Research ExplorerResearch UnitsInstitute of Human Genetics Publications

Institute of Human Genetics

451 - 500 out of 690Page size: 50

Publications

  1. 2012

  2. 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

  3. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

    Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., Dufke, A., Cremer, K., Hempel, M., Horn, D., Hoyer, J., Joset, P., Röpke, A., Moog, U., Riess, A., Thiel, C. T., Tzschach, A., Wiesener, A., Wohlleber, E., Zweier, C., Ekici, A. B., Zink, A. M., Rump, A., Meisinger, C., Grallert, H., Sticht, H., Schenck, A., Engels, H., Rappold, G., Schröck, E., Wieacker, P., Riess, O., Meitinger, T., Reis, A. & Strom, T. M., 10.11.2012, In: LANCET. 380, 9854, p. 1674-82 9 p.

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

  4. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

    Haack, T. B., Makowski, C., Yao, Y., Graf, E., Hempel, M., Wieland, T., Tauer, U., Ahting, U., Mayr, J. A., Freisinger, P., Yoshimatsu, H., Inui, K., Strom, T. M., Meitinger, T., Yonezawa, A. & Prokisch, H., 11.2012, In: J INHERIT METAB DIS. 35, 6, p. 943-8 6 p.

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

  5. Avoiding harmful procedures in patients with elevated α-fetoprotein concentrations: hereditary persistence of α-fetoprotein is an important and benign differential diagnosis!

    Bonfig, W., Hempel, M., Teichert-von Lüttichau, I., Liptay, S. & Burdach, S., 10.2012, In: J PEDIAT HEMATOL ONC. 34, 7, p. e301-3

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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. Association of shank 1A scaffolding protein with cone photoreceptor terminals in the mammalian retina.

    Stella, S. L., Vila, A., Hung, A. Y., Rome, M. E., Huynh, U., Sheng, M., Kreienkamp, H-J. & Brecha, N. C., 2012, In: PLOS ONE. 7, 9, p. 43463 9.

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

  17. Clinical utility gene card for: adrenoleukodystrophy.

    Krasemann, E., Kemp, S. & Gal, A., 2012, In: EUR J HUM GENET. 20, 3, 3.

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

  18. Clinical utility gene card for: Fabry disease.

    Gal, A., Beck, M. & Winchester, B., 2012, In: EUR J HUM GENET. 20, 2, 2.

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

  19. Clinical utility gene card for: mucopolysaccharidosis type II.

    Beck, M., Wijburg, F. A. & Gal, A., 2012, In: EUR J HUM GENET. 20, 1, 1.

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

  20. Clinical utility gene card for: Werner syndrome.

    Hisama, F. M., Kubisch, C., Martin, G. M. & Oshima, J., 2012, In: EUR J HUM GENET. 20, 5, 5.

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

  21. Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.

    Lill, C. M., Liu, T., Schjeide, B-M. M., Roehr, J. T., Akkad, D. A., Damotte, V., Alcina, A., Ortiz, M. A., Arroyo, R., Aitzkoa, L. D. L., Blaschke, P., Winkelmann, A., Gerdes, L-A., Luessi, F., Fernadez, O., Izquierdo, G., Antigüedad, A., Hoffjan, S., Cournu-Rebeix, I., Gromöller, S., Faber, H., Liebsch, M., Meissner, E., Chanvillard, C., Touze, E., Pico, F., Corcia, P., Dörner, T., Steinhagen-Thiessen, E., Baeckman, L., Heekeren, H. R., Li, S-C., Lindenberger, U., Chan, A., Hartung, H-P., Aktas, O., Lohse, P., Kümpfel, T., Kubisch, C., Zettl, U. K., Fontaine, B., Vandenbroeck, K., Matesanz, F., Urcelay, E., Bertram, L. & Zipp, F., 2012, In: J MED GENET. 49, 9, p. 558-562 9.

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

  22. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

    Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., Thiele, H., Edwards, A., Arends, M. J., Miró, X., White, J. K., Désir, J., Abramowicz, M., Dentici, M. L., Lepri, F., Hofmann, K., Har-Zahav, A., Ryder, E., Karp, N. A., Estabel, J., Gerdin, A-K. B., Podrini, C., Ingham, N. J., Altmüller, J., Nürnberg, G., Frommolt, P., Abdelhak, S., Pasmanik-Chor, M., Konen, O., Kelley, R. I., Shohat, M., Nürnberg, P., Flint, J., Steel, K. P., Hoppe, T., Kubisch, C., Adams, D. J. & Borck, G., 2012, In: AM J HUM GENET. 91, 6, p. 998-1010 6.

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

  23. Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

    Klopocki, E., Kähler, C., Foulds, N., Shah, H., Joseph, B., Vogel, H., Lüttgen, S., Bald, R., Besoke, R., Held, K., Mundlos, S. & Kurth, I., 2012, In: EUR J HUM GENET. 20, 6, p. 705-708 6.

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

  24. Dendritic mRNA targeting and translation.

    Kindler, S. & Kreienkamp, H-J., 2012, In: ADV EXP MED BIOL. 970, p. 285-305

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

  25. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

    Rivière, J-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., Ward, T. R., Butler, H. E., Kramer, N. A., Albrecht, B., Armour, C. M., Armstrong, L., Caluseriu, O., Cytrynbaum, C., Drolet, B. A., Innes, A. M., Lauzon, J. L., Lin, A. E., Mancini, G. M. S., Meschino, W. S., Reggin, J. D., Saggar, A. K., Lerman-Sagie, T., Uyanik, G., Weksberg, R., Zirn, B., Beaulieu, C. L., Consortium, F. O. R. D. G. C., Majewski, J., Bulman, D. E., O'Driscoll, M., Shendure, J., Graham, J. M., Boycott, K. M. & Dobyns, W. B., 2012, In: NAT GENET. 44, 8, p. 934-940 8.

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

  26. Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.

    Schänzer, A., Rau, I., Kress, W., Köhler, A., Neubauer, B. & Hahn, A., 2012, In: KLIN PADIATR. 224, 4, p. 256-258 4.

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

  27. Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.

    Ramakers, G. J. A., Wolfer, D., Rosenberger, G., Kuchenbecker, K., Kreienkamp, H-J., Prange-Kiel, J., Rune, G. M., Richter, K., Langnaese, K., Masneuf, S., Bösl, M. R., Fischer, K-D., Krugers, H. J., Lipp, H-P., van Galen, E. & Kutsche, K., 2012, In: HUM MOL GENET. 21, 2, p. 268-286 2.

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

  28. eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

    Borck, G., Shin, B-S., Stiller, B., Mimouni-Bloch, A., Thiele, H., Kim, J-R., Thakur, M., Skinner, C., Aschenbach, L., Smirin-Yosef, P., Har-Zahav, A., Nürnberg, G., Altmüller, J., Frommolt, P., Hofmann, K., Konen, O., Nürnberg, P., Munnich, A., Schwartz, C. E., Gothelf, D., Colleaux, L., Dever, T. E., Kubisch, C. & Basel-Vanagaite, L., 2012, In: MOL CELL. 48, 4, p. 641-646 4.

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

  29. Genome-wide association analysis identifies susceptibility loci for migraine without aura.

    Freilinger, T., Anttila, V., de Vries, B., Malik, R., Kallela, M., Terwindt, G. M., Pozo-Rosich, P., Winsvold, B., Nyholt, D. R., Oosterhout, V., Willebrordus, P. J., Artto, V., Todt, U., Hämäläinen, E., Fernández-Morales, J., Louter, M. A., Kaunisto, M. A., Schoenen, J., Raitakari, O., Lehtimäki, T., Vila-Pueyo, M., Göbel, H., Wichmann, E., Sintas, C., Uitterlinden, A. G., Hofman, A., Rivadeneira, F., Heinze, A., Tronvik, E., Duijn, V., Cornelia, M., Kaprio, J., Cormand, B., Wessman, M., Frants, R. R., Meitinger, T., Müller-Myhsok, B., Zwart, J-A., Färkkilä, M., Kubisch, C., Ferrari, M. D., Palotie, A., Dichgans, M., Maagdenberg, V. D., Arn, M. J. M. & Consortium, I. H. G., 2012, In: NAT GENET. 44, 7, p. 777-782 7.

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

  30. [Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ].

    Edler, C., Saeger, W., Orth, U., Braun, C., Wulff, B. & Sperhake, J., 2012, In: HERZ. 37, 4, p. 456-460 4.

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

  31. Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.

    Lill, C. M., Schjeide, B-M. M., Akkad, D. A., Blaschke, P., Winkelmann, A., Gerdes, L-A., Hoffjan, S., Luessi, F., Dörner, T., Li, S-C., Steinhagen-Thiessen, E., Lindenberger, U., Chan, A., Hartung, H-P., Aktas, O., Lohse, P., Kümpfel, T., Kubisch, C., Epplen, J. T., Zettl, U. K., Bertram, L. & Zipp, F., 2012, In: NEUROGENETICS. 13, 1, p. 83-86 1.

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

  32. Inositol-1,4,5-trisphosphate 3-kinase A regulates dendritic morphology and shapes synaptic Ca2+ transients.

    Windhorst, S., Minge, D., Bähring, R., Hüser, S., Schob, C., Blechner, C., Lin, H., Mayr, G. W. & Kindler, S., 2012, In: CELL SIGNAL. 24, 3, p. 750-757 3.

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

  33. Makorin ring zinc finger protein 1 (MKRN1), a novel poly(A)-binding protein-interacting protein, stimulates translation in nerve cells.

    Miroci, H., Schob, C., Kindler, S., Ölschläger-Schütt, J., Fehr, S., Jungenitz, T., Schwarzacher, S. W., Bagni, C. & Mohr, E., 2012, In: J BIOL CHEM. 287, 2, p. 1322-1334 2.

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

  34. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

    Indrieri, A., van Rahden, V., Alexandra, V., Tiranti, V., Morleo, M., Iaconis, D., Tammaro, R., D'Amato, I., Conte, I., Maystadt, I., Demuth, S., Kutsche, K., Kutsche, K., Zeviani, M. & Franco, B., 2012, In: AM J HUM GENET. 91, 5, p. 942-949 5.

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

  35. Rare hereditary diseases with defects in DNA-repair.

    Knoch, J., Kamenisch, Y., Kubisch, C. & Berneburg, M., 2012, In: EUR J DERMATOL. 22, 4, p. 443-455 4.

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

  36. Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome

    Bonfig, W., Salem, N. J. M., Heiliger, K., Hempel, M., Lederer, G., Bornkamm, M., Wieland, K., Lohse, P., Burdach, S. & Oexle, K., 2012, In: J PEDIATR ENDOCR MET. 25, 9-10, p. 991-5 5 p.

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

  37. Regional and subcellular distribution of the receptor-targeting protein PIST in the rat central nervous system.

    Chen, A., Gössling, E. K., Witkowski, L., Bhindi, A., Bauch, C., Roussy, G., Sarret, P., Kreienkamp, H-J. & Stroh, T., 2012, In: J COMP NEUROL. 520, 5, p. 889-913 5.

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

  38. Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.

    Lessel, D., Gamulin, M., Kulis, T., Toliat, M. R., Grgic, M., Friedrich, K., Zunec, R., Balija, M., Nürnberg, P., Kastelan, Z., Högel, J. & Kubisch, C., 2012, In: CARCINOGENESIS. 33, 8, p. 1548-1552 8.

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

  39. Sharpin contributes to TNFα dependent NFκB activation and anti-apoptotic signalling in hepatocytes.

    Sieber, S., Lange, N., Kollmorgen, G., Erhardt, A., Quaas, A., Gontarewicz, A., Sass, G., Tiegs, G. & Kreienkamp, H-J., 2012, In: PLOS ONE. 7, 1, p. 29993 1.

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

  40. Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via alternative translational initiation.

    Chua, J. J. E., Schob, C., Rehbein, M., Gkogkas, C. G., Richter, D. & Kindler, S., 2012, In: SCI REP-UK. 2, p. 484

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

  41. Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly.

    Ganos, C., Münchau, A., Holst, B., Schlüter, G., Gerloff, C. & Uyanik, G., 2012, In: NEUROLOGY. 79, 16, p. 140 16.

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

  42. The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.

    van Rahden, V., Brand, K., Najm, J., Heeren, J., Heeren, J., Braulke, T., Kutsche, K. & Kutsche, K., 2012, In: HUM MOL GENET. 21, 23, p. 5019-5038 23.

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

  43. The role of the postsynaptic density in the pathology of the fragile X syndrome.

    Kindler, S. & Kreienkamp, H-J., 2012, In: Results Probl Cell Differ. 54, p. 61-80

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

  44. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

    Kim, H-G., Kim, H-T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., Talkowski, M. E., Ruderfer, D., Lee, J-H., Glotzbach, C., Ha, K., Kjaergaard, S., Levin, A. V., Romeike, B. F., Kleefstra, T., Bartsch, O., Elsea, S. H., Jabs, E. W., MacDonald, M. E., Harris, D. J., Quade, B. J., Ropers, H-H., Shaffer, L. G., Kutsche, K., Layman, L. C., Tommerup, N., Kalscheuer, V. M., Shi, Y., Morton, C. C., Kim, C-H. & Gusella, J. F., 2012, In: AM J HUM GENET. 91, 1, p. 56-72 1.

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

  45. Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

    Lorenz, S., Petersen, C., Kordaß, U., Seidel, H., Zenker, M. & Kutsche, K., 2012, In: EUR J MED GENET. 55, 11, p. 615-619 11.

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

  46. Werner Syndrom - eine prototypische Form der segmentalen Progerie

    Lessel, D., Oshima, J. & Kubisch, C., 2012, In: MED GENET-BERLIN. 24, 4, p. 262-267 6 p.

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

  47. 2011

  48. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

    Hartig, M. B., Iuso, A., Haack, T., Kmiec, T., Jurkiewicz, E., Heim, K., Roeber, S., Tarabin, V., Dusi, S., Krajewska-Walasek, M., Jozwiak, S., Hempel, M., Winkelmann, J., Elstner, M., Oexle, K., Klopstock, T., Mueller-Felber, W., Gasser, T., Trenkwalder, C., Tiranti, V., Kretzschmar, H., Schmitz, G., Strom, T. M., Meitinger, T. & Prokisch, H., 07.10.2011, In: AM J HUM GENET. 89, 4, p. 543-50 8 p.

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

  49. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

    Muschol, N., Pohl, S., Meyer, A., Gal, A., Ullrich, K. & Braulke, T., 07.2011, In: AM J MED GENET A. 155A, 7, p. 1634-1639 6 p., 7.

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

  50. Cohen syndrome diagnosis using whole genome arrays

    Rivera-Brugués, N., Albrecht, B., Wieczorek, D., Schmidt, H., Keller, T., Göhring, I., Ekici, A. B., Tzschach, A., Garshasbi, M., Franke, K., Klopp, N., Wichmann, H-E., Meitinger, T., Strom, T. M. & Hempel, M., 02.2011, In: J MED GENET. 48, 2, p. 136-40 5 p.

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

  51. 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

    Oexle, K., Hempel, M., Jauch, A., Meitinger, T., Rivera-Brugués, N., Stengel-Rutkowski, S. & Strom, T., 08.01.2011, In: EUR J MED GENET. 54, 3, p. 225-30 6 p.

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

  52. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

    Gal, A., Rau, I., Leila, E. M., Kreienkamp, H-J., Fehr, S., Baklouti, K., Chouchane, I., Li, Y., Rehbein, M., Fuchs, J., Fledelius, H. C., Vilhelmsen, K., Schorderet, D. F., Munier, F. L., Ostergaard, E., Thompson, D. A. & Rosenberg, T., 2011, In: AM J HUM GENET. 88, 3, p. 382-390 3.

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

Previous 1...6 7 8 9 10 11 12 13 14 Next