Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons
Asadollahi, R, Delvendahl, I, Muff, R, Tan, G, Rodríguez, D G, Turan, S, Russo, M, Oneda, B, Joset, P, Boonsawat, P, Masood, R, Mocera, M, Ivanovski, I, Baumer, A, Bachmann-Gagescu, R, Schlapbach, R, Rehrauer, H, Steindl, K, Begemann, A, Reis, A, Winkler, J, Winner, B, Müller, M, Rauch, A
Published in Human molecular genetics (19.06.2023)
Published in Human molecular genetics (19.06.2023)
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Journal Article
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability
Rosin, Nadine, Elcioglu, Nursel H, Beleggia, Filippo, Isgüven, Pinar, Altmüller, Janine, Thiele, Holger, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Nürnberg, Peter, Wollnik, Bernd, Yigit, Gökhan
Published in Human molecular genetics (01.07.2015)
Published in Human molecular genetics (01.07.2015)
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Journal Article
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome
Steindl, K, Alazami, AM, Bhatia, KP, Wuerfel, JT, Petersen, D, Cartolari, R, Neri, G, Klein, C, Mongiardo, B, Alkuraya, FS, Schneider, SA
Published in Clinical genetics (01.12.2010)
Published in Clinical genetics (01.12.2010)
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Journal Article
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients
Alazami, AM, Schneider, SA, Bonneau, D, Pasquier, L, Carecchio, M, Kojovic, M, Steindl, K, De Kerdanet, M, Nezarati, MM, Bhatia, KP, Degos, B, Goh, E, Alkuraya, FS
Published in Clinical genetics (01.12.2010)
Published in Clinical genetics (01.12.2010)
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Journal Article
Complement factor H gene polymorphisms and Chlamydia pneumoniae infection in age-related macular degeneration
HAAS, P, STEINDL, K, SCHMID-KUBISTA, K. E, AGGERMANN, T, KRUGLUGER, W, HAGEMAN, G. S, BINDER, S
Published in Eye (London) (01.12.2009)
Published in Eye (London) (01.12.2009)
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Journal Article
PP03.15 – 2755: Clinical metabolomics reveals a novel plasma biomarker for Snyder Robinson syndrome (X-linked spermine synthase deficiency)
Abela, L, Simmons, L, Steindl, K, Schmitt, B, Mastrangelo, M, Joset, P, Papuc, M, Crowther, L.M, Mathis, D, Rauch, A, Plecko, B
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Journal Article
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome
Schwartz, C E, Gillessen-Kaesbach, G, May, M, Cappa, M, Gorski, J, Steindl, K, Neri, G
Published in European journal of human genetics : EJHG (01.11.2000)
Published in European journal of human genetics : EJHG (01.11.2000)
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Journal Article
Autosomal dominant simple microphthalmos
Vingolo, E M, Steindl, K, Forte, R, Zompatori, L, Iannaccone, A, Sciarra, A, Del Porto, G, Pannarale, M R
Published in Journal of medical genetics (01.09.1994)
Published in Journal of medical genetics (01.09.1994)
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Journal Article
In Delayed Myelination Count on T(o)3
Heinrich, B., Steindl, K., Gogoll, L., Dünner, C., Plecko, B., Hackenberg, A.
Published in Neuropediatrics (20.04.2016)
Published in Neuropediatrics (20.04.2016)
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Conference Proceeding
Severe Case of Congenital Myasthenic Syndrome with Novel Mutations in MUSK
Giarrana, M., Joset, P., Robb, S., Steindl, K., Rauch, A., Klein, A.
Published in Neuropediatrics (11.09.2014)
Published in Neuropediatrics (11.09.2014)
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Conference Proceeding
A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)
Abela, L., Simmons, L., Steindl, K., Schmitt, B., Pascal, J., Papuc, M., Crowther, L., Rauch, A., Plecko, B.
Published in Neuropediatrics (16.04.2015)
Published in Neuropediatrics (16.04.2015)
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Conference Proceeding
A Combined Metabolic–Genetic Approach to Early-Onset Epileptic Encephalopathies: Results from a Swiss Study Cohort
Abela, L., Steindl, K., Simmons, L., Joset, P., Papuc, M., Mathis, D., Schmitt, B., Wohlrab, G., Klein, A., Asadollahi, R., Crowther, L., Sass, O., Hersberger, M., Rauch, A., Plecko, B.
Published in Neuropediatrics (20.04.2016)
Published in Neuropediatrics (20.04.2016)
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Conference Proceeding
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Pedace, L, de Boer, E, Jackson, A, Stellacci, E, Lo Cicero, S, Dentici, ML, McWalter, K, Sanchez-Lara, PA, Lindstrom, K, Madan-Khetarpal, S, MacKenzie, JJ, Monteleone, B, Zhou, DH, Sawyer, SL, Monteiro, FP, Macke, EL, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Stals, K, Cabet, S, Steindl, K, Weiss, K, Castle, AMR, Kalsner, L, Chandler, KE, Sheehan, W, Shinde, DN, Goodloe, D, Bluske, K, Faletra, F, Kurtz-Nelson, EC, Anderlid, BM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
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Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
Conference Proceeding
The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12
LECCE, Rosetta, MURDOLO, Marina, GELLI, Gianfranco, STEINDL, Katharina, COPPOLA, Livia, ROMANO, Anna, CUPELLI, Elisa, NERI, Giovanni, ZOLLINO, Marcella
Published in Human genetics (01.02.2006)
Published in Human genetics (01.02.2006)
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Journal Article
Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa
Iannaccone, A, Rispoli, E, Vingolo, E M, Onori, P, Steindl, K, Rispoli, D, Pannarale, M R
Published in Documenta ophthalmologica (01.01.1995)
Published in Documenta ophthalmologica (01.01.1995)
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Journal Article
Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis
Del Porto, G, Vingolo, E M, Steindl, K, Forte, R, Iannaccone, A, Rispoli, E, Pannarale, M R
Published in Graefe's archive for clinical and experimental ophthalmology (01.12.1994)
Published in Graefe's archive for clinical and experimental ophthalmology (01.12.1994)
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Journal Article
New syndrome of mental retardation, Robin sequence, and brachydactyly
Gurrieri, F, Steindl, K, Giglio, S, Neri, G
Published in American journal of medical genetics (15.04.2001)
Published in American journal of medical genetics (15.04.2001)
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Journal Article