Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Autor: Neuhaus C; Bioscientia Center for Human GeneticsIngelheimGermany., Eisenberger T; Bioscientia Center for Human GeneticsIngelheimGermany., Decker C; Bioscientia Center for Human GeneticsIngelheimGermany., Nagl S; Bioscientia Center for Human GeneticsIngelheimGermany., Blank C; Bioscientia Center for Human GeneticsIngelheimGermany., Pfister M; HNO-Praxis SarnenSarnenSwitzerland.; Molecular Genetics, THRCDepartment of OtolaryngologyUniversity of TübingenTübingenGermany., Kennerknecht I; Institute of Human GeneticsWestfälische Wilhelms-UniversitätMünsterGermany., Müller-Hofstede C; Institute of Human GeneticsWestfälische Wilhelms-UniversitätMünsterGermany., Charbel Issa P; Department of OphthalmologyUniversity of BonnBonnGermany.; Center for Rare Diseases Bonn (ZSEB)University of BonnBonnGermany.; Oxford Eye HospitalUniversity of OxfordOxfordUK., Heller R; Institute of Human GeneticsUniversity Hospital of CologneCologneGermany., Beck B; Institute of Human GeneticsUniversity Hospital of CologneCologneGermany., Rüther K; Sankt Gertrauden-KrankenhausBerlinGermany., Mitter D; Institute of Human GeneticsUniversity of Leipzig Hospitals and ClinicsLeipzigGermany., Rohrschneider K; Department of OphthalmologyUniversity of HeidelbergHeidelbergGermany., Steinhauer U; CölbeCölbeGermany., Korbmacher HM; Department of OrthodonticsGiessen and Marburg University Hospital, Marburg CampusMarburgGermany., Huhle D; Praxis für Humangenetik LeipzigLeipzigGermany., Elsayed SM; Medical Genetics CenterCairoEgypt.; Children's HospitalAin Shams UniversityCairoEgypt., Taha HM; Children's HospitalAin Shams UniversityCairoEgypt., Baig SM; Human Molecular Genetics LaboratoryHealth Biotechnology DivisionNational Institute for Biotechnology and Genetic Engineering (NIBGE)FaisalabadPakistan., Stöhr H; Department of Human GeneticsUniversity Medical Center RegensburgRegensburgGermany., Preising M; Department of OphthalmologyJustus-Liebig-University GiessenGiessenGermany., Markus S; MVZ Dr. Staber und Kollegen GmbHRegensburgGermany., Moeller F; Department of Cell and Matrix BiologyInstitute of Zoology, Johannes GutenbergUniversity of MainzMainzGermany., Lorenz B; Department of OphthalmologyJustus-Liebig-University GiessenGiessenGermany., Nagel-Wolfrum K; Department of Cell and Matrix BiologyInstitute of Zoology, Johannes GutenbergUniversity of MainzMainzGermany., Khan AO; Division of Pediatric OphthalmologyKing Khaled Eye Specialist HospitalRiyadhSaudi Arabia.; Eye InstituteCleveland ClinicAbu DhabiUAE., Bolz HJ; Bioscientia Center for Human GeneticsIngelheimGermany.; Institute of Human GeneticsUniversity Hospital of CologneCologneGermany.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2017 Jul 06; Vol. 5 (5), pp. 531-552. Date of Electronic Publication: 2017 Jul 06 (Print Publication: 2017).

Long-term evaluation of orofacial function in children with Down syndrome after treatment with a stimulating plate according to Castillo Morales.

Autor: Korbmacher HM; Department of Orthodontics, College of Dentistry, University Medical Center Hamburg Eppendorf, Germany. Korbmacher@uke.uni-hamburg.de, Limbrock JG, Kahl-Nieke B

Publikováno v: The Journal of clinical pediatric dentistry [J Clin Pediatr Dent] 2006 Summer; Vol. 30 (4), pp. 325-8.