المؤلفون: Madhulika Kabra, Ratna Dua Puri, Ishwar C. Verma, Sheela Nampoothiri, Katta M. Girisha, Neerja Gupta, Ishpreet K. Biji, Priya S. Kishnani, Mamta N. Muranjan, Sujatha Jagadeesh, N Vinu, Jyotsna Verma, Jayarekha Raja, Ravinder Makkar, Divya C. Thomas, Nitika Setia, Meenakshi Bhat

المصدر: Neuromuscular Disorders. 31:431-441

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Genotype, Cardiomyopathy, India, Late onset, Disease, Compound heterozygosity, Left ventricular hypertrophy, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Age of Onset, Child, Genetics (clinical), Retrospective Studies, Glycogen Storage Disease Type II, business.industry, Homozygote, Muscle weakness, medicine.disease, Cross-Sectional Studies, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, RNA Splice Sites, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6199f44a124c02bf605eb42732602bTest
https://doi.org/10.1016/j.nmd.2021.02.013Test

المؤلفون: Meenakshi Bhat

المصدر: The International journal of developmental biology. 64(4-5-6)

مصطلحات موضوعية: Male, 0303 health sciences, Embryology, Genetic syndromes, Embryonic Development, Gene Expression Regulation, Developmental, Biology, Congenital Abnormalities, Mesoderm, 03 medical and health sciences, Craniosynostoses, Neural Crest, Face, Humans, Female, Facial development, Medical diagnosis, Neuroscience, 030304 developmental biology, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34fac47ee5f6c6afa1d1d2a8577a6926Test
https://pubmed.ncbi.nlm.nih.gov/32658997Test

المؤلفون: Vinuth N Puttamallesh, Meenakshi Bhat, Sheela Nampoothiri, Sanjeeva Ghanti Narayanachar, Swathi Shetty, Jeevana Praharsha Athota, Kalpana Gowrishankar, Mohammed Oomer Farooque

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, DNA Mutational Analysis, Protein Tyrosine Phosphatase, Non-Receptor Type 11, 030105 genetics & heredity, PTPN11, Cohort Studies, Exon, Noonan syndrome, Hypertelorism, Child, Genetics (clinical), Genetics, Phenotype, Congenital heart defects, Child, Preschool, SHP-2, Female, medicine.symptom, Research Article, Adult, Heart Defects, Congenital, lcsh:Internal medicine, lcsh:QH426-470, Adolescent, India, Short stature, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Germline mutation, medicine, Humans, Family, Genetic Predisposition to Disease, lcsh:RC31-1245, Gene, Genetic Association Studies, Germ-Line Mutation, business.industry, Infant, Newborn, Infant, medicine.disease, Mutational analysis, lcsh:Genetics, 030104 developmental biology, Palpebral fissure, RASopathy, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1d20d9b0e3a09a83df5bf80e4772d0fTest
https://pubmed.ncbi.nlm.nih.gov/32164556Test

المؤلفون: Shwetha Mangalesh, Carol Webers, Noël J.C. Bauer, Bhujang Shetty, Munusamy Sivakumar, Anand Vinekar, Meenakshi Bhat, Chaitra Jayadev, Vasudha Kemmanu

المساهمون: Oogheelkunde, MUMC+: MA UECM Oogartsen MUMC (9), RS: FHML non-thematic output

المصدر: Current Eye Research, 44(8), 901-907. Routledge/Taylor & Francis Group

مصطلحات موضوعية: Male, Fovea Centralis, Visual acuity, genetic structures, Visual Acuity, Fundus (eye), retinal findings, chemistry.chemical_compound, oct, Foveal, VISUAL-ACUITY, External limiting membrane, Child, PREMATURE-INFANTS, FOVEAL DEVELOPMENT, medicine.diagnostic_test, imaging, Sensory Systems, ACCOMMODATION, medicine.anatomical_structure, Child, Preschool, NYSTAGMUS, Female, medicine.symptom, Tomography, Optical Coherence, medicine.medical_specialty, down syndrome, Vision Disorders, Outer plexiform layer, India, Sdoct, RETINOPATHY, MACULAR EDEMA, Ophthalmoscopy, Cellular and Molecular Neuroscience, Asian People, Retinal Diseases, children, Ophthalmology, medicine, Humans, Retina, handheld, business.industry, Infant, Retinal, OCULAR FINDINGS, eye diseases, Cross-Sectional Studies, chemistry, REFRACTIVE ERROR, sense organs, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c8a868a051bf1580635854acd762de3Test
https://cris.maastrichtuniversity.nl/en/publications/0f325614-75f9-4da3-b930-bb91e006249cTest

المؤلفون: Pooja S. Kulshreshtha, Uros Hladnik, Madhuri Maganthi, Himabindu Kodishala, G. N. Sanjeeva, Rohit Kumar R. Marol, Jayarama S. Kadandale, P. Raghupathy, Elisa Lorenzetto, Meenakshi Bhat

المصدر: The Indian Journal of Pediatrics. 84:815-821

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Short stature, Impaired glucose tolerance, Young Adult, 03 medical and health sciences, Informed consent, medicine, Humans, Child, Psychiatry, Genetic testing, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Anthropometry, medicine.disease, Obesity, Uniparental disomy, 030104 developmental biology, Neonatal hypotonia, Molecular Diagnostic Techniques, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Prader-Willi Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad984ac10f4042ab185379b31787300cTest
https://doi.org/10.1007/s12098-017-2386-1Test

المؤلفون: Süleyman Serdar Koca, Sheela Nampoothiri, Meenakshi Bhat, Dhanya Yesodharan, Chandrababu Kk, Jules G. Leroy, Michael J. Friez, Sara Cathey, Mahesh Kappanayil, Andrea Superti-Furga, Nursel Elcioglu, Natasha Radhakrishnan, Mohandas Nair K, Richard M. Pauli, Vinod Krishnan, Sheila Unger, Jayesh Sheth, Francisca Coutinho, Sandra Alves

المصدر: Clinical dysmorphology. 28(1)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Mucolipidosis-IIIαβ, Consanguinity, Clawing of Fingers, GNPTG, Pathology and Forensic Medicine, Cohort Studies, Young Adult, Mucolipidoses, Hypertrophy of Forearm, Genotype, Medicine, Humans, Young adult, Child, Genetics (clinical), business.industry, Mucolipidosis, General Medicine, medicine.disease, Carpal Tunnel Syndrome, Doenças Genéticas, Lysosomal Storage Diseases, Genu Valgum, Phenotype, Rheumatoid arthritis, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Mucolipidosis IIIγ, Female, Anatomy, business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c79709b2bef5c0bbb68f88e53dbdd9Test
https://pubmed.ncbi.nlm.nih.gov/30507725Test

المؤلفون: Sankar V. Hariharan, Kalpana Gowrishankar, M. L. Kulkarni, Anju Shukla, Kavitha Mohanasundaram, Ashwin Dalal, Meenakshi Bhat, Sumita Danda, Anju Gupta, A. Radha Ramadevi, Shubha R. Phadke, Shagun Aggarwal, Katta M. Girisha, Prajnya Ranganath, Akhil Muralidhar Kulkarni, Gandham SriLakshmi Bhavani, Hitesh Shah, Neerja Gupta, Sunita Bijarnia-Mahay, Madhulika Kabra, Sankaralingam Rajeswari, Ratna Dua Puri, Sheela Nampoothiri

المصدر: American Journal of Medical Genetics Part A. 167:2481-2484

مصطلحات موضوعية: Adult, Cartilage, Articular, Male, Heterozygote, Adolescent, Gene Expression, India, Biology, CCN Intercellular Signaling Proteins, Text mining, Genetics, Humans, Atypical phenotype, Family, Genetics (clinical), business.industry, Homozygote, Exons, Introns, Phenotype, Amino Acid Substitution, Mutation, Female, Joint Diseases, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd88dbcc0bd3993164135243f7a5c78aTest
https://doi.org/10.1002/ajmg.a.37164Test

المؤلفون: Swathi Shetty, Sanjeeva Gn, Abhilash Dwarakanathan, Meenakshi Bhat

المصدر: Clinical dysmorphology. 24(4)

مصطلحات موضوعية: Male, Foot Deformities, Congenital, Mutation, Missense, India, Oculodentodigital dysplasia, Pathology and Forensic Medicine, Craniofacial Abnormalities, Medicine, Missense mutation, Humans, Eye Abnormalities, Child, Genetics (clinical), Sequence Deletion, Genetics, business.industry, Tooth Abnormalities, General Medicine, medicine.disease, Deletion mutation, Child, Preschool, Connexin 43, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Syndactyly, Anatomy, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a56a437ecf69203f3fecd18ceb4c1fTest
https://pubmed.ncbi.nlm.nih.gov/26087145Test

المؤلفون: Burjor A. Bharucha, Archana Kher, Sachin Khambadkone, S. F. Irani, K. L. Ratnam, Meenakshi Bhat

المصدر: The Indian Journal of Pediatrics. 60:813-818

مصطلحات موضوعية: Male, musculoskeletal diseases, Axial skeleton, Malsegmentation, Ribs, Short stature, medicine, Humans, Abnormalities, Multiple, Child, Bone Diseases, Developmental, Rib cage, business.industry, Infant, Newborn, Infant, Syndrome, Anatomy, musculoskeletal system, medicine.disease, Spine, Spondylocostal dysostosis, Short trunk, medicine.anatomical_structure, Rib fusion, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, Hemivertebrae, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8760efab30e616d5ca20db7b7adb3cd5Test
https://doi.org/10.1007/bf02751055Test

المؤلفون: Massimo Tatti, Marie T. Vanier, Laura Masuelli, Anna Maria Vaccaro, Rosa Salvioli, Anna Tylki-Szymańska, Meenakshi Bhat, Marialetizia Motta, Susanna Scarpa

مصطلحات موضوعية: Male, Ceramide, Molecular Sequence Data, Intracellular Space, Biology, Ceramides, Saposins, chemistry.chemical_compound, Lysosome, Autophagy, Genetics, medicine, Humans, Amino Acid Sequence, Protein Precursors, Molecular Biology, Genetics (clinical), chemistry.chemical_classification, Prosaposin, Gaucher Disease, Activator (genetics), Lipid metabolism, General Medicine, Fibroblasts, Lipid Metabolism, Glucosylceramidase, Protein Transport, Cholesterol, medicine.anatomical_structure, chemistry, Biochemistry, Mutation, Female, Lysosomes, Glycoprotein, Microtubule-Associated Proteins, Protein Processing, Post-Translational, Cysteine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5086e05316eaec3b849e065820c75b80Test
http://hdl.handle.net/11573/230753Test