Congenital heart disease is a feature of severe infantile spinal muscular atrophy von Rudnik-Schöneborn, S, Heller, R, Berg, C, Betzler, C, Grimm, T, Eggermann, T, Eggermann, K, Wirth, R, Wirth, B, Zerres, K

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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients von Rudnik-Schöneborn, S., Tölle, D., Senderek, J., Eggermann, K., Elbracht, M., Kornak, U., von der Hagen, M., Kirschner, J., Leube, B., Müller-Felber, W., Schara, U., von Au, K., Wieczorek, D., Bußmann, C., Zerres, K.

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NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features von Sachwitz, J., Meyer, R., Fekete, G., Spranger, S., Matulevičienė, A., Kučinskas, V., Bach, A., Luczay, A., Brüchle, N.O., Eggermann, K., Zerres, K., Elbracht, M., Eggermann, T.

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Recurrent abdominal pain in hereditary sensory autonomic neuropathy type II (HSAN-II) von Alkaissi, H., Al-Sibahee, E., Baher, H., Eggermann, K., Al-Abayechi, A., Kurth, I.

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Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L -Associated Neuropathy von Eggermann, K, Meyer, R, Begemann, M, Dey, D, Bültmann, E, Kurth, I, Korenke, G C, Knopp, C

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Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome von Eggermann, T, Schönherr, N, Eggermann, K, Buiting, K, Ranke, MB, Wollmann, HA, Binder, G

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Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling von Rudnik-Schöneborn, S, Berg, C, Zerres, K, Betzler, C, Grimm, T, Eggermann, T, Eggermann, K, Wirth, R, Wirth, B, Heller, R

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Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain von Eggermann, T, Schönherr, N, Meyer, E, Obermann, C, Mavany, M, Eggermann, K, Ranke, M B, Wollmann, H A

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Is maternal duplication of 11p15 associated with Silver-Russell syndrome? von Eggermann, T, Meyer, E, Obermann, C, Heil, I, Schüler, H, Ranke, M B, Eggermann, K, Wollmann, H A

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Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome von Eggermann, Thomas, Eggermann, Katja, Schönherr, Nadine

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Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients von Eggermann, Thomas, Mergenthaler, Susanne, Eggermann, Katja, Albers, Alexandra, Linnemann, Knud, Fusch, Christoph, Ranke, Michael B, Wollmann, Hartmut A

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(Epi)mutations in 11p15 significantly contribute to Silver–Russell syndrome: but are they generally involved in growth retardation? von Schönherr, N., Meyer, E., Eggermann, K., Ranke, M.B., Wollmann, H.A., Eggermann, T.

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Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter von Eggermann, T, Meschede, D, Schüler, H, Palm, S, Gläser, D, Horsthemke, B, Eggermann, K, Haverkamp, F, Zerres, K

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P40 Autosomal dominant centronuclear myopathy caused by a heterozygous stop-mutation in BIN1 – A case report von Dyong, T., Eggermann, K., Kurth, I., Weis, J., Gess, B., Schulz, J.B., Dohrn, M.F.

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Phenotype spectrum of idiopathic small fiber neuropathies – Experience from a prospective registry study (n > 200) von Van Den Braak, N., Dumke, C., Broschwitz, R., Peschke, G.Z., Maier, A., Schulz, J.B., Quade, A., Häusler, M.G., Lischka, A., Eggermann, K., Ingo Kurth, I., Lampert, A., Rolke, R., Dohrn, M.F.

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Uniparental disomy: clinical indications for testing in growth retardation von EGGERMANN, Thomas, ZERRES, Klaus, EGGERMANN, Katja, MOORE, Gudrun, WOLLMANN, Hartmut A

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Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in ISAMD9L/I-Associated Neuropathy von Eggermann, K, Meyer, R, Begemann, M, Dey, D, Bültmann, E, Kurth, I, Korenke, G. C, Knopp, C

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Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q) von ALBRECHT, BEATE, MERGENTHALER, SUSANNE, EGGERMANN, KATJA, ZERRES, KLAUS, PASSARGE, EBERHARD, EGGERMANN, THOMAS

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Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH von Roos, A., Rudnik-Schöneborn, S., Eggermann, K., Eggermann, T., Senderek, J., Schwanitz, G., Zerres, K., Schüler, H.M.

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Genetics of Pain: Novel variants identified by the European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (ENISNIP) von Lischka, A, Eggermann, K, Cakar, A, Bocek, R, Bartesaghi, L, Elbracht, M, Hornemann, T, Senderek, J, Auer-Grumbach, M, Parman, Y, Lassuthova, P, Kurth, I

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