المؤلفون: Best S., Jayasinghe K., Wardrop L., Goranitis I., Martyn M., Mallett A.J., Quinlan C., Stark Z., Patel C., Mallawaarachchi A., McCarthy H., Faull R., Chakera A., Sundaram M., Jose M., Kerr P., Wu Y.

مصطلحات الفهرس: family history, family planning, follow up, genetic counseling, genetic disorder/di [Diagnosis], genetic disorder/dm [Disease Management], genetic screening, genomics, health care delivery, hematuria, cost effectiveness analysis, human, hypertension, kidney biopsy, kidney disease/di [Diagnosis], kidney disease/dm [Disease Management], medical ethics, molecular diagnosis, multidisciplinary team, observational study, patient preference, patient-reported outcome, Pediatric Quality of Life Inventory, phenotype, private health insurance, prospective study, proteinuria, hope, diagnostic value, economic evaluation, expectation, Willingness To Pay, article, Australian, clinical article, clinical evaluation, clinical outcome, cohort analysis, comorbidity, copy number variation, cost benefit analysis, Sanger sequencing, Short Form 12, ultrasound, whole genome sequencing, Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/35607
BMJ Open
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المؤلفون: Best S., Jayasinghe K., Wardrop L., Goranitis I., Martyn M., Mallett A.J., Quinlan C., Stark Z., Patel C., Mallawaarachchi A., McCarthy H., Faull R., Chakera A., Sundaram M., Jose M., Kerr P., Wu Y.

مصطلحات الفهرس: family history, family planning, follow up, genetic counseling, genetic disorder/di [Diagnosis], genetic disorder/dm [Disease Management], genetic screening, genomics, health care delivery, hematuria, cost effectiveness analysis, human, hypertension, kidney biopsy, kidney disease/di [Diagnosis], kidney disease/dm [Disease Management], medical ethics, molecular diagnosis, multidisciplinary team, observational study, patient preference, patient-reported outcome, Pediatric Quality of Life Inventory, phenotype, private health insurance, prospective study, proteinuria, hope, diagnostic value, economic evaluation, expectation, Willingness To Pay, article, Australian, clinical article, clinical evaluation, clinical outcome, cohort analysis, comorbidity, copy number variation, cost benefit analysis, Sanger sequencing, Short Form 12, ultrasound, whole genome sequencing, Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/35607
BMJ Open
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المؤلفون: Forni G.L., Caforio P., Pinto V., Pignataro P., Radhakrishnan K., Unal S., Tomaiuolo G., Iolascon A., Russo R., Andolfo I., Manna F., Gambale A., Marra R., Rosato B.E.

مصطلحات الفهرس: hereditary anemia/di [Diagnosis], Blackfan Diamond anemia/di [Diagnosis], Blackfan Diamond anemia/et [Etiology], brain disease, child, clinical feature, cohort analysis, congenital dyserythropoietic anemia/cn [Congenital Disorder], congenital dyserythropoietic anemia/di [Diagnosis], controlled study, diagnostic procedure, diagnostic value, disease association, disease severity, epilepsy, family, female, gene, gene mutation, genetic analysis, genetic disorder/cn [Congenital Disorder], genetic disorder/di [Diagnosis], genetic disorder/et [Etiology], genotype, hemolytic anemia/cn [Congenital Disorder], hemolytic anemia/di [Diagnosis], hemolytic anemia/et [Etiology], hereditary spherocytosis/cn [Congenital Disorder], hereditary spherocytosis/di [Diagnosis], hereditary spherocytosis/et [Etiology], high throughput sequencing, homozygote, human, infant, inheritance, iron overload/co [Complication], major clinical study, male, patient care, phenotype, preschool child, priority journal, school child, stomatocytosis/cn [Congenital Disorder], stomatocytosis/di [Diagnosis], stomatocytosis/et [Etiology], genomic DNA/ec [Endogenous Compound], CAD gene, hereditary anemia/cn [Congenital Disorder], hereditary anemia/et [Etiology], infantile epileptic encephalopathy, piezo1 gene, PKLR gene, SEC23B gene, adolescent, anemia/cn [Congenital Disorder], anemia/di [Diagnosis], anemia/et [Etiology], article, Blackfan Diamond anemia/cn [Congenital Disorder], Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/37000
American Journal of Hematology
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المؤلفون: Forni G.L., Caforio P., Pinto V., Pignataro P., Radhakrishnan K., Unal S., Tomaiuolo G., Iolascon A., Russo R., Andolfo I., Manna F., Gambale A., Marra R., Rosato B.E.

مصطلحات الفهرس: hereditary anemia/di [Diagnosis], Blackfan Diamond anemia/di [Diagnosis], Blackfan Diamond anemia/et [Etiology], brain disease, child, clinical feature, cohort analysis, congenital dyserythropoietic anemia/cn [Congenital Disorder], congenital dyserythropoietic anemia/di [Diagnosis], controlled study, diagnostic procedure, diagnostic value, disease association, disease severity, epilepsy, family, female, gene, gene mutation, genetic analysis, genetic disorder/cn [Congenital Disorder], genetic disorder/di [Diagnosis], genetic disorder/et [Etiology], genotype, hemolytic anemia/cn [Congenital Disorder], hemolytic anemia/di [Diagnosis], hemolytic anemia/et [Etiology], hereditary spherocytosis/cn [Congenital Disorder], hereditary spherocytosis/di [Diagnosis], hereditary spherocytosis/et [Etiology], high throughput sequencing, homozygote, human, infant, inheritance, iron overload/co [Complication], major clinical study, male, patient care, phenotype, preschool child, priority journal, school child, stomatocytosis/cn [Congenital Disorder], stomatocytosis/di [Diagnosis], stomatocytosis/et [Etiology], genomic DNA/ec [Endogenous Compound], CAD gene, hereditary anemia/cn [Congenital Disorder], hereditary anemia/et [Etiology], infantile epileptic encephalopathy, piezo1 gene, PKLR gene, SEC23B gene, adolescent, anemia/cn [Congenital Disorder], anemia/di [Diagnosis], anemia/et [Etiology], article, Blackfan Diamond anemia/cn [Congenital Disorder], Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/37000
American Journal of Hematology
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المؤلفون: Cook M.J., Seneviratne U., D'Souza W.J.

مصطلحات الفهرس: frontal lobe epilepsy/di [Diagnosis], functional magnetic resonance imaging, generalized epilepsy/di [Diagnosis], genetic disorder/di [Diagnosis], human, hyperventilation, magnetoencephalography, myoclonus epilepsy/di [Diagnosis], myoclonus seizure/di [Diagnosis], review, sleep, sleep deprivation, sleep spindle, spike wave, stroboscopy, transcranial magnetic stimulation, genetic generalized epilepsy/di [Diagnosis], tonic clonic seizure/di [Diagnosis], absence/di [Diagnosis], action potential amplitude, arousal, childhood absence epilepsy/di [Diagnosis], circadian rhythm, clinical feature, delta rhythm, diagnostic error, disease classification, EEG abnormality, electroencephalography, epileptic discharge, eye fixation, eyelid closure, focal epilepsy/di [Diagnosis], Review

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/38776
Frontiers in Neurology
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المؤلفون: Cook M.J., Seneviratne U., D'Souza W.J.

مصطلحات الفهرس: frontal lobe epilepsy/di [Diagnosis], functional magnetic resonance imaging, generalized epilepsy/di [Diagnosis], genetic disorder/di [Diagnosis], human, hyperventilation, magnetoencephalography, myoclonus epilepsy/di [Diagnosis], myoclonus seizure/di [Diagnosis], review, sleep, sleep deprivation, sleep spindle, spike wave, stroboscopy, transcranial magnetic stimulation, genetic generalized epilepsy/di [Diagnosis], tonic clonic seizure/di [Diagnosis], absence/di [Diagnosis], action potential amplitude, arousal, childhood absence epilepsy/di [Diagnosis], circadian rhythm, clinical feature, delta rhythm, diagnostic error, disease classification, EEG abnormality, electroencephalography, epileptic discharge, eye fixation, eyelid closure, focal epilepsy/di [Diagnosis], Review

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/38776
Frontiers in Neurology
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المؤلفون: Rogers M.A.

مصطلحات الفهرس: congenital disorder/di [Diagnosis], congenital disorder/et [Etiology], developmental disorder/di [Diagnosis], developmental disorder/et [Etiology], genetic disorder/cn [Congenital Disorder], genetic disorder/di [Diagnosis], genetic disorder/et [Etiology], human, lumbosacral spine, review, spinal cord disease/cn [Congenital Disorder], spinal cord disease/di [Diagnosis], spinal cord disease/et [Etiology], nuclear magnetic resonance imaging, cauda equina, cervical spine, Review

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/34480
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المؤلفون: Rogers M.A.

مصطلحات الفهرس: congenital disorder/di [Diagnosis], congenital disorder/et [Etiology], developmental disorder/di [Diagnosis], developmental disorder/et [Etiology], genetic disorder/cn [Congenital Disorder], genetic disorder/di [Diagnosis], genetic disorder/et [Etiology], human, lumbosacral spine, review, spinal cord disease/cn [Congenital Disorder], spinal cord disease/di [Diagnosis], spinal cord disease/et [Etiology], nuclear magnetic resonance imaging, cauda equina, cervical spine, Review

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/34480
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المؤلفون: McLachlan R.I., O'Bryan M.K.

مصطلحات الفهرس: genetic screening, genital malformation/cn [Congenital Disorder], genital malformation/di [Diagnosis], genotype, human, idiopathic disease, infertility therapy, intracytoplasmic sperm injection, karyotype, Klinefelter syndrome/di [Diagnosis], male infertility/et [Etiology], male infertility/th [Therapy], nonhuman, point mutation, polymerase chain reaction, priority journal, progeny, review, sperm, spermatogenesis, vas deferens, androgen receptor, DNA, transmembrane conductance regulator, male, aneuploidy, azoospermia, chromosome 7q, chromosome aberration/di [Diagnosis], chromosome deletion Y/di [Diagnosis], copy number variation, DNA damage, epigenetics, gene deletion, gene duplication, gene mutation, genetic analysis, genetic disorder/di [Diagnosis], Review

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/30490
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المؤلفون: McLachlan R.I., O'Bryan M.K.

مصطلحات الفهرس: genetic screening, genital malformation/cn [Congenital Disorder], genital malformation/di [Diagnosis], genotype, human, idiopathic disease, infertility therapy, intracytoplasmic sperm injection, karyotype, Klinefelter syndrome/di [Diagnosis], male infertility/et [Etiology], male infertility/th [Therapy], nonhuman, point mutation, polymerase chain reaction, priority journal, progeny, review, sperm, spermatogenesis, vas deferens, androgen receptor, DNA, transmembrane conductance regulator, male, aneuploidy, azoospermia, chromosome 7q, chromosome aberration/di [Diagnosis], chromosome deletion Y/di [Diagnosis], copy number variation, DNA damage, epigenetics, gene deletion, gene duplication, gene mutation, genetic analysis, genetic disorder/di [Diagnosis], Review

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/30490
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المؤلفون: Katz M.G., Fitzgerald L., Bankiel A., Savulescu J., Cram D.S.

مصطلحات الفهرس: priority journal, safety, sex determination, technology, uterus, human, aneuploidy/di [Diagnosis], article, controlled study, decision making, embryo transfer, female, fertilization in vitro, genetic analysis, genetic counseling, genetic disorder/di [Diagnosis], genetic screening, major clinical study, male, medical ethics, prenatal diagnosis, prenatal screening, Article

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المؤلفون: Katz M.G., Fitzgerald L., Bankiel A., Savulescu J., Cram D.S.

مصطلحات الفهرس: priority journal, safety, sex determination, technology, uterus, human, aneuploidy/di [Diagnosis], article, controlled study, decision making, embryo transfer, female, fertilization in vitro, genetic analysis, genetic counseling, genetic disorder/di [Diagnosis], genetic screening, major clinical study, male, medical ethics, prenatal diagnosis, prenatal screening, Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/32872
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