Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Brunet, T; McWalter, K; Mayerhanser, K; Anbouba, GM; Armstrong-Javors, A; Bader, I; Baugh, E; Begtrup, A; Bupp, CP; Callewaert, BL; Cereda, A; Cousin, MA; Jimenez, JCDR; Demmer, L; Dsouza, NR; Fleischer, N; Gavrilova, RH; Ghate, S; Graf, E; Green, A; Green, SR; Iascone, M; Kdissa, A; Klee, D; Klee, EW; Lancaster, E; Lindstrom, K; Mayr, JA; McEntagart, M; Meeks, NJL; Mittag, D; Moore, H; Olsen, AK; Ortiz, D; Parsons, G; Pena, LDM; Person, RE; Punj, S; Ramos-Rivera, GA; Sacoto, MJG; Bradley Schaefer, G; Schnur, RE; Scott, TM; Scott, DA; Serbinski, CR; Shashi, V; Siu, VM; Stadheim, BF; Sullivan, JA; Švantnerová, J; Velsher, L; Wargowski, DS; Wentzensen, IM; Wieczorek, D; Winkelmann, J; Yap, P; Zech, M; Zimmermann, MT; Meitinger, T; Distelmaier, F; Wagner, M;
Genet Med. 2021; 23(2):384-395
Originalarbeiten (Zeitschrift)

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann, SB; Meunier, B; Mestek-Boukhibar, L; van den Broek, F; Maldonado, EM; Clement, E; Weghuber, D; Spenger, J; Jaros, Z; Taha, F; Yue, WW; Heales, SJ; Davison, JE; Mayr, JA; Rahman, S;
Am J Hum Genet. 2020; 106(2): 256-263.
Originalarbeiten (Zeitschrift)

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Pringsheim, M; Mitter, D; Schroder, S; Warthemann, R; Plumacher, K; Kluger, G; Baethmann, M; Bast, T; Braun, S; Buttel, HM; Conover, E; Courage, C; Datta, AN; Eger, A; Grebe, TA; Hasse-Wittmer, A; Heruth, M; Hoft, K; Kaindl, AM; Karch, S; Kautzky, T; Korenke, GC; Kruse, B; Lutz, RE; Omran, H; Patzer, S; Philippi, H; Ramsey, K; Rating, T; Riess, A; Schimmel, M; Westman, R; Zech, FM; Zirn, B; Ulmke, PA; Sokpor, G; Tuoc, T; Leha, A; Staudt, M; Brockmann, K
ANN CLIN TRANSL NEUR. 2019; 6(4): 655-668.
Originalarbeiten (Zeitschrift)

Emerging techniques in "truly" minimal-invasive treatment options of benign prostatic obstruction.
Sievert, KD; Kunit, T;
Curr Opin Urol. 2017; 27(3): 287-292.
Originalarbeiten (Zeitschrift)

Predicting hand function after hemidisconnection.
Küpper, H; Kudernatsch, M; Pieper, T; Groeschel, S; Tournier, JD; Raffelt, D; Winkler, P; Holthausen, H; Staudt, M;
Brain. 2016; 139(Pt 9):245-268
Originalarbeiten (Zeitschrift)

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency.
Brea-Calvo, G; Haack, TB; Karall, D; Ohtake, A; Invernizzi, F; Carrozzo, R; Kremer, L; Dusi, S; Fauth, C; Scholl-Bürgi, S; Graf, E; Ahting, U; Resta, N; Laforgia, N; Verrigni, D; Okazaki, Y; Kohda, M; Martinelli, D; Freisinger, P; Strom, TM; Meitinger, T; Lamperti, C; Lacson, A; Navas, P; Mayr, JA; Bertini, E; Murayama, K; Zeviani, M; Prokisch, H; Ghezzi, D;
Am J Hum Genet. 2015; 96(2): 309-317.
Originalarbeiten (Zeitschrift)

[Autologous fat grafting in breast surgery : Results of a retrospective study].
Russe, E; Schöller, T; Hussl, H; Pülzl, P; Reichl, H; Ensat, F; Hladik, M; Wechselberger, G;
Chirurg. 2015; 86(5): 476-481.
Originalarbeiten (Zeitschrift)

Posterior circulation ischemia in patients with fetal-type circle of Willis and hypoplastic vertebrobasilar system
Lochner, P; Golaszewski, S; Caleri, F; Ladurner, G; Tezzon, F; Zuccoli, G; Nardone, R
NEUROL SCI. 2011; 32(6): 1143-1146.
Originalarbeiten (Zeitschrift)

Hypoplasia of deep cerebellar nuclei in joubert syndrome.
Kuchukhidze, G; Rauchenzauner, M; Gotwald, T; Janecke, A; Trinka, E;
Pediatr Neurol. 2009; 40(6): 474-476.
Fallberichte

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.
Quintana, E; Mayr, JA; García Silva, MT; Font, A; Tortoledo, MA; Moliner, S; Ozaez, L; Lluch, M; Cabello, A; Ricoy, JR; Koch, J; Ribes, A; Sperl, W; Briones, P;
J Inherit Metab Dis. 2009; 32 Suppl 1: S339-S343.
Fallberichte

Pontine tegmental cap dysplasia: the severe end of the clinical spectrum.
Rauscher, C; Poretti, A; Neuhann, TM; Forstner, R; Hahn, G; Koch, J; Tinschert, S; Boltshauser, E;
NEUROPEDIATRICS. 2009; 40(1): 43-46.
Fallberichte

Transient ischaemic attacks in two cases of internal carotid artery hypoplasia.
Nardone, R; Venturi, A; Ausserer, H; Buffone, E; Covi, M; Lochner, P; Psenner, K; Tezzon, F
NEUROL SCI. 2005; 26(4): 282-284.
Fallberichte

[Early Diagnosis of a Fetal Skeletal Dysplasia Associated with Increased Nuchal Translucency with 2D and 3D Ultrasound].
Clementschitsch, G; Hasenöhrl, G; Steiner, H; Staudach, A;
ULTRASCHALL MED. 2003; 24(5): 349-352.
Fallberichte

Variant of Coffin-Siris syndrome or previously undescribed syndrome?
Braun-Quentin, C; Kapferer, L; Kotzot, D;
Am J Med Genet. 1996; 64(4):568-572
Fallberichte

De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.
Kotzot, D; Krüger, C; Braun-Quentin, C;
Clin Genet. 1996; 50(2):96-98
Fallberichte

[Free microsurgical metatarsal bone transplantation for correction of hypoplasia of the thumb].
Schneider, W; Reichert, B; Pallua, N; Meyer, H;
Handchir Mikrochir Plast Chir. 1994; 26(3):120-125
Originalarbeiten (Zeitschrift)

Correction of hypoplastic thumb by free transfer of metatarsal bone: a case report.
Schneider, W; Reichert, B; Pallua, N; Meyer, H;
Microsurgery. 1993; 14(7):468-471
Fallberichte

[Diagnostic imaging of the brain of blind and visually handicapped young children].
Boltshauser, E; Steinlin, M; Thun-Hohenstein, L; Bänziger, O; Pezzoli, V; Martin, E;
Klin Monbl Augenheilkd. 1992; 200(5): 620-622.
Kurzberichte/Notes

[Congenital oculomotor apraxia. Presentation--developmental problems--differential diagnosis].
Steinlin, M; Thun-Hohenstein, L; Boltshauser, E;
Klin Monbl Augenheilkd. 1992; 200(5): 623-625.
Originalarbeiten (Zeitschrift)