Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Yeole M"'
Autor:
Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., Nair KV; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal., Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi., Barala PK; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi., Pal S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi., Siddiqui S; Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal.
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2024 Oct 01; Vol. 33 (4), pp. 160-166. Date of Electronic Publication: 2024 Jul 16.
Autor:
Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Siddiqui S; Department of Neuro and Vascular Interventional Radiology, Yashoda Hospitals, Hyderabad, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Department of Genetics, College of Medicine & Health Sciences, Sultan Qaboos University Muscat 112, Oman., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep 27, pp. e63892. Date of Electronic Publication: 2024 Sep 27.
Autor:
Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Kopajtich R; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, 81675, Germany., Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Schiff M; Université Paris Cité, Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Filière G2M, Paris, France.; Inserm UMR_S1163, Institut Imagine, Université Paris Cité, Paris, France., Beetz C; Centogene GmbH, Rostock, Germany., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Conway GS; Institute for Women's Health, University College London, London, United Kingdom., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Azzouz H; Service de pédiatrie et des maladies métaboliques héréditaires, CHU la Rabta, 1007 Jabberi, Tunis, Tunisia., Ben Chehida A; Service de pédiatrie et des maladies métaboliques héréditaires, CHU la Rabta, 1007 Jabberi, Tunis, Tunisia., Elmaleh-Bergès M; Service de Radiologie Pédiatrique, Hôpital Robert-Debré, APHP, Paris, France., Glasgow RIC; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 65, Stockholm, Sweden., Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Oláhová M; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK., He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Jenkinson EM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Jahic A; Institute of Diagnostic Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité - Universitätsmedizin Berlin, Berlin, Germany., Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Barzik M; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Urquhart JE; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., O' Sullivan J; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Williams SG; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Bhaskar SS; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Carrera S; Genome Editing Unit, The University of Manchester, Manchester, M13 9PT, UK., Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Ellingford JM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK.; Genomics England, London, UK., Houlden H; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, United Kingdom., Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, The University of Manchester, Manchester, UK., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Taylor RW; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Prokisch H; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, 81675, Germany., O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 21. Date of Electronic Publication: 2024 Aug 21.
Autor:
Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nair KV; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Prasannakumar AP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Chaurasia A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Hunakunti B; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Jadhav N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Farooqui S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kothiwale V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Naik R; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Aroor S; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Lewis L; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Purkayastha J; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat YR; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Praveen BK; Department of Pediatrics, Father Muller Medical College Hospital, Mangalore, India., Yatheesha BL; Paediatric neurology, Dheemahi Child Neurology and Development Center, Shimoga, India., Patil SJ; Division of Medical Genetics, Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., Kamath N; Department of Paediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, India., Siddiqui S; Department of Neuro and Vascular Interventional Radiology, Yashoda Hospitals, Hyderabad, India., Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Suma Genomics Private Limited, Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India.; Department of Genetics, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman., Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 639-654. Date of Electronic Publication: 2024 Feb 19.