المؤلفون: Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Tuberous sclerosis complex (TSC), Multiplex ligation dependent probe amplification (MLPA), Central nervous system (CNS), GAP (GTPase-activating protein), HGMD (human gene mutation database), Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0891-y; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/5ebd69bf72a54b7ba23669d521fdf941

المؤلفون: Sudarshan, Shruthi^Aff1, Kumar, Manoj^Aff2, Kaur, Punit^Aff2, Kumar, Atin^Aff3, G., Sethuraman^Aff4, Sapra, Savita^Aff1, Gulati, Sheffali^Aff5, Gupta, Neerja^Aff1, Kabra, Madhulika^Aff1, Roy Chowdhury, Madhumita^Aff1

المصدر: BMC Medical Genetics. 20(1)

المؤلفون: Giancarlo la Marca, Silvia Funghini, Anna Caciotti, Rodolfo Tonin, Amelia Morrone, Sabrina Malvagia, Maria Alice Donati

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100689-(2020)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Newborn screening, Genetic counseling, Physiology, BTD gene, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Biotin, DNA, DeoxyriboNucleic Acid, WISC, Wechsher Intelligence Scale for Children, Genetics, Medicine, Missense mutation, PCR, Polymerase Chain Reaction, Allele, Molecular Biology, Multiple carboxylase deficiency, lcsh:QH301-705.5, C5-OH, 3-OH-isovalerylcarnitine, 0303 health sciences, Biotinidase deficiency incidence, MCD, lcsh:R5-920, business.industry, Biotinidase deficiency, 030305 genetics & heredity, medicine.disease, LC-MS/MS, Liquid Chromatography Tandem Mass Spectrometry, GC–MS, Gas chromatography–mass spectrometry, chemistry, lcsh:Biology (General), IQ, Intelligence Quotient, Biotinidase, DBS, Dried blood spot, HGMD, Human Gene Mutation Database, business, lcsh:Medicine (General), BTD, Biotinidase, 030217 neurology & neurosurgery, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c72a5eb08dfbfc60161e617850d50ffb
http://www.sciencedirect.com/science/article/pii/S221442692030135X

المؤلفون: Dongmei, Yu, Junhuang, Zou, Qian, Chen, Tian, Zhu, Ruifang, Sui, Jun, Yang

المصدر: Computational and Structural Biotechnology Journal

مصطلحات موضوعية: NCBI, National Center for Biotechnology Information, FN3, fibronectin III, Recombinant protein expression, RMSD, root mean square deviation, TM-score, template modeling score, I-TASSER, Iterative Threading ASSEmbly Refinement, Protein folding, LGL, laminin globular-like, RP, retinitis pigmentosa, Structural model, USH, Usher syndrome, ComputingMethodologies_COMPUTERGRAPHICS, LN, laminin N-terminal, Photoreceptor, SMTL, SWISS-MODEL template library, GMQE, global quality estimation score, QSQE, Quaternary Structure Quality Estimation, Cell adhesion, LE, laminin EGF, hFc, human Fc fragment, Retinitis pigmentosa, QMEAN, qualitative model energy analysis score, mFc, mouse Fc fragment, Membrane protein, LG, laminin globular, DCC, deleted in colorectal cancer, Hair cell, HGMD, Human Gene Mutation Database, Usher syndrome, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::35148b337b6fe4f434abb0702c3bbb9e
https://pubmed.ncbi.nlm.nih.gov/32637036

المؤلفون: Atin Kumar, Punit Kaur, Madhumita Roy Chowdhury, Shruthi Sudarshan, G Sethuraman, Savita Sapra, Sheffali Gulati, Neerja Gupta, Manoj Kumar, Madhulika Kabra

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: 0301 basic medicine, lcsh:Internal medicine, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Adolescent, In silico, Mutation, Missense, Computational biology, Tuberous Sclerosis Complex 1 Protein, Central nervous system (CNS), 03 medical and health sciences, 0302 clinical medicine, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Genetics, medicine, Missense mutation, Humans, Computer Simulation, Homology modeling, lcsh:RC31-1245, HGMD (human gene mutation database), Child, Gene, Genetics (clinical), Tuberous sclerosis complex (TSC), Chemistry, Infant, Newborn, Infant, Protein structure prediction, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, TSC1, GAP (GTPase-activating protein), TSC2, Threading (protein sequence), Hydrophobic and Hydrophilic Interactions, 030217 neurology & neurosurgery, Multiplex ligation dependent probe amplification (MLPA), Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e7e68d58533b97de00deafa06edccc9
http://europepmc.org/articles/PMC6815426

المساهمون: Rédei, George P.^Aff1

المصدر: Encyclopedia of Genetics, Genomics, Proteomics and Informatics. :873-873

المؤلفون: S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Meenakshi Bhat, Juby Mathew, Sudha Srinivasan, Sujatha Jagadeesh

المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Arylsulfatase B, ARSB, arylsulfatase B, Population, India, LSD, lysosomal storage disorder, GAG, glycosaminoglycan, Lysosomal storage disorder (LSD), Biology, MPS, mucopolysaccharidosis, medicine.disease_cause, HSCT, hematopoietic stem cell transplantation, Endocrinology, VUS, variants of unknown significance, Genetics, medicine, MPS - Mucopolysaccharidosis, education, Arylsulfatase B (ARSB), lcsh:QH301-705.5, Molecular Biology, Gene, GALNS, N-acetyl galactosamine 6-sulfatase, lcsh:R5-920, education.field_of_study, Mutation, Maroteaux–Lamy syndrome, Active site, Mucopolysaccharidosis VI, medicine.disease, Lysosomal enzyme, ERT, enzyme replacement therapy, lcsh:Biology (General), Inborn error of metabolism (IEM), Inborn error of metabolism, PCT, pharmacological chaperone therapy, HGMD, Human Gene Mutation Database, lcsh:Medicine (General), Mutations, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7118e015b695c28fc964a97d7300e6
https://doi.org/10.1016/j.ymgmr.2015.06.002

المؤلفون: Daniel S. Ory, Xuntian Jiang

المصدر: EBioMedicine
EBioMedicine, Vol 4, Iss C, Pp 18-19 (2016)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Pathology, Vesicular Transport Proteins, lcsh:Medicine, 0302 clinical medicine, Biomarker discovery, education.field_of_study, lcsh:R5-920, Niemann Pick type C, Membrane Glycoproteins, Intracellular Signaling Peptides and Proteins, Niemann-Pick Disease, Type C, Oxysterols, General Medicine, Diagnostic test, 7-KC, 7-ketocholesterol, EVS, exome variant server, Sphingomyelin Phosphodiesterase, 030220 oncology & carcinogenesis, NPC, Niemann Pick type C, Biomarker (medicine), Cholesterol storage, lcsh:Medicine (General), Research Paper, medicine.medical_specialty, Cholestantriol, Population, c-triol/cholestantriol, cholestane-3β,5α,6β-triol, Lysosomal acid lipase deficiency, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Niemann-Pick C1 Protein, Internal medicine, medicine, Humans, CESD, cholesterol ester storage disease, education, Glycoproteins, Newborn screening, Niemann–Pick disease, type C, business.industry, lcsh:R, medicine.disease, 030104 developmental biology, Commentary, ROC, receiver-operating-characteristic, NPC1, HGMD, Human Gene Mutation Database, business, Carrier Proteins, Biomarkers, Cholestanols

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4e024eb37ef1be9db7b645ddaedc0d0
http://europepmc.org/articles/PMC4776064

المؤلفون: Ohata Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kakimoto H; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Seki Y; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Ishihara Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; The first Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Japan.; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Japan., Nakano Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Yamamoto K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan., Takeyari S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Fujiwara M; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; The first Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Japan., Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Takakuwa S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Pediatrics, Hyogo Prefectural Nishinomiya Hospital, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.

المصدر: Bone reports [Bone Rep] 2022 Nov 10; Vol. 17, pp. 101637. Date of Electronic Publication: 2022 Nov 10 (Print Publication: 2022).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101646176 Publication Model: eCollection Cited Medium: Print ISSN: 2352-1872 (Print) Linking ISSN: 23521872 NLM ISO Abbreviation: Bone Rep Subsets: PubMed not MEDLINE

المؤلفون: Funghini S; Newborn Screening, Biochemical & Pharmacology Lab, Clinic of Paediatric Neurology, A. Meyer Children's Hospital, Firenze, Italy., Tonin R; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Firenze, Italy., Malvagia S; Newborn Screening, Biochemical & Pharmacology Lab, Clinic of Paediatric Neurology, A. Meyer Children's Hospital, Firenze, Italy., Caciotti A; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Firenze, Italy., Donati MA; Metabolic and Muscular Unit, Meyer Childrens' Hospital, Firenze, Italy., Morrone A; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Firenze, Italy.; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy., la Marca G; Newborn Screening, Biochemical & Pharmacology Lab, Clinic of Paediatric Neurology, A. Meyer Children's Hospital, Firenze, Italy.; Department of Experimental Clinical and Biomedical Sciences, University of Florence, Firenze, Italy.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Dec 05; Vol. 25, pp. 100689. Date of Electronic Publication: 2020 Dec 05 (Print Publication: 2020).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE