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1Academic Journal
المؤلفون: Nirosha Kugalingam, Deepthi de Silva, Hiranya Abeysekera, Sriyani Nanayakkara, Shamala Tirimanne, Vishvanath Chandrasekharan, Pushpa Lalani Jayawardana
المصدر: BMC Ophthalmology, Vol 24, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Retinoblastoma, Staging, Mortality, Early screening for RB, Lag time for tertiary care, Ophthalmology, RE1-994
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2415
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2Academic Journal
المؤلفون: Nirosha Kugalingam, Deepthi De Silva, Hiranya Abeysekera, Sriyani Nanayakkara, Shamala Tirimanne, Dinali Ranaweera, Prashanth Suravajhala, Vishvanath Chandrasekharan
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: Retinoblastoma, Targeted NGS, GRACE-PCR, RB1, Sri Lanka, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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3Academic Journal
المؤلفون: Daham De Silva, Kathleen A. Williamson, Kavinda Chandimal Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva, Harendra De Silva
المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-5 (2018)
مصطلحات موضوعية: Gillespie syndrome, Partial aniridia, Cerebellar hypoplasia, ITPR1 gene, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المؤلفون: Malka Jayathilake, Deepthi De Silva, Romesh Gunasekera
المصدر: International Journal of Scientific and Research Publications (IJSRP). 13:235-244
مصطلحات موضوعية: General Medicine
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المؤلفون: Kortessa Sotiropoulou, Saniye Yumlu, Tomoko Hirano, Michael Maier, Abigail Loh, Peh Fern Ong, Onn Siong Yim, Chunping Liu, Emmanuel Vial, Umut Altunoğlu, Sheela Nampoothiri, Deepthi de Silva, Björn Fischer-Zirnsak, Hülya Kayserili, Poh San Lai, Oliver Dreesen, Kenji Kabashima, Uwe Kornak, Nathalie Escande-Beillard, Bruno Reversade
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المؤلفون: Erica H. Gerkes, Ingo Kurth, Beyhan Tüysüz, Isabel Filges, Martin A. Mensah, Stefan Mundlos, Susanne Markus, Luitgard Graul-Neumann, Wiebke Hülsemann, Daniel Svoboda, Manuel Holtgrewe, Nursel Elcioglu, Marie Coutelier, Almuth Caliebe, Aleksander Jamsheer, Jonas Elsner, Christopher Teller, Stefania Bigoni, Rixa Woitschach, Malte Spielmann, Inga Vater, Jakob Hertzberg, Miriam S. Reuter, Peter Krawitz, Katta M. Girisha, Deepthi De Silva, Denise Horn, André Mégarbané, André Reis, Andreas Busche, Meredith Wilson, Seval Türkmen
المساهمون: Elsner, Jonas, Mensah, Martin A., Holtgrewe, Manuel, Hertzberg, Jakob, Bigoni, Stefania, Busche, Andreas, Coutelier, Marie, de Silva, Deepthi C., Elcioglu, Nursel, Filges, Isabel, Gerkes, Erica, Girisha, Katta M., Graul-Neumann, Luitgard, Jamsheer, Aleksander, Krawitz, Peter, Kurth, Ingo, Markus, Susanne, Megarbane, Andre, Reis, Andre, Reuter, Miriam S., Svoboda, Daniel, Teller, Christopher, Tuysuz, Beyhan, Turkmen, Seval, Wilson, Meredith, Woitschach, Rixa, Vater, Inga, Caliebe, Almuth, Hulsemann, Wiebke, Horn, Denise, Mundlos, Stefan, Spielmann, Malte
المصدر: Human Genetics
HUMAN GENETICS, 140(8), 1229-1239. SPRINGERمصطلحات موضوعية: Male, DISRUPTION, Candidate gene, Ectrodactyly, Duplication, FEATURES, Gene Expression, Expression, Ubiquitin-Activating Enzymes, Gene, Cohort Studies, Features, Genetics (clinical), Original Investigation, Genetics, Patient, Remote, Pedigree, REMOTE, Mutations, EXPRESSION, DNA Copy Number Variations, Limb Deformities, Congenital, Biology, PATIENT, DNA sequencing, ENHANCER, Genetic Heterogeneity, Genetic variation, medicine, Humans, Genetic Testing, ddc:610, Homeodomain Proteins, Base Sequence, Whole Genome Sequencing, MUTATIONS, Genetic heterogeneity, Infant, medicine.disease, GENE, DUPLICATION, Human genetics, HOXD13, Mutation, Disruption, Trinucleotide repeat expansion, Enhancer, Transcription Factors
وصف الملف: application/pdf
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المؤلفون: Deepthi De Silva, Naduviladath Vishvanath Chandrasekharan, Navoda Atapattu, Pyara Rathnayake, Nirosha Panchananthan
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, medicine.diagnostic_test, medicine, Sri lanka, Biology, Psychiatry, Genetic testing
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المصدر: Sri Lanka Journal of Child Health. 51:142
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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المؤلفون: Aleksander Jamsheer, Stefan Mundlos, Laure Bosquillon de Jarcy, Anna Sowińska-Seidler, Lila Allou, Meredith Wilson, Barbara Oehl-Jaschkowitz, Magdalena Socha, Idit Maya, Roger Mountford, Denise Horn, Malte Spielmann, Wiebke Hülsemann, Johannes Wagner, Fernando Santos-Simarro, Bjørt K Kragesteen, Eva Klopocki, Pablo Lapunzina, Guntram Borck, Lars Wittler, Ingo Kurth, Denis Duboule, Alan Fryer, Deepthi De Silva, Bénédicte Mascrez, Ricarda Flöttmann, Sinje Geuer
المصدر: GENETICS IN MEDICINE
مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, Genome-wide association study, Biology, Genome, Gene dosage, Phenotype, 03 medical and health sciences, 030104 developmental biology, mental disorders, CRISPR, Copy-number variation, Enhancer, Gene, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: B. C. Lakmini, Deepthi De Silva, D. S. Gamage, B. P. Gunasekara, N. Atapattu
المصدر: Sri Lanka Journal of Diabetes Endocrinology and Metabolism. 11:47
مصطلحات موضوعية: Delayed puberty, Infertility, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, nutritional and metabolic diseases, Type 2 diabetes, medicine.disease, Short stature, Hypotonia, nervous system diseases, Growth hormone deficiency, Endocrinology, Internal medicine, medicine, Precocious puberty, medicine.symptom, Genomic imprinting, business
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المؤلفون: Felix Kunz, Angelika Stellzig-Eisenhauer, Alina T. Midro, Yeliz Güven, Martin Zenker, Hülya Kayserili, Sriyani Basnayake, Deepthi De Silva, Agnès Bloch-Zupan, Denny Schanze, Jan Borys
مصطلحات موضوعية: Cryptophthalmos, Adult, Male, Taurodontism, Adolescent, Dentistry, Nerve Tissue Proteins, Anodontia, stomatognathic system, Radiography, Panoramic, Genetics, medicine, Humans, ddc:610, Congenital Malformation Syndrome, Tooth Root, Child, Fraser syndrome, Genetics (clinical), Tooth Crown, Extracellular Matrix Proteins, business.industry, medicine.disease, Dental crowding, Incisor, Hypodontia, stomatognathic diseases, Diastema, Female, business, Carrier Proteins, Fraser Syndrome, Malocclusion
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::803beb0f6ed17f1cef774a7fb8c55f57
https://nbn-resolving.org/urn:nbn:de :bvb:20-opus-216147 -
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المؤلفون: Ksh de Silva, Sumudu N. Seneviratne, Helen L Storr, Deepthi de Silva, Piumi Kuruppu, Emily Cottrell
المصدر: Bone Abstracts.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Medicine, General Medicine, medicine.symptom, business, Growth hormone, Short stature
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المؤلفون: Tania Warnakularuriya, Kushan Madagoda, Niranga Manjuri Devanarayana, D.C. Kottahachchi, Bktpi Dayanath, S. Siyambalapitiya, Deepthi De Silva, Dilesha Wadasinghe
المصدر: Journal of the Endocrine Society. 5:A494-A494
مصطلحات موضوعية: endocrine system, medicine.anatomical_structure, Endocrinology, Diabetes and Metabolism, Environmental health, Thyroid, medicine, Biology, Sri lanka
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المؤلفون: Faheema Kaleel, Romesh Gunasekera, Deepthi De Silva
المصدر: Sri Lanka Journal of Child Health. 50:170
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Medicine, business, medicine.disease, Nail patella syndrome, Surgery
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المؤلفون: Andrew P. Jackson, Martin A M Reijns, Louise S. Bicknell, Žygimantė Tarnauskaitė, Jennie E. Murray, Angela L. Duker, Carol Wise, David Sillence, Michael B. Bober, Clare V. Logan, Deepthi De Silva, David A. Parry, Joseph A. Marsh, Olga Murina
المصدر: Human Mutation
Tarnauskaitė, Ž, Bicknell, L S, Marsh, J A, Murray, J E, Parry, D A, Logan, C V, Bober, M B, de Silva, D C, Duker, A L, Sillence, D, Wise, C, Jackson, A P, Murina, O & Reijns, M A M 2019, ' Biallelic variants in DNA2 cause microcephalic primordial dwarfism ', Human Mutation, vol. 40, no. 8, pp. 1063-1070 . https://doi.org/10.1002/humu.23776مصطلحات موضوعية: Male, Models, Molecular, Adolescent, DNA repair, growth, microcephalic primordial dwarfism, Mutation, Missense, Dwarfism, DNA replication, Polymorphism, Single Nucleotide, 03 medical and health sciences, chemistry.chemical_compound, DNA2, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Gene, Alleles, Genetics (clinical), 030304 developmental biology, 0303 health sciences, biology, Brief Report, 030305 genetics & heredity, DNA Helicases, Genetic Variation, Helicase, Middle Aged, medicine.disease, Introns, Mutagenesis, Insertional, chemistry, RNA splicing, Microcephaly, biology.protein, Brief Reports, Female, Primordial dwarfism, Adenosine triphosphate
وصف الملف: application/pdf
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المؤلفون: Damien Bonnet, Paul Coucke, David R. Deyle, Mohammed Z. Haider, Fahrettin Uysal, Eudice E. Fontenot, Inge De Wandele, Margot A. Cousin, Waheed Al-Manea, Sehime Gulsun Temel, Massimiliano Rossi, Fabienne Giuliano, Sofie De Schepper, Joshua S. Hardin, Mazen Al-Essa, Ergun Cil, N Canham, Majed Dasouki, Harry C. Dietz, Juliette Albuisson, Pamela Moceri, Sophie Dupuis-Girod, Koenraad Devriendt, David Warner, Bart Loeys, Özlem M. Bostan, Andrea Taylor, Neus Baena, Elise Schaefer, Sheela Nampoothiri, Eric W. Klee, Karin Pichler, Elaine C. Davis, Andy Willaert, Odile Boute, Tiffany Busa, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Manuel F. Landecho, Shehla Mohammed, Yuri A. Zarate, Maria Ramos-Arroyo, Tom R. Collins, Aude Beyens, Stanislas Lyonnet, Laura Muiño-Mosquera, Uwe Kornak, Marine Vanhomwegen, Helen Michael, Anna Rajeb, Mohammed Zain Seidahmed, Anne De Paepe, Deepthi De Silva, Bert Callewaert, Elisabeth Steichen-Gersdorf, Lut Van Laer, Annekatrien Boel, Anne Legrand, Xavier Jeunemaitre, Lionel Van Maldergem, Katrina Prescott, Mustafa A. Salih, Julie De Backer
المصدر: Genetics in Medicine
مصطلحات موضوعية: medicine.medical_specialty, Arterial tortuosity syndrome, business.industry, Published Erratum, MEDLINE, medicine.disease, Human genetics, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, medicine, Intensive care medicine, business, 030217 neurology & neurosurgery, Genetics (clinical)
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المؤلفون: Nicole Revencu, Jill E. Urquhart, Deepthi De Silva, Sheela Nampoothiri, Sanjeev S. Bhaskar, Simon G. Williams, Jill Clayton-Smith, Elena Chervinsky, Mohnish Suri, Rebecca Roberts, Stavit A. Shalev, Yves Sznajer, Romesh Gunasekera, Jamie M Ellingford
المصدر: American Journal of Medical Genetics Part A. 170:1216-1224
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Genetic heterogeneity, 3MC syndrome, business.industry, Genitourinary Tract Anomalies, 030105 genetics & heredity, medicine.disease_cause, medicine.disease, 03 medical and health sciences, Postnatal growth deficiency, 030104 developmental biology, medicine, Tail, Hypertelorism, medicine.symptom, business, Genetics (clinical), Michels syndrome
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المؤلفون: Fernando Santos-Simarro, Abhimanyu Garg, Zohreh Kavehmanesh, Loreta Cimbalistiene, Deepthi De Silva, Maya Chopra, P Hilbert, Sara Dastmalchian, Felicity Collins, H. Bakhti, Farhad Salehzadeh, L. Van Maldergem, Alireza Haghighi, Siham Al-Sinani
المصدر: Clinical Genetics. 89:434-441
مصطلحات موضوعية: 0301 basic medicine, Hypertrichosis, medicine.medical_specialty, Anemia, Generalized lipodystrophy, Genetic counseling, BSCL2, Biology, medicine.disease, Gastroenterology, Muscle hypertrophy, Congenital generalized lipodystrophy, 03 medical and health sciences, 030104 developmental biology, Endocrinology, Internal medicine, Breast enlargement, Genetics, medicine, Genetics (clinical)
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المؤلفون: Uwe Kornak, Fabienne Giuliano, Aude Beyens, Mustafa A. Salih, Massimiliano Rossi, Marine Vanhomwegen, Lut Van Laer, Fahrettin Uysal, Koenraad Devriendt, David R. Deyle, Mohammed Z. Haider, Elise Schaefer, Tom R. Collins, Annekatrien Boel, Mazen Al-Essa, Elaine C. Davis, Elisabeth Steichen-Gersdorf, Ergun Cil, Eudice E. Fontenot, Andy Willaert, Bart Loeys, Eric W. Klee, Björn Fischer-Zirnsak, Joshua S. Hardin, Sophie Dupuis-Girod, N Canham, Majed Dasouki, Harry C. Dietz, Laura Muiño-Mosquera, Yuri A. Zarate, Karin Pichler, Xavier Jeunemaitre, Neus Baena Diez, Maria Ramos-Arroyo, Damien Bonnet, Paul Coucke, Waheed Al-Manea, Anne De Paepe, Tiffany Busa, Anna Rajeb, Shehla Mohammed, Odile Boute, Sofie De Schepper, Mohammed Zain Seidahmed, Juliette Albuisson, Andrea Taylor, Deepthi De Silva, Inge De Wandele, Helen Michael, Margot A. Cousin, Sehime Gulsun Temel, Pamela Moceri, Julie De Backer, Lionel Van Maldergem, Stanislas Lyonnet, Özlem M. Bostan, Katrina Prescott, Bert Callewaert, Anne Legrand, David Warner, Sheela Nampoothiri, Alper Gezdirici, Jamal Ghoumid, Manuel F. Landecho
المصدر: Genetics in Medicine
Genetics in medicineمصطلحات موضوعية: 0301 basic medicine, Marfan syndrome, Adult, Joint Instability, Male, Connective Tissue Disorder, Pathology, medicine.medical_specialty, Arterial tortuosity syndrome, Adolescent, Vascular Malformations, Biopsy, Perforation (oil well), Glucose Transport Proteins, Facilitative, Smad2 Protein, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Aneurysm, Transforming Growth Factor beta, medicine, Humans, Diaphragmatic hernia, Child, Genetics (clinical), Vascular tissue, Aorta, Skin, Hernia, Diaphragmatic, Respiratory Distress Syndrome, Newborn, biology, business.industry, Connective Tissue Growth Factor, Infant, Skin Diseases, Genetic, Arteries, medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, biology.protein, Female, Human medicine, business, Elastin
وصف الملف: Print-Electronic; application/pdf
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