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Green's function form for the dynamic paramagnetic susceptibility of a spin-orbit coupled system.

Autor: Bogdanovic, R., Whitehead, M. A.

Publikováno v: Journal of Chemical Physics; Mar1973, Vol. 58 Issue 5, p1919-1924, 6p

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changes in Schimke immuno-osseous dysplasia?

Autor: Morimoto, M, Yu, ZX, Stenzel, P, Clewing, JM, Najafian, B, Mayfield, C, Hendson, G, Weinkauf, JG, Gormley, AK, Parham, DM, Ponniah, U, Andre, JL, Asakura, Y, Basiratnia, M, Bogdanovic, R, Bokenkamp, A, Bonneau, D, Buck, A, Charrow, J, Cochat, P, Cordeiro, I, Deschenes, G, Fenkci, MS, Frange, P, Frund, S, Fryssira, H, Guillen-Navarro, E, Keller, K, Kirmani, S, Kobelka, C, Lamfers, P, Levtchenko, E, Lewis, DB, Massella, L, McLeod, DR, Milford, DV, Nobili, F, Saraiva, JM, Semerci, CN, Shoemaker, L, Stajic, N, Stein, A, Taha, D, Wand, D, Zonana, J, Lucke, T, Boerkoel, CF

Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2702258ce3ba6587e983173a38b00185
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/13721

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.

Autor: Kitzler TM; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Schneider R; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Kohl S; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Kolvenbach CM; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Connaughton DM; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Dai R; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Mann N; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Nakayama M; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Majmundar AJ; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Wu CW; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Kari JA; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia., El Desoky SM; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia., Senguttuvan P; Department of Pediatric Nephrology, Dr. Mehta's Multi-Specialty Hospital, Chennai, India., Bogdanovic R; Department of Pediatric Nephrology, Institute for Mother and Child Health Care, Belgrade, Serbia., Stajic N; Department of Pediatric Nephrology, Institute for Mother and Child Health Care, Belgrade, Serbia., Valivullah Z; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lek M; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Mane S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Tasic V; University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia., Shril S; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA., Hildebrandt F; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA. friedhelm.hildebrandt@childrens.harvard.edu.

Publikováno v: Human genetics [Hum Genet] 2019 Oct; Vol. 138 (10), pp. 1105-1115. Date of Electronic Publication: 2019 Jun 22.