Wissenschaftliche Publikationen Suche Suche Autor/in Forschungsgruppe Veröffentlichungsdatum Wirkungsfaktor Suchen Sortieren nach RelevanceFrom A-ZAuthored onDate/Time RangeRelease date Reihenfolge AufsteigendAbsteigend Acevedo Ochoa, Ernesto (1) Adami, Eleonora Dr. (19) Ahmad, Ata Ul Wakeel (1) Aigner, Denise (1) Akalin, Altuna Dr. (73) Akmeric, Emir Bora (2) Albrecht, Jan Philipp (5) Alenina, Natalia Dr. (174) Ali, Mohammed Ahmed Khallaf Dr. (1) Alp, Keziban Merve (3) Anandakumar, Harithaa (2) Annibale, Paolo Dr. (25) Apaydin, Onur (2) Arnau Soler, Aleix Dr. (5) Bachtler, Barbara (1) Bader, Michael Prof. Dr. (687) Badillo Lisakowski, Victor Christian Dr. (3) Bahr, Lina Samira Dr. (2) Bähring, Sylvia Dr. (51) Bahry, Ella Dr. (3) Barke, Niclas (1) Bartels-Klein, Eireen (9) Bartolomaeus, Hendrik (22) Bartolomaeus, Theda (15) Baumann, Elisabeth (4) Bayram, Safak (3) Begay-Müller, Valerie Dr. (23) Beier, Christin (1) Bemmann, Franziska (1) Benlasfer, Nouhad (2) Bernert, Carola (4) Berruezo Llacuna, Maria (2) Beule, Dieter Dr. (89) Birchmeier, Walter Prof. Dr. (206) Birchmeier-Kohler, Carmen Prof. Dr. (173) Birkner, Till (10) Birol, Melissa Dr. (12) Blachut, Susanne (6) Blankenstein, Thomas Prof. Dr. (179) Blume, Alexander Dr. (8) Blüthgen, Nils (21) Bock-Bierbaum, Tobias Dr. (5) Bonsor, Megan (1) Born, Gabriele (1) Borodina, Tatiana Dr. (10) Bosco, Bartolomeo Dr. (1) Bouman, Brigitte Joanne (2) Braeuning, Caroline (6) Brouwer-Lehmitz, Antje Susan (1) Brüning, Ulrike Dr. (4) Bunina, Daria Dr. (11) Bunse, Mario Dr. (16) Burkert, Christian Martin (3) Cakmak-Görür, Nese Dr. (2) Cano Rincon, Elena Dr. (8) Carneiro Raimundo, Sandra Cristina Dr. (1) Carvalho, Silvia Filipa (2) Castilho de Barros, Carlos Prof. Dr. (6) Cerda Esteban, Nuria Dr. (3) Cerda Jara, Cledi Alicia (3) Cetin, Ali Osman (1) Chakrabarti, Sampurna Dr. (3) Chekulaeva, Marina Dr. (21) Chen, Chia-Yu (5) Chen, Wei Prof. Dr. (146) Chu, Van Trung Dr. (22) Chu, Xiaofeng (1) Cibin, Penelope (1) Clauß, Julian (2) Cöl Arslan, Seda Dr. (7) Collins, Russell Thomas Dr. (8) Conrad, Thomas Dr. (16) Coralluzzo, Violeta (1) Coscia, Fabian Dr. (26) Costanza, Mariantonia Dr. (5) Crocini, Claudia Dr. (3) Dahlmann, Mathias Dr. (29) Dang Ngoc, Tu Dr. (2) Daniel, Peter Prof. Dr. (100) Dartsch, Josephine (7) Daumke, Oliver Prof. Dr. (92) Dechend, Ralf Priv. 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September 2017 / Mol Genet Genomic Med Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome S. Moosa J. Altmüller T. Lyngbye R. Christensen Y. Li P. Nürnberg G. Yigit I. Vogel B. Wollnik 01. April 2017 / Am J Med Genet A Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2 S. Moosa A. Haagerup P.A. Gregersen K.K. Petersen J. Altmüller H. Thiele P. Nürnberg T.J. Cho O.H. Kim G. Nishimura B. Wollnik I. Vogel 01. September 2017 / Clin Genet Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum S. Moosa B. Loeys J. Altmüller G. Mortier P. Nürnberg Y. Li B. Wollnik I. Vogel 01. März 2017 / Eur J Cancer Prev The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer G. Neidhardt A. Becker J. Hauke J. Horváth N. Bogdanova Markov S. Heilmann-Heimbach H. Hellebrand H. Thiele J. Altmüller P. Nürnberg A. Meindl K. Rhiem B. Blümcke B. Wappenschmidt R.K. Schmutzler E. Hahnen 01. September 2017 / JAMA Oncol Association between loss-of-function mutations within the FANCM gene and early-onset familial breast cancer G. Neidhardt J. Hauke J. Ramser E. Groß A. Gehrig C.R. Müller A.K. Kahlert K. Hackmann E. Honisch D. Niederacher S. Heilmann-Heimbach A. Franke W. Lieb H. Thiele J. Altmüller P. Nürnberg K. Klaschik C. Ernst N. Ditsch F. Jessen A. Ramirez B. Wappenschmidt C. Engel K. Rhiem A. Meindl R.K. Schmutzler Eric Hahnen 01. November 2017 / Brain Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features C.E. Niturad D. Lev V.M. Kalscheuer A. Charzewska J. Schubert T. Lerman-Sagie H.Y. Kroes R. Oegema M. Traverso N. Specchio M. Lassota J. Chelly O. Bennett-Back N. Carmi T. Koffler-Brill M. Iacomino M. Trivisano G. Capovilla P. Striano M. Nawara S. Rzonca U. Fischer M. Bienek C. Jensen H. Hu H. Thiele J. Altmüller R. Krause P. May F. Becker R. Balling S. Biskup S.A. Haas P. Nürnberg K.L.I. van Gassen H. Lerche F. Zara S. Maljevic E. Leshinsky-Silver 20. Juni 2017 / eLife Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin L. Paeger I. Karakasilioti J. Altmüller P. Frommolt J. Brüning P. Kloppenburg 03. April 2017 / J Clin Invest Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa D.J. Ralser F.B.Ü. Basmanav A. Tafazzoli J. Wititsuwannakul S. Delker S. Danda H. Thiele S. Wolf M. Busch S.A. Pulimood J. Altmüller P. Nürnberg D. Lacombe U. Hillen J. Wenzel J. Frank B. Odermatt R.C. Betz 08. Januar 2018 / Br J Dermatol Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura D.J. Ralser G.G. Lestringant A. Du-Thanh P. Kokordelis J. Fischer F.B.Ü. Basmanav S. Wolf H. Thiele J. Altmüller P. Nürnberg V. Oji G. Fritz J. Frank R.C. Betz 29. August 2017 / J Vis Exp Chromatin immunoprecipitation (ChIP) protocol for low-abundance embryonic samples R. Rehimi M. Bartusel F. Solinas J. Altmüller A. Rada-Iglesias Seitennummerierung Erste Seite « First Vorherige Seite ‹ Previous … Seite 2 Aktuelle Seite 3 Seite 4 Seite 5 … Nächste Seite Next › Letzte Seite Last »
01. September 2017 / Mol Genet Genomic Med Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome S. Moosa J. Altmüller T. Lyngbye R. Christensen Y. Li P. Nürnberg G. Yigit I. Vogel B. Wollnik
01. April 2017 / Am J Med Genet A Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2 S. Moosa A. Haagerup P.A. Gregersen K.K. Petersen J. Altmüller H. Thiele P. Nürnberg T.J. Cho O.H. Kim G. Nishimura B. Wollnik I. Vogel
01. September 2017 / Clin Genet Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum S. Moosa B. Loeys J. Altmüller G. Mortier P. Nürnberg Y. Li B. Wollnik I. Vogel
01. März 2017 / Eur J Cancer Prev The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer G. Neidhardt A. Becker J. Hauke J. Horváth N. Bogdanova Markov S. Heilmann-Heimbach H. Hellebrand H. Thiele J. Altmüller P. Nürnberg A. Meindl K. Rhiem B. Blümcke B. Wappenschmidt R.K. Schmutzler E. Hahnen
01. September 2017 / JAMA Oncol Association between loss-of-function mutations within the FANCM gene and early-onset familial breast cancer G. Neidhardt J. Hauke J. Ramser E. Groß A. Gehrig C.R. Müller A.K. Kahlert K. Hackmann E. Honisch D. Niederacher S. Heilmann-Heimbach A. Franke W. Lieb H. Thiele J. Altmüller P. Nürnberg K. Klaschik C. Ernst N. Ditsch F. Jessen A. Ramirez B. Wappenschmidt C. Engel K. Rhiem A. Meindl R.K. Schmutzler Eric Hahnen
01. November 2017 / Brain Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features C.E. Niturad D. Lev V.M. Kalscheuer A. Charzewska J. Schubert T. Lerman-Sagie H.Y. Kroes R. Oegema M. Traverso N. Specchio M. Lassota J. Chelly O. Bennett-Back N. Carmi T. Koffler-Brill M. Iacomino M. Trivisano G. Capovilla P. Striano M. Nawara S. Rzonca U. Fischer M. Bienek C. Jensen H. Hu H. Thiele J. Altmüller R. Krause P. May F. Becker R. Balling S. Biskup S.A. Haas P. Nürnberg K.L.I. van Gassen H. Lerche F. Zara S. Maljevic E. Leshinsky-Silver
20. Juni 2017 / eLife Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin L. Paeger I. Karakasilioti J. Altmüller P. Frommolt J. Brüning P. Kloppenburg
03. April 2017 / J Clin Invest Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa D.J. Ralser F.B.Ü. Basmanav A. Tafazzoli J. Wititsuwannakul S. Delker S. Danda H. Thiele S. Wolf M. Busch S.A. Pulimood J. Altmüller P. Nürnberg D. Lacombe U. Hillen J. Wenzel J. Frank B. Odermatt R.C. Betz
08. Januar 2018 / Br J Dermatol Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura D.J. Ralser G.G. Lestringant A. Du-Thanh P. Kokordelis J. Fischer F.B.Ü. Basmanav S. Wolf H. Thiele J. Altmüller P. Nürnberg V. Oji G. Fritz J. Frank R.C. Betz
29. August 2017 / J Vis Exp Chromatin immunoprecipitation (ChIP) protocol for low-abundance embryonic samples R. Rehimi M. Bartusel F. Solinas J. Altmüller A. Rada-Iglesias