-
1دورية أكاديمية
المؤلفون: Claudine M Kraan, Kim M Cornish, Quang M Bui, Xin Li, Howard R Slater, David E Godler
المصدر: PLoS ONE, Vol 13, Iss 2, p e0192151 (2018)
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Dineika Chandrananda, Natalie P Thorne, Devika Ganesamoorthy, Damien L Bruno, Yuval Benjamini, Terence P Speed, Howard R Slater, Melanie Bahlo
المصدر: PLoS ONE, Vol 9, Iss 1, p e86993 (2014)
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Ryan N Traylor, Damien L Bruno, Trent Burgess, Robert Wildin, Anne Spencer, Devika Ganesamoorthy, David J Amor, Matthew Hunter, Michael Caplan, Jill A Rosenfeld, Aaron Theisen, Beth S Torchia, Lisa G Shaffer, Blake C Ballif, Howard R Slater
المصدر: PLoS ONE, Vol 5, Iss 8, p e12462 (2010)
وصف الملف: electronic resource
-
4
المؤلفون: Michael Field, Isabel Salas, Jonathan Cohen, David Francis, Carolyn Rogers, Justine Elliott, Lesley Bretherton, David E. Godler, Paulina Morales, Claudine Kraan, Bianca Curotto, Lorena Santa María, David J. Amor, Marta Arpone, Emma Baker, Víctor Faundes, Ling Ling, Matthew F. Hunter, Solange M. Aliaga, Minh Bui, Howard R. Slater, Kim Cornish, Cesar Trigo, Angelica M. Alliende
المصدر: Molecular Autism, Vol 10, Iss 1, Pp 1-13 (2019)
Molecular Autismمصطلحات موضوعية: Male, Autism, Intellectual disability, lcsh:RC346-429, Fragile X Mental Retardation Protein, 0302 clinical medicine, Borderline intellectual functioning, Young adult, 10. No inequality, Child, 0303 health sciences, Mosaicism, Age Factors, Wechsler Adult Intelligence Scale, Middle Aged, Fragile X syndrome, Psychiatry and Mental health, Phenotype, Child, Preschool, Female, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, 03 medical and health sciences, Young Adult, Developmental Neuroscience, Internal medicine, medicine, Humans, Gene Silencing, RNA, Messenger, Allele, Autistic Disorder, Molecular Biology, Alleles, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, business.industry, Research, Infant, medicine.disease, FMR1, Endocrinology, Mutation, business, 030217 neurology & neurosurgery, Developmental Biology, FMR1 mRNA
-
5
المؤلفون: Ralph Oertel, Louise Hills, Belinda J McClaren, Trent Burgess, Jonathan Cohen, Alison D Archibald, David Francis, Sylvia A Metcalfe, Megan Cotter, Melissa Martyn, Howard R. Slater
المصدر: American Journal of Medical Genetics Part A. 170:1439-1449
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Clinical audit, Pediatrics, medicine.medical_specialty, Adolescent, Victoria, Referral, Genetic counseling, Genetic Counseling, Fragile X Mental Retardation Protein, Young Adult, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Genetics, medicine, Humans, Genetic Testing, Practice Patterns, Physicians', Family history, Young adult, Child, Referral and Consultation, Alleles, Genetics (clinical), Genetic testing, Clinical Audit, medicine.diagnostic_test, business.industry, Age Factors, Disease Management, Infant, Middle Aged, medicine.disease, FMR1, Fragile X syndrome, 030104 developmental biology, Child, Preschool, Fragile X Syndrome, Mutation, Female, business
-
6
المؤلفون: Alison Skene, John B. Whitlam, John Kanellis, Howard R. Slater, Damien L. Bruno, Ling Ling, David A. Power, Francseco L. Ierino
المصدر: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons. 19(4)
مصطلحات موضوعية: Nephrology, Adult, Graft Rejection, Male, medicine.medical_specialty, Urology, 030230 surgery, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Biopsy, Immunology and Allergy, Medicine, Humans, Transplantation, Homologous, Pharmacology (medical), Prospective Studies, Prospective cohort study, Kidney transplantation, Transplantation, Kidney, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Kidney Transplantation, surgical procedures, operative, medicine.anatomical_structure, Cross-Sectional Studies, Cell-free fetal DNA, Biomarker (medicine), Female, business, Cell-Free Nucleic Acids, Immunosuppressive Agents
-
7
المؤلفون: Ingrid E. Scheffer, Amber Boys, Desirée du Sart, Howard R. Slater, Paul J. Lockhart, Kenneth A. Myers, Steven Nasioulas, Jacinta M McMahon
المصدر: Epilepsia. 59(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Locus (genetics), Epilepsies, Myoclonic, Haploinsufficiency, Receptors, G-Protein-Coupled, Cohort Studies, 03 medical and health sciences, Epilepsy, Intellectual Disability, medicine, Humans, Point Mutation, MEF2C, Chromosome 5q deletion syndrome, Generalized epilepsy, Child, Genetics, business.industry, MEF2 Transcription Factors, Point mutation, Calcium-Binding Proteins, RNA Polymerase III, Syndrome, medicine.disease, 030104 developmental biology, Neurology, Myoclonic epilepsy, Chromosomes, Human, Pair 5, Neurology (clinical), business
-
8
المؤلفون: Claudine M Kraan, Xin Li, Kim Cornish, David E. Godler, Quang M. Bui, Howard R. Slater
المصدر: PLoS ONE
PLoS ONE, Vol 13, Iss 2, p e0192151 (2018)مصطلحات موضوعية: 0301 basic medicine, Physiology, SDHA, lcsh:Medicine, Artificial Gene Amplification and Extension, Toxicology, Pathology and Laboratory Medicine, Biochemistry, Polymerase Chain Reaction, Fragile X Mental Retardation Protein, Mathematical and Statistical Techniques, Medicine and Health Sciences, lcsh:Science, Glucuronidase, education.field_of_study, Multidisciplinary, Messenger RNA, food and beverages, Confounding Factors, Epidemiologic, Body Fluids, Nucleic acids, Real-time polymerase chain reaction, Blood, Physical Sciences, Regression Analysis, RNA extraction, Anatomy, Statistics (Mathematics), Research Article, congenital, hereditary, and neonatal diseases and abnormalities, Nucleic acid synthesis, Population, Biology, Linear Regression Analysis, Real-Time Polymerase Chain Reaction, Research and Analysis Methods, Andrology, 03 medical and health sciences, Extraction techniques, Humans, RNA, Messenger, Chemical synthesis, Statistical Methods, RNA synthesis, education, Molecular Biology Techniques, Gene, Molecular Biology, Biology and life sciences, Toxicity, lcsh:R, fungi, RNA, Reverse Transcriptase-Polymerase Chain Reaction, FMR1, nervous system diseases, Biosynthetic techniques, 030104 developmental biology, lcsh:Q, Mathematics
-
9
المؤلفون: Damien L. Bruno, Sue Forrest, Alison Skene, Devika Ganesamoorthy, Howard R. Slater, Natalie P. Thorne, David A. Power, Ling Ling, Marieke Veenendaal, Frank L. Ierino, Marina Katerelos, Melanie Bahlo
المصدر: Clinical Chemistry. 60:1105-1114
مصطلحات موضوعية: Genetics, Massive parallel sequencing, DNA Copy Number Variations, Chimera, Base pair, Biochemistry (medical), Clinical Biochemistry, Reproducibility of Results, Biology, Y chromosome, Polymerase Chain Reaction, Molecular biology, DNA sequencing, law.invention, Real-time polymerase chain reaction, Cell-free fetal DNA, Limit of Detection, law, Humans, Human genome, Polymerase chain reaction
-
10
المؤلفون: Howard R. Slater, Minh Bui, David R Hessl, Andrea Schneider, Randi J Hagerman, David Francis, Danuta Z. Loesch, Trent Burgess, Eleanor Hammersley, Flora Tassone, Elsdon Storey, Paige Stimpson
المصدر: Clinical Genetics. 87:173-178
مصطلحات موضوعية: Genetics, Fmr1 gene, congenital, hereditary, and neonatal diseases and abnormalities, Fragile x, Psychological status, Cgg repeat, Allele, Biology, FMR1, Genetics (clinical), nervous system diseases