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المصدر: Clinical dysmorphology. 31(4)
مصطلحات موضوعية: Glycosylphosphatidylinositols, Pediatrics, Perinatology and Child Health, Homozygote, Mutation, Humans, Membrane Proteins, Epilepsy, Generalized, General Medicine, Anatomy, Genetics (clinical), Pathology and Forensic Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3bb6b0cb064b7d958ac73a4f77acf4e
https://pubmed.ncbi.nlm.nih.gov/35445667 -
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المؤلفون: Michelle C. do Rosario, Greeshma Purushothama, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Katta Mohan Girisha, Anju Shukla
المصدر: Clinical Dysmorphology. 32:112-115
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, General Medicine, Anatomy, Genetics (clinical), Pathology and Forensic Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d43ff2583248396b384590283e9d1d51
https://doi.org/10.1097/mcd.0000000000000452 -
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المؤلفون: Dhanya Lakshmi Narayanan, José Rivera Alvarez, Peggy Tilly, Michelle C. do Rosario, Vivekananda Bhat, Juliette D. Godin, Anju Shukla
المصدر: Journal of Human Genetics. 67:729-733
مصطلحات موضوعية: Male, Neurons, Cerebral Cortex, Mice, Neurodevelopmental Disorders, Intellectual Disability, Genetics, Animals, Kinesins, Axons, Genetics (clinical)
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المؤلفون: Purvi Majethia, Michelle C. Do Rosario, Parneet Kaur, null Karanvir, Raagul Shankar, Suvasini Sharma, Shahyan Siddiqui, Anju Shukla
المصدر: Ann Hum Genet
مصطلحات موضوعية: Epilepsy, Neurodevelopmental Disorders, Intellectual Disability, Muscles, Genetics, Brain, Humans, Atrophy, Article, Genetics (clinical)
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المؤلفون: Michelle C do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, Fang Liu, Talia Oranburg, Ana S A Cohen, Keith A Coffman, Maya R Brown, Kirill Kiselyov, Quinten Waisfisz, Myrthe T Flohil, Shahyan Siddiqui, Jill A Rosenfeld, Alejandro Iglesias, Katta Mohan Girisha, Nicole I Wolf, Quasar Saleem Padiath, Anju Shukla
المساهمون: Human genetics, CCA - Cancer biology and immunology, Pediatrics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Brain, 145(12), 4202-4209. Oxford University Press
do Rosario, M C, Bey, G R, Nmezi, B, Liu, F, Oranburg, T, Cohen, A S A, Coffman, K A, Brown, M R, Kiselyov, K, Waisfisz, Q, Flohil, M T, Siddiqui, S, Rosenfeld, J A, Iglesias, A, Girisha, K M, Wolf, N I, Padiath, Q S & Shukla, A 2022, ' Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy ', Brain, vol. 145, no. 12, pp. 4202-4209 . https://doi.org/10.1093/brain/awac295مصطلحات موضوعية: Zinc, Pelizaeus-Merzbacher Disease, Mutation, Missense, Humans, Membrane Proteins, Neurology (clinical), Myelin Sheath
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d306e82362723d008d9e16b5be0bd2f
https://research.vumc.nl/en/publications/381a9b08-d583-4440-8e24-331163248e70 -
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المؤلفون: Yatheesha Bl, Ali Kumble, Michelle C. do Rosario, Anupriya Kaur, Leslie Lewis, Rajagopal Kadavigere, Ratna Dua Puri, K Shreedhara Avabratha, Sunita Bijarnia Mahay, Girish Subramaniam, Suvasini Sharma, K C Rakshith, Siddaramappa J. Patil, Sheela Nampoothiri, Mahesh Kamate, Shrikiran A, Hitesh Shah, Rajesh Shetty, Katta M. Girisha, Nutan Kamath, Anju Shukla, Shruti Bajaj, Stephanie L. Bielas, Narayanaswami Suresh, Malavika Hebbar, Shivanand Pai, Mamta N. Muranjan, Parneet Kaur, Ramesh Bhat Y, Rathika D. Shenoy, Neethukrishna Kausthubham, Karthik Nair
المصدر: Clin Genet
مصطلحات موضوعية: Population, India, Nervous System Malformations, Article, DNA sequencing, Leukoencephalopathy, Consanguinity, Exome Sequencing, Genotype, Genetics, medicine, Humans, Family, Genetic Predisposition to Disease, Genetic Testing, Medical diagnosis, education, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Genetic testing, Chromosome Aberrations, education.field_of_study, medicine.diagnostic_test, business.industry, Microarray Analysis, medicine.disease, White Matter, Mutation, Cohort, business
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المؤلفون: Aroor Shrikiran, Dhanya Lakshmi Narayanan, Purvi Majethia, Y. Ramesh Bhat, Lakshmi Priya Rao, Anju Shukla, Michelle C. do Rosario, Shruti Pande, Stephanie L. Bielas, Narayanaswamy Suresh, Puneeth H. Somashekar, Suvasini Sharma, Sheela Nampoothiri, Katta M. Girisha, Divya Udyawar, Parneet Kaur, Neethukrishna Kausthubham
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Male, 0301 basic medicine, Multifactorial Inheritance, Genetic testing, Genetic counseling, Quantitative Trait Loci, Genetic Counseling, Penetrance, Consanguinity, Disease, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Genetics, Humans, Mendelian disorders, Genetics (clinical), Polymorphism, Genetic, Health care, Genetic Diseases, Inborn, Retrospective cohort study, Geneticist, Phenotype, Pedigree, 030104 developmental biology, Female
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المؤلفون: Parneet Kaur, Anju Shukla, Dhanya Lakshmi Narayanan, Katta M. Girisha, Michelle C. do Rosario, Rajagopal Kadavigere
المصدر: Clin Genet
مصطلحات موضوعية: 0301 basic medicine, Delayed myelination, Central nervous system, Genomics, 030105 genetics & heredity, Nervous System Malformations, Article, Leukoencephalopathy, White matter, 03 medical and health sciences, Neuroimaging, Central Nervous System Diseases, Leukoencephalopathies, Exome Sequencing, Genetics, Medicine, Humans, Mass Screening, Genetics (clinical), Exome sequencing, business.industry, medicine.disease, Magnetic Resonance Imaging, White Matter, 030104 developmental biology, medicine.anatomical_structure, White matter abnormalities, business, Neuroscience
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::413e35a9d0c11699f8b1cf8f99719189
https://europepmc.org/articles/PMC9951823/ -
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المصدر: Research Journal of Pharmacy and Technology. 13:4231
مصطلحات موضوعية: biology, Botany, Turbinaria ornata, Pharmacology (medical), biology.organism_classification, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), Endophyte
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