 6 p.

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

  43. Clinical spectrum of females with HCCS Mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

    van Rahden, V. A., Rau, I., Fuchs, S., Kosyna, F. K., de Almeida, H. L., Fryssira, H., Isidor, B., Jauch, A., Joubert, M., Lachmeijer, A. M. A., Zweier, C., Moog, U. & Kutsche, K., 01.01.2014, In: ORPHANET J RARE DIS. 9, 1, p. 53

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

  44. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

    Sheikhzadeh, S., Sondermann, C., Rybczynski, M., Habermann, C. R., Brockstädt, L., Keyser, B., Kaemmerer, H., Mir, T., Staebler, A., Robinson, P. N., Kutsche, K., Berger, J., Blankenberg, S. & Kodolitsch, Y., 2014, In: CLIN GENET. 86, 3, p. 238-245

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

  45. Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome

    de Almeida, H. L., Rossi, G., de Abreu, L. B., Bergamaschi, C., da Silva, A. B. & Kutsche, K., 2014, In: AN BRAS DERMATOL. 89, 1, p. 180-1 2 p.

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

  46. 2013

  47. Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

    Chilian, B., Abdollahpour, H., Bierhals, T., Haltrich, I., Fekete, G., Nagel, I., Rosenberger, G. & Kutsche, K., 01.12.2013, In: CLIN GENET. 84, 6, p. 560-5 6 p.

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

  48. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

    Brownstein, C. A., Towne, M. C., Luquette, L. J., Harris, D. J., Marinakis, N. S., Meinecke, P., Kutsche, K., Campeau, P. M., Yu, T. W., Margulies, D. M., Agrawal, P. B. & Beggs, A. H., 01.12.2013, In: EUR J MED GENET. 56, 12, p. 678-82 5 p.

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

  49. CASK-Related Disorders

    Moog, U., Uyanik, G. & Kutsche, K., 26.11.2013, In: GeneReviews®.

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

  50. A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

    Leutermann, R., Sheikhzadeh, S., Brockstädt, L., Rybczynski, M., van Rahden, V., Kutsche, K., Kodolitsch, Y. & Rosenberger, G., 06.11.2013, In: EUR J HUM GENET. 22, p. 944-948

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

  51. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations

    Bierhals, T., Korenke, G. C., Uyanik, G. & Kutsche, K., 01.06.2013, In: EUR J MED GENET. 56, 6, p. 325-30 6 p.

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

  52. Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

    Hüning, I., Kutsche, K., Rajaei, S., Erlandsson, A., Lovmar, L., Rundberg, J. & Stefanova, M., 01.04.2013, In: EUR J MED GENET. 56, 4, p. 188-91 4 p.

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

  53. Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men

    Bayer, J., Rune, G., Kutsche, K., Schwarze, U., Kalisch, R., Büchel, C. & Sommer-Blöchl, T., 01.02.2013, In: HIPPOCAMPUS. 23, 2, p. 117-21 5 p.

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

  54. Expanding the phenotype associated with 17q12 duplication: case report and review of the literature

    Bierhals, T., Maddukuri, S. B., Kutsche, K. & Girisha, K. M., 01.02.2013, In: AM J MED GENET A. 161A, 2, p. 352-9 8 p.

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

  55. 2012

  56. Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.

    Lozić, B., Ljubković, J., Pandurić, D. G., Saltvig, I., Kutsche, K., Krželj, V. & Zemunik, T., 01.12.2012, In: BRAZ J MED BIOL RES. 45, 12, p. 1315-1319 5 p., 12.

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

  57. 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

Previous 1 2 3 Next