Long-term discolouration modelling for cast iron mains.

Autor: Al-Saffar, M.¹ (AUTHOR) manarsaffar12@googlemail.com, Husband, S.² (AUTHOR)

Publikováno v: Urban Water Journal. Oct2020, Vol. 17 Issue 8, p696-703. 8p.

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.

Autor: Schneider R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Shril S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Buerger F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Deutsch K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Yousef K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Frank CN; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Onuchic-Whitford AC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Division of Renal Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kitzler TM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Mao Y; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Klämbt V; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Zahoor MY; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore 54000, Pakistan., Lemberg K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Mansour B; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Saida K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Seltzsam S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn D-53113, Germany., Merz LM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Department of Pediatrics, University Hospital Leipzig, Leipzig 04103, Germany., Mertens ND; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hermle T; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Mann N; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Pantel D; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Human Genetics, Heidelberg University, Heidelberg 69117, Germany., Halawi AA; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Bao A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Schierbaum L; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Schneider S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Salmanullah D; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Ben-Dov IZ; Department of Nephrology and Hypertension, Hadassah Medical Center and the Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Sagiv I; Department of Nephrology and Hypertension, Hadassah Medical Center and the Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Eid LA; Pediatric Nephrology Department, Dubai Hospital, Dubai 14660, United Arab Emirates., Awad HSH; Pediatric Nephrology Department, Dubai Hospital, Dubai 14660, United Arab Emirates., Al Saffar M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Department of Pediatrics, United Arab Emirates University, Abu Dhabi 15551, United Arab Emirates., Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt.; Egyptian Group for Orphan Renal Diseases (EGORD), Cairo 11451, Egypt., Nabhan MM; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia., Kari JA; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia., El Desoky S; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia., Shalaby MA; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia., Ooda S; Experimental and Clinical Internal Medicine Department, Medical Research Institute, Alexandria University, Alexandria 21511, Egypt., Fathy HM; Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria 21526, Egypt., Mane S; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA., Somers MJG; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Publikováno v: Genes & diseases [Genes Dis] 2024 Mar 28; Vol. 12 (2), pp. 101280. Date of Electronic Publication: 2024 Mar 28 (Print Publication: 2025).

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The Role of Biomarkers in Diagnosis, Prognosis, Treatment, Determining Disease Activity in Rheumatoid Arthritis.

Autor: Saffar, M.¹, Alipanah, H², Ataollahi, M. R.³ ataollahimr@gmail.com

Publikováno v: Journal of Fasa University of Medical Sciences. Winter2019, Vol. 9 Issue 4, p1682-1692. 11p.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Autor: Akula SK; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Harvard-MIT MD/PhD Program, Harvard Medical School, Boston, Massachusetts., Chen AY; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Division of Rheumatology, Hospital for Special Surgery, New York, New York., Neil JE; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Shao DD; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Mo A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Hylton NK; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Harvard-MIT MD/PhD Program, Harvard Medical School, Boston, Massachusetts., DiTroia S; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Ganesh VS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Smith RS; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois., O'Kane K; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Yeh RC; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Marciano JH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Kirkham S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Kenny CJ; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Song JHT; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Al Saffar M; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Department of Genetics and Genomics, United Arab Emirates University, United Arab Emirates., Millan F; GeneDx, Gaithersburg, Maryland., Harris DJ; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Murphy AV; Division of Medical Genetics, Our Lady of the Lake Health System, Baton Rouge, Louisiana., Klemp KC; Division of Medical Genetics, Department of Pediatrics Saint Louis University School of Medicine, St Louis, Missouri., Braddock SR; Division of Medical Genetics, Department of Pediatrics Saint Louis University School of Medicine, St Louis, Missouri., Brand H; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Wong I; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Talkowski ME; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., O'Donnell-Luria A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Lai A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Hill RS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Mochida GH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Doan RN; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts., Barkovich AJ; Benioff Children's Hospital, Departments of Radiology, Pediatrics, Neurology, and Neurological Surgery, University of California, San Francisco, San Francisco., Yang E; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts., Amrom D; Neurogenetics Unit, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Department of Neurology, Queen Fabiola Children's University Hospital, Brussels, Belgium.; Pediatric Neurology Unit, Centre Hospitalier de Luxembourg, Grand-Duchy of Luxembourg., Andermann E; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Pediatric Neurology Unit, Centre Hospitalier de Luxembourg, Grand-Duchy of Luxembourg.; Epilepsy Research Group, Montreal Neurological Hospital and Institute, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Poduri A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Walsh CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Harvard-MIT MD/PhD Program, Harvard Medical School, Boston, Massachusetts.; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

Publikováno v: JAMA neurology [JAMA Neurol] 2023 Sep 01; Vol. 80 (9), pp. 980-988.