-
1
المؤلفون: Haseena Sait, Somya Srivastava, Manmohan Pandey, Deepak Ravichandran, Anju Shukla, Kausik Mandal, Deepti Saxena, Arya Shambhavi, Purvi Majethia, Lakshmi Priya Rao, Suvasini Sharma, Shubha R. Phadke, Amita Moirangthem
المصدر: neurogenetics. 24:113-127
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8f64095c11b388d4907309e7e427d354Test
https://doi.org/10.1007/s10048-023-00712-0Test -
2
المصدر: American Journal of Medical Genetics Part A. 191:864-869
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::06828038c609639f7f94239798f47861Test
https://doi.org/10.1002/ajmg.a.63084Test -
3
المؤلفون: Arya Shambhavi, Amita Moirangthem, Deepti Saxena, Shubha R. Phadke
المصدر: American Journal of Medical Genetics Part A. 185:982-985
مصطلحات موضوعية: business.industry, Koolen De Vries syndrome, Genetics, Medicine, business, Genetics (clinical), Genealogy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::08de64e137ea711e377a13bef3e34940Test
https://doi.org/10.1002/ajmg.a.62008Test -
4
المؤلفون: Suzena Masih, Amita Moirangthem, Arya Shambhavi, Archana Rai, Kausik Mandal, Deepti Saxena, Mayank Nilay, Neha Agrawal, Somya Srivastava, Haseena Sait, Shubha R. Phadke
المصدر: European journal of medical genetics. 65(6)
مصطلحات موضوعية: Neurodevelopmental Disorders, Exome Sequencing, Genetics, Microcephaly, Humans, India, Exome, Genes, Recessive, General Medicine, Genetics (clinical), Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97191bd68e94ca669866002a07fa642eTest
https://pubmed.ncbi.nlm.nih.gov/35568357Test -
5
المؤلفون: Mayank Nilay, Deepti Saxena, Suzena Masih, Shubha R. Phadke, Arya Shambhavi, Amita Moirangthem
المصدر: Clinical dysmorphology. 31(2)
مصطلحات موضوعية: Infantile encephalopathy, medicine.medical_specialty, Methylenetetrahydrofolate reductase deficiency, Homocystinuria, Gastroenterology, Pathology and Forensic Medicine, Leukoencephalopathy, Internal medicine, Medicine, Humans, Genetics (clinical), Methylenetetrahydrofolate Reductase (NADPH2), biology, business.industry, Spastic paraparesis, General Medicine, medicine.disease, Phenotype, Betaine, Folic acid, Muscle Spasticity, Methylenetetrahydrofolate reductase, Pediatrics, Perinatology and Child Health, biology.protein, Anatomy, Nervous System Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::935db431112d9d120b7e23cd7a855b34Test
https://pubmed.ncbi.nlm.nih.gov/34845156Test -
6
المؤلفون: Priyanka Srivastava, Poonam Singh Gambhir, Neha Agrawal, Arya Shambhavi, Kausik Mandal, Sheela Nampoothiri, Deepti Saxena, Amita Moirangthem, Shubha R. Phadke
المصدر: American journal of medical genetics. Part AREFERENCES. 185(8)
مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Copy Number Variations, Genotype, India, Disease, Gigantism, Genetic Heterogeneity, Internal medicine, Intellectual Disability, Intellectual disability, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Growth Charts, Genetics (clinical), Exome sequencing, Alleles, Genetic Association Studies, biology, Sotos syndrome, Genetic heterogeneity, business.industry, Macrocephaly, Facies, Infant, Sequence Analysis, DNA, medicine.disease, NFIX, Magnetic Resonance Imaging, Phenotype, Child, Preschool, biology.protein, Female, Chromosomes, Human, Pair 3, medicine.symptom, Chromosome Deletion, business, Chromosomes, Human, Pair 19
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51feb8c86bee7d29b64c0336b6b55abfTest
https://pubmed.ncbi.nlm.nih.gov/33942996Test -
7
المؤلفون: Krishna Sharan, Anju Shukla, Dong-Kyu Jin, Katta M. Girisha, Mary Mathew, Smrithi Salian, Hitesh Shah, Mohandas Nair, Arya Shambhavi, Sung Yoon Cho
مصطلحات موضوعية: 0301 basic medicine, Genetics, Intron, Biology, medicine.disease, 03 medical and health sciences, Exon, 030104 developmental biology, Giant cell, Dysplasia, Pediatrics, Perinatology and Child Health, Pycnodysostosis, Cathepsin K, medicine, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9d4d647ef438e381de6e38f62cc081Test
https://europepmc.org/articles/PMC5809170Test/