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218 results

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Page 1
Showing results for rohrbach m
Search for Mohrbach M instead (1 results)
The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Among authors: rohrbach m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: rohrbach m. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
The Ehlers-Danlos syndromes, rare types.
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. Brady AF, et al. Among authors: rohrbach m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306225 Review.
Epidemiology of mucopolysaccharidoses.
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Khan SA, et al. Among authors: rohrbach m. Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26. Mol Genet Metab. 2017. PMID: 28595941 Free PMC article.
Sestrin2 drives ER-phagy in response to protein misfolding.
De Leonibus C, Maddaluno M, Ferriero R, Besio R, Cinque L, Lim PJ, Palma A, De Cegli R, Gagliotta S, Montefusco S, Iavazzo M, Rohrbach M, Giunta C, Polishchuk E, Medina DL, Di Bernardo D, Forlino A, Piccolo P, Settembre C. De Leonibus C, et al. Among authors: rohrbach m. Dev Cell. 2024 Aug 19;59(16):2035-2052.e10. doi: 10.1016/j.devcel.2024.07.004. Epub 2024 Aug 1. Dev Cell. 2024. PMID: 39094564 Free PMC article.
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome.
Rohrbach M, Giunta C. Rohrbach M, et al. 2000 Feb 2 [updated 2024 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Feb 2 [updated 2024 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301635 Free Books & Documents. Review.
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome.
Giunta C, Rohrbach M, Fauth C, Baumann M. Giunta C, et al. Among authors: rohrbach m. 2019 May 23. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 May 23. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31132235 Free Books & Documents. Review.
Anti-neutrophil cytoplasmic autoantibodies.
Specks U, Rohrbach MS, DeRemee RA. Specks U, et al. Among authors: rohrbach ms. N Engl J Med. 1988 Nov 24;319(21):1416-7. doi: 10.1056/NEJM198811243192114. N Engl J Med. 1988. PMID: 3185657 No abstract available.
218 results