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human necessities (31) 31
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1. Self-nanoemulsifying drug delivery systems: Formulation insights, applications and advances
by Date, Abhijit A and Desai, Neha and Dixit, Rahul and Nagarsenker, Mangal
Nanomedicine (London, England), ISSN 1743-5889, 12/2010, Volume 5, Issue 10, pp. 1595 - 1616
solid SNEDDS | self-nanoemulsification | poor bioavailability | SNEDDS | nanoemulsion | oral delivery | Science & Technology - Other Topics | Nanoscience & Nanotechnology | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Nanoparticles - chemistry | Nanotechnology - methods | Drug Delivery Systems - methods | Drug Carriers - chemistry
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2. Full Text Hybrid approach for augmenting the impact resistance of p-aramid fabrics: grafting of ZnO nanorods and impregnation of shear thickening fluid
by Dixit, Priyal and Ghosh, Aranya and Majumdar, Abhijit
Journal of materials science, ISSN 0022-2461, 10/2019, Volume 54, Issue 20, pp. 13106 - 13117
Polymer Sciences | Crystallography and Scattering Methods | Materials Science | Materials Science, general | Solid Mechanics | Classical Mechanics | Characterization and Evaluation of Materials | Technology | Materials Science, Multidisciplinary | Science & Technology | Textile fabrics | Zinc oxide | Silica | Methods | Shear | Kevlar (trademark) | Grafting | Silicon dioxide | Aramid fibers | Impregnation | Armor | Impact resistance | Fabrics | Energy absorption | Shear thickening (liquids) | Nanorods | Thickening
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3. Full Text The phenotype of EZH2 haploinsufficiency1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability
by Suri, Tanay and Dixit, Abhijit
American journal of medical genetics. Part A, ISSN 1552-4825, 10/2017, Volume 173, Issue 10, pp. 2731 - 2735
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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4. Full Text The phenotype of EZH2 haploinsufficiency—1.2‐Mb deletion at 7q36.1 in a child with tall stature and intellectual disability
by Suri, Tanay and Dixit, Abhijit
American journal of medical genetics. Part A, ISSN 1552-4825, 10/2017, Volume 173, Issue 10, pp. 2731 - 2735
Weaver syndrome | haploinsufficiency | 7q36.1 deletion | overgrowth syndrome | EZH2 | Chromosome Deletion | Enhancer of Zeste Homolog 2 Protein - genetics | Phenotype | Humans | Adult | Female | Male | Chromosomes, Human, Pair 7 - genetics | Child | Body Height - genetics | Haploinsufficiency | Intellectual Disability - genetics | Missense mutation | Children | Mutation | Intellectual disabilities | Index Medicus
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5. Full Text Genomic medicine for the paediatrician
by Hastings, Richard and Dixit, Abhijit
Paediatrics and child health, ISSN 1751-7222, 04/2019, Volume 29, Issue 4, pp. 185 - 189
whole genome sequencing | variant | genomics | genetics | Genomics | Birth defects | Genetic aspects | Research | Nucleotide sequencing | Pediatric research | DNA sequencing
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6. Full Text When the face says it all: dysmorphology in identifying syndromic causes of epilepsy
by Dixit, Abhijit and Suri, Mohnish
Practical neurology, ISSN 1474-7758, 04/2016, Volume 16, Issue 2, pp. 111 - 121
Genetic Testing | Face - abnormalities | Humans | Epilepsy - genetics | Female | Male | Syndrome | Epilepsy - diagnosis | Usage | Care and treatment | Dysmorphology | Epilepsy | Genetic screening | Index Medicus
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7. Full Text Renal failure from birth—AKI or CKD? Answers
by Carter, Sean and Dixit, Abhijit and Lunn, Andrew and Deorukhkar, Anjum and Christian, Martin
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 12/2016, Volume 31, Issue 12, pp. 2259 - 2262
Wilms tumour | Pediatrics | Neonatal nephrotic syndrome | Nephrology | Medicine & Public Health | Diffuse mesangial sclerosis | WT1 | c.1097G>A | Denys–Drash syndrome | Urology | p.(Arg366His) | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Renal Insufficiency, Chronic | Renal Insufficiency | Genes, Wilms Tumor | Humans | Denys-Drash Syndrome - genetics | Mutation | WT1 Proteins - genetics | Care and treatment | Diagnosis | Chronic kidney failure | Comparative analysis | Acute renal failure | Index Medicus
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8. Full Text Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
by Antony, Dinu and Becker‐Heck, Anita and Zariwala, Maimoona A and Schmidts, Miriam and Onoufriadis, Alexandros and Forouhan, Mitra and Wilson, Robert and Taylor‐Cox, Theresa and Dewar, Ann and Jackson, Claire and Goggin, Patricia and Loges, Niki T and Olbrich, Heike and Jaspers, Martine and Jorissen, Mark and Leigh, Margaret W and Wolf, Whitney E and Daniels, M. Leigh Anne and Noone, Peadar G and Ferkol, Thomas W and Sagel, Scott D and Rosenfeld, Margaret and Rutman, Andrew and Dixit, Abhijit and O'Callaghan, Christopher and Lucas, Jane S and Hogg, Claire and Scambler, Peter J and Emes, Richard D and UK10K and Chung, Eddie M.K and Shoemark, Amelia and Knowles, Michael R and Omran, Heymut and Mitchison, Hannah M and UK10K and Uk10k
Human mutation, ISSN 1059-7794, 03/2013, Volume 34, Issue 3, pp. 462 - 472
nexin link | CCDC39 | radial spoke | cilia | dynein regulatory complex | primary ciliary dyskinesia | CCDC40 | Nexin link | Primary ciliary dyskinesia | Dynein regulatory complex | Radial spoke | Cilia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cilia - pathology | Cytoskeletal Proteins - genetics | Humans | Male | Kartagener Syndrome - genetics | Microscopy, Electron | Axoneme - genetics | Axoneme - pathology | Cilia - genetics | Exome | Proteins - genetics | Phenotype | Pedigree | Alleles | Fluorescent Antibody Technique | Female | Dyneins - genetics | Mutation | Genetic aspects | Gene mutations | Movement disorders | Genetic screening | Dynein | Defects | Index Medicus
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9. Full Text Renal failure from birth—AKI or CKD? Questions
by Carter, Sean and Dixit, Abhijit and Lunn, Andrew and Deorukhkar, Anjum and Christian, Martin
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 12/2016, Volume 31, Issue 12, pp. 2257 - 2257
Pediatrics | Nephrology | Neonate | Medicine & Public Health | Renal failure | Oliguria | Urology | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Diagnosis, Differential | Fetal Growth Retardation - diagnostic imaging | Humans | Renal Insufficiency, Chronic - diagnostic imaging | Renal Insufficiency - congenital | Renal Insufficiency, Chronic - complications | Renal Insufficiency - etiology | Renal Insufficiency - diagnostic imaging | Pregnancy | Kidney - diagnostic imaging | Acute Kidney Injury - complications | Female | Consanguinity | Acute Kidney Injury - diagnostic imaging | Infant, Newborn | Case studies | Care and treatment | Diagnosis | Chronic kidney failure | Acute renal failure | Index Medicus
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10. Full Text A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
by McEntagart, Meriel and Williamson, Kathleen A and Rainger, Jacqueline K and Wheeler, Ann and Seawright, Anne and De Baere, Elfride and Verdin, Hannah and Bergendahl, L. Therese and Quigley, Alan and Rainger, Joe and Dixit, Abhijit and Sarkar, Ajoy and López Laso, Eduardo and Sanchez-Carpintero, Rocio and Barrio, Jesus and Bitoun, Pierre and Prescott, Trine and Riise, Ruth and McKee, Shane and Cook, Jackie and McKie, Lisa and Ceulemans, Berten and Meire, Françoise and Temple, I. Karen and Prieur, Fabienne and Williams, Jonathan and Clouston, Penny and Németh, Andrea H and Banka, Siddharth and Bengani, Hemant and Handley, Mark and Freyer, Elisabeth and Ross, Allyson and van Heyningen, Veronica and Marsh, Joseph A and Elmslie, Frances and FitzPatrick, David R and DDD Study
American journal of human genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 981 - 992
ACTA2 | iris | cerebellar ataxia | cerebellar hypoplasia | calcium | inositol triphosphate | ITPR1 | aniridia | cerebellar vermis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Inositol 1,4,5-Trisphosphate Receptors - chemistry | Humans | Middle Aged | Aniridia - etiology | Cerebellar Ataxia - etiology | Male | Aniridia - pathology | Adult | Female | Child | Lymphocytes - metabolism | Cells, Cultured | Intellectual Disability - pathology | Cerebellar Ataxia - pathology | Mutation - genetics | Microscopy, Confocal | Lymphocytes - pathology | Animals | Pedigree | Adolescent | Protein Conformation | Mice | Intellectual Disability - etiology | Genes, Dominant - genetics | Inositol 1,4,5-Trisphosphate Receptors - genetics | Causes of | Genetic aspects | Gene mutations | Health aspects | Aniridia | Ataxia | Eye diseases | Genetic disorders | Mutation | Calcium | Genes | Index Medicus | Report
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11. Full Text Clues beyond the lung: an unusual diagnosis in an infant with chronic lung disease
by Walsh, Rachel and Batra, Dushyant and Dixit, Abhijit and Bhatt, Jayesh Mahendra
Breathe (Lausanne, Switzerland), ISSN 1810-6838, 03/2020, Volume 16, Issue 1, pp. 190319 - 190319
Expert Opinion
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12. Full Text Seeing the diagnosis on karyotype-SOX2 and eye development
by Mulvihill, Jennifer and Sarkar, Ajoy and Dixit, Abhijit
Ophthalmic genetics, ISSN 1381-6810, 11/2017, Volume 38, Issue 6, pp. 580 - 583
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13. Full Text Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
by Stals, Karen L and Wakeling, Matthew and Baptista, Júlia and Caswell, Richard and Parrish, Andrew and Rankin, Julia and Tysoe, Carolyn and Jones, Garan and Gunning, Adam C and Lango Allen, Hana and Bradley, Lisa and Brady, Angela F and Carley, Helena and Carmichael, Jenny and Castle, Bruce and Cilliers, Deirdre and Cox, Helen and Deshpande, Charu and Dixit, Abhijit and Eason, Jacqueline and Elmslie, Frances and Fry, Andrew E and Fryer, Alan and Holder, Muriel and Homfray, Tessa and Kivuva, Emma and McKay, Victoria and Newbury‐Ecob, Ruth and Parker, Michael and Savarirayan, Ravi and Searle, Claire and Shannon, Nora and Shears, Deborah and Smithson, Sarah and Thomas, Ellen and Turnpenny, Peter D and Varghese, Vinod and Vasudevan, Pradeep and Wakeling, Emma and Baple, Emma L and Ellard, Sian
Prenatal diagnosis, ISSN 0197-3851, 01/2018, Volume 38, Issue 1, pp. 33 - 43
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Pregnancy | Congenital Abnormalities - genetics | Humans | Parents | Female | Male | Prenatal Diagnosis - methods | Genes, Recessive | Genetic Diseases, Inborn - diagnosis | Whole Exome Sequencing | Parenting | Infants | Pregnant women | Analysis | Patient outcomes | Neonates | Prenatal diagnosis | Fetuses | Disorders | Genetic testing | Diagnosis | Medical diagnosis | Deoxyribonucleic acid--DNA | Genetic screening | DNA sequencing | Gene sequencing | Index Medicus | Special Topic Issue on Advances in the Diagnosis of Single Gene Disorders
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