المؤلفون: Amin Awad, Douglas Little, Minnie Jacob, Mohamed S. Rashed, Mohamed Al-Amoudi, Martin P. Bucknall, Pinar T. Ozand, Mona Alwattar

المصدر: Clinical Chemistry. 43:1129-1141

مصطلحات موضوعية: Electrospray, Chromatography, Spots, Metabolite, Flagging, Biochemistry (medical), Clinical Biochemistry, Reference range, Tandem mass spectrometry, chemistry.chemical_compound, chemistry, Biochemistry, Batch processing, Sample preparation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fa6574d5999d078d6754fc7338cbe7a1
https://doi.org/10.1093/clinchem/43.7.1129

المؤلفون: Selwa A. F. Al-hazzaa, Pinar T. Ozand

المصدر: Ophthalmic Genetics. 18:93-99

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Biology, Peroxisomal Bifunctional Enzyme, Retina, Diagnosis, Differential, Peroxisomal Disorders, chemistry.chemical_compound, Multienzyme Complexes, Internal medicine, Peroxisomal disorder, medicine, Bile, Humans, Eye Abnormalities, Isomerases, Zellweger Syndrome, Enoyl-CoA Hydratase, Beta oxidation, Genetics (clinical), chemistry.chemical_classification, Fatty acid metabolism, Fatty Acids, Infant, Newborn, 3-Hydroxyacyl CoA Dehydrogenases, Infant, Metabolism, Peroxisome, medicine.disease, Hypotonia, Ophthalmology, Endocrinology, Enzyme, chemistry, Biochemistry, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Female, medicine.symptom, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::800a91b4551603bf1ab9e870e7acac06
https://doi.org/10.3109/13816819709057121

المؤلفون: Mohamed S. Rashed, Martin P. Bucknall, Pinar T. Ozand, Douglas Little

المصدر: Pediatric Research. 38:324-331

مصطلحات موضوعية: chemistry.chemical_classification, Electrospray, Chemistry, Infant, Newborn, Methylmalonic acidemia, Metabolism, medicine.disease, Tandem mass spectrometry, Sensitivity and Specificity, Mass Spectrometry, Amino acid, Automation, Neonatal Screening, Biochemistry, Pediatrics, Perinatology and Child Health, medicine, Humans, Carnitine, Amino Acids, Propionic acidemia, Acetylcarnitine, Blood Chemical Analysis, Metabolism, Inborn Errors, medicine.drug, Organic acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65a04cd03500b3e0a6d43c1dc1d9606c
https://doi.org/10.1203/00006450-199509000-00009

المؤلفون: Piero Rinaldo, Mohamed S. Rashed, Jeffrey J. Barnard, Diddahally R. Govindaraju, Michael J. Bennett, Pinar T. Ozand

المصدر: Clinical Chemistry. 41:1109-1114

مصطلحات موضوعية: First episode, Postmortem Diagnosis, medicine.medical_specialty, Biochemistry (medical), Clinical Biochemistry, Physiology, Glutaryl-CoA dehydrogenase, Autopsy, Sudden infant death syndrome, Biology, Sudden death, Postmortem Changes, Endocrinology, Internal medicine, medicine, Beta oxidation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6b9118bb55d67a46b032c59ebcd91c6b
https://doi.org/10.1093/clinchem/41.8.1109

المؤلفون: Mohammed B. Dhalla, S. M. Hussain Qadri, Pinar T. Ozand, Sarvepalli B. Subramanyam

المصدر: The Indian Journal of Pediatrics. 57:717-721

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Saudi Arabia, Urine, High-performance liquid chromatography, Automated data, chemistry.chemical_compound, Maple Syrup Urine Disease, medicine, Humans, Derivatization, chemistry.chemical_classification, High rate, Chromatography, Plasma samples, business.industry, Maple syrup urine disease, Infant, Newborn, Infant, medicine.disease, Amino acid, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5641349fb5238427bc7db15ec0e5ea6
https://doi.org/10.1007/bf02728722

المؤلفون: Maha H, Daghestani, Pinar T, Ozand, Ahmed R, Al-Himadi, Ali N, Al-Odaib

المصدر: Saudi medical journal. 28(8)

مصطلحات موضوعية: Adult, Leptin, Case-Control Studies, Peptide Hormones, Saudi Arabia, Humans, Insulin, Female, Neuropeptide Y, Obesity, Overweight, Ghrelin, Body Mass Index

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::cb31af529e11ab29cd37dc867b183834
https://pubmed.ncbi.nlm.nih.gov/17676200

المؤلفون: Michael J. Aminoff, Joachim M. Baehring, Alexandru C. Barboi, Russell E. Bartt, Anita L. Belman, Eduardo Benarroch, Bruce O. Berg, Sanjay Bhatia, Brian A. Bianco, José Biller, Thomas P. Bleck, Bradley F. Boeve, Karen I. Bolla, Carsten G. Bönnemann, Derald E. Brackmann, James B. Brewer, Steven M. Bromley, Paul Brown, Jean Lud Cadet, Richard Camicioli, Mario S. Campero, Louis R. Caplan, Richard J. Caselli, José Luis Castillo, Gabriel Cea, Ronald D. Chervin, Kelvin L. Chou, Chin-Sang Chung, Thomas I. Cochrane, Bruce H. Cohen, Flavia B. Consens, Jeffrey L. Cummings, Cyrus K. Dastur, Hans Christoph Diener, Richard L. Doty, Paul Richard Dyken, Randolph W. Evans, Stanley Fahn, Scott H. Faro, Mark A. Ferrante, Steven K. Feske, Bruce L. Fetterman, Jeffrey J. Fletcher, Nancy Foldvary-Schaefer, Roy Freeman, Joseph H. Friedman, John D.E. Gabrieli, Steven L. Galetta, James Y. Garbern, Generoso G. Gascon, Jeffrey A. Golden, Leslie J. Gonzalez-Rothi, James Goodwin, Robert C. Griggs, Timothy C. Hain, John P. Hammerstad, Kenneth M. Heilman, Wayne A. Hening, Neal Hermanowicz, Beverly L. Hershey, Fred H. Hochberg, Stacy S. Horn, Joseph Jankovic, Todd J. Janus, Horacio Kaufmann, Laurence J. Kinsella, Thomas Klockgether, Robert A. Koenigsberg, Katie Kompoliti, William J. Kupsky, Peter A. LeWitt, Grant T. Liu, Betsy B. Love, Paul Maertens, Mirjana Maletic-Savatic, Mario F. Mendez, Matthew N. Meriggioli, Feroze B. Mohamed, Ziad S. Nasreddine, Barnett R. Nathan, Nancy J. Newman, John H. Noseworthy, John G. Nutt, Benjamin J. Osborne, Pinar T. Ozand, Istvan Pirko, Sashank Prasad, Alison R. Preston, Eudocia Quant, David E. Riley, Karen L. Roos, Michael Rose, Allyson C. Rosen, Julie Rowin, Robert W. Shields, Nailah Siddique, Teepu Siddique, Todd L. Siegal, Stephen D. Silberstein, Glenn T. Stebbins, Suzanne Stevens, Scott Stickles, Robert Sufit, Lt. Col. Margaret M. Swanberg, Dagmar Timmann, Jordan L. Topel, Fong Y. Tsai, Chandan J. Vaidya, Renato J. Verdugo, Robert T. Watson, Jack E. Wilberger, Asa J. Wilbourn, Elaine Wyllie, William B. Young, W. K. Alfred Yung

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c3fc4e848864ee32ce1af5930dc600fa
https://doi.org/10.1016/b978-141603618-0.10057-8

المؤلفون: Pinar T. Ozand, Norah Al Dhoyan, Amal I Al Hemidan

المصدر: Ophthalmic genetics. 27(3)

مصطلحات موضوعية: Male, Intraocular pressure, medicine.medical_specialty, Visual acuity, genetic structures, Adolescent, Eye Diseases, Hypoparathyroidism, Developmental Disabilities, Microphthalmia, Ophthalmoscopy, Craniofacial Abnormalities, Retinal Diseases, Ophthalmology, Intellectual Disability, medicine, Humans, Microphthalmos, Child, Genetics (clinical), Retinoscopy, Intraocular Pressure, medicine.diagnostic_test, business.industry, Astigmatism, Infant, Retinal Vessels, Syndrome, medicine.disease, eye diseases, Strabismus, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, sense organs, medicine.symptom, business, Exotropia, Esotropia, Orthoptic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab00de4881c884006c92205154aee49c
https://pubmed.ncbi.nlm.nih.gov/17050283

المؤلفون: Ali, Al-Odaib, Mohamed, Rashed, Theodore, Page, William, Nyhan, Pinar T, Ozand

المصدر: Saudi medical journal. 27(5)

مصطلحات موضوعية: Consanguinity, Carbon-Carbon Ligases, Humans, Infant, Female, Age of Onset, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::495cb832f211c7055d48a88b72810bbc
https://pubmed.ncbi.nlm.nih.gov/16680273

المؤلفون: Pinar T. Ozand, Ali Al-Odaib, Hania Merza, Saleh Al Harbi

مصطلحات موضوعية: Neurology, Pediatrics, autism, clinical and genetic aspects of autism, intervention in autism pn03012

وصف الملف: 377758 bytes; application/pdf

Relation: Journal of Pediatric Neurology 1(2); http://bioline.utsc.utoronto.ca/archive/00000807/01/pn03012.pdf; http://hdl.handle.net/1807/1646

الاتاحة: http://hdl.handle.net/1807/1646
http://bioline.utsc.utoronto.ca/archive/00000807/01/pn03012.pdf

المؤلفون: Tammy Gillis, James S. Acierno, Marcy E. MacDonald, Eiman Al-Yamani, Wenqi Zeng, Pinar T. Ozand, Susan A. Slaugenhaupt, James F. Gusella

المصدر: American journal of human genetics. 77(1)

مصطلحات موضوعية: Male, medicine.medical_specialty, Encephalopathy, Biotin, Genes, Recessive, Biology, Basal Ganglia Diseases, Internal medicine, Basal ganglia, Genetics, medicine, Missense mutation, Humans, Genetics(clinical), Basal ganglia disease, Genetics (clinical), Dystonia, Base Sequence, Putamen, Membrane Transport Proteins, Articles, medicine.disease, Pedigree, Endocrinology, Chromosomes, Human, Pair 2, SLC19A3, Mutation, SLC19A2, biology.protein, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::041aa1c3aa040c3d002429305549a8e0
https://pubmed.ncbi.nlm.nih.gov/15871139

المؤلفون: Ali N, Al-Odaib, Khaled K, Abu-Amero, Pinar T, Ozand, Ali M, Al-Hellani

المصدر: Saudi medical journal. 24(11)

مصطلحات موضوعية: Adult, Consanguinity, Pregnancy, Risk Factors, Arabia, Genetic Diseases, Inborn, Infant, Newborn, Humans, Ethics, Medical, Female, Genetic Counseling, Genetic Testing, Preimplantation Diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2f1e40d67bd09c366f10f5b08333ec18
https://pubmed.ncbi.nlm.nih.gov/14647548

المؤلفون: Ali N. Al Odaib, Jalaluddin Bhuiyan, Pinar T. Ozand

المصدر: Clinica chimica acta; international journal of clinical chemistry. 335(1-2)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Adolescent, Clinical Biochemistry, Hepatosplenomegaly, Cardiomyopathy, Glycogen storage disease type III, Biochemistry, Gastroenterology, Diagnosis, Differential, Glycogen Storage Disease Type III, Internal medicine, medicine, Glycogen storage disease, Humans, Aspartate Aminotransferases, Myopathy, Child, Creatine Kinase, biology, business.industry, Biochemistry (medical), Alanine Transaminase, General Medicine, medicine.disease, Alanine transaminase, Liver, Inborn error of metabolism, Child, Preschool, biology.protein, Female, medicine.symptom, Differential diagnosis, business, Cardiomyopathies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::213093d70b1ac74bb699303a5aaddfaf
https://pubmed.ncbi.nlm.nih.gov/12927680

المؤلفون: Namik Kaya, Dilek Colak, Albandary Albakheet, Pinar T. Ozand

المصدر: Annals of Neurology. 72:822-823

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::73300c0c9858d56939f894ab62908ed3
https://doi.org/10.1002/ana.23752

المؤلفون: Hirofumi Doi, Michie Shimmoto, Kyoko Takiguchi, Hitoshi Sakuraba, Kohji Itoh, Pinar T Ozand

المصدر: Journal of human genetics. 45(4)

مصطلحات موضوعية: Models, Molecular, Mutant, Mutation, Missense, Cathepsin A, Glutamic Acid, Neuraminidase, Carboxypeptidases, Gene mutation, Crystallography, X-Ray, White People, Gene product, Protein structure, Genetics, medicine, Missense mutation, Humans, Child, Protein Structure, Quaternary, Genetics (clinical), Chemistry, Lysine, Wild type, medicine.disease, Blotting, Northern, beta-Galactosidase, Molecular biology, Immunohistochemistry, Biochemistry, Amino Acid Substitution, Female, Galactosialidosis, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::387f64c5da0f0c4482173df8ab1c05e1
https://pubmed.ncbi.nlm.nih.gov/10944848

المؤلفون: Pinar T. Ozand

المصدر: Principles of Perinatal—Neonatal Metabolism ISBN: 9781461272274

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Maple syrup urine disease, Galactosemia, Methylmalonic acidemia, Respiratory chain, Ammonia homeostasis, Disease, medicine.disease, medicine, Propionic acidemia, business, Immunodeficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::707a0866ef582cd9ce3d53d1395c9b07
https://doi.org/10.1007/978-1-4612-1642-1_53

المؤلفون: Manjula Waghray, Pinar T. Ozand, Sultan T. Al-Sedairy, Mohammed A. Hannan

المصدر: Human Genetics. 84

مصطلحات موضوعية: Heterozygote, medicine.medical_specialty, Cell, Biology, Cell Line, Ataxia Telangiectasia, Immunopathology, Genetics, medicine, Chromosomes, Human, Humans, Genetics (clinical), Chromosome Aberrations, Genetic Carrier Screening, Cytogenetics, Dose-Response Relationship, Radiation, Heterozygote advantage, Chromosome Fragility, medicine.disease, Molecular medicine, Molecular biology, Human genetics, medicine.anatomical_structure, Gamma Rays, Ataxia-telangiectasia, Immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cbcec0fda1324813806ab0413baa566
https://doi.org/10.1007/bf00210804

المؤلفون: Pinar T. Ozand, Generoso G. Gascon, Mohamed Rashed, Jan Brismar

المصدر: Brain and Development. 16:v

مصطلحات موضوعية: Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cfc394682398241c311431235dddab7a
https://doi.org/10.1016/0387-7604(94)90089-2

المؤلفون: Aida Al Aqeel, Pinar T. Ozand, Generoso G. Gascon

المصدر: Neurology. 42:704.2-704

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1f5d202b2e77fa7ac1a240edec95b07e
https://doi.org/10.1212/wnl.42.3.704-a

المؤلفون: Mohammed A. Hannan, Blake P. Smith, Pinar T. Ozand, Edward F. Rabe, Maged H. Amer, Mohammed Ashraf Ali, David Sigut

المصدر: Mutation Research Letters. 226:49-53

مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, DNA Repair, Cell Survival, DNA repair, Radiation Tolerance, Cell Line, Ataxia Telangiectasia, immune system diseases, hemic and lymphatic diseases, medicine, Humans, Radiosensitivity, Child, Fibroblast, Survival analysis, Aged, Skin, business.industry, Lymphoma, Non-Hodgkin, Heterozygote advantage, General Medicine, Fibroblasts, Middle Aged, medicine.disease, Lymphoma, Non-Hodgkin's lymphoma, medicine.anatomical_structure, Gamma Rays, Child, Preschool, Immunology, Ataxia-telangiectasia, Cancer research, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05e731c44965088bd6e8d3fc3996d274
https://doi.org/10.1016/0165-7992(89)90092-4