Works matching Genetic disorders
Results: 5000
Genetic Hair Disorders: A Review.
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- Dermatology & Therapy, 2019, v. 9, n. 3, p. 421, doi. 10.1007/s13555-019-0313-2
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- Article
Effectiveness of Structure Teaching Programme on Knowledge Regarding Genetic Disorders and Attitude Towards Preventive Measures for Genetic Disorders among Undergraduates at Higher Educational Institute.
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- Indian Journal of Public Health Research & Development, 2022, v. 13, n. 3, p. 13, doi. 10.37506/ijphrd.v13i3.18156
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- Article
MINOR CONGENITAL OCULAR ANOMALIES AS SOMATIC MARKERS IN GENETIC DISORDERS.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2020, v. 69, n. 4, p. 315, doi. 10.37897/RJP.2020.4.9
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- Article
An algorithm to identify patients aged 0–3 with rare genetic disorders.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03188-9
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- Publication type:
- Article
An Innovative Three-Stage Model for Prenatal Genetic Disorder Detection Based on Region-of-Interest in Fetal Ultrasound.
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- Bioengineering (Basel), 2023, v. 10, n. 7, p. 873, doi. 10.3390/bioengineering10070873
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- Article
Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study.
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- 2018
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- Publication type:
- journal article
Analysis of Attitude of Public Towards Prenatal Screening for Diagnosis of Genetic Disorders.
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- Egyptian Academic Journal of Biological Sciences. B, Zoology, 2023, v. 15, n. 1, p. 287, doi. 10.21608/EAJBSZ.2023.306575
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- Publication type:
- Article
GGDonto ontology as a knowledge-base for genetic diseases and disorders of glycan metabolism and their causative genes.
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- Journal of Biomedical Semantics, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13326-018-0182-0
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- Article
Obstructing Sleep Apnea in Children with Genetic Disorders—A Special Need for Early Multidisciplinary Diagnosis and Treatment.
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- Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2156, doi. 10.3390/jcm10102156
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- Article
Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1051
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- Article
Diagnosis and referrals to physical therapy among caregivers of children with genetic disorders: a qualitative inquiry.
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- Disability & Rehabilitation, 2024, v. 46, n. 9, p. 1815, doi. 10.1080/09638288.2023.2206164
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- Article
Applications of comparative genomic hybridization in cancer and genetic disorders: a review article.
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- Tehran University Medical Journal, 2010, v. 68, n. 1, p. 1
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- Article
Genetic Disorders Associated with Metal Metabolism.
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- Cells (2073-4409), 2019, v. 8, n. 12, p. 1598, doi. 10.3390/cells8121598
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- Publication type:
- Article
Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats.
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- Selcuk Journal of Agriculture & Food Sciences / Selcuk Tarim ve Gida Bilimleri Dergisi, 2017, v. 31, n. 2, p. 82, doi. 10.15316/SJAFS.2017.23
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- Article
Predicting Genetic Disorder and Types of Disorder Using Chain Classifier Approach.
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- Genes, 2023, v. 14, n. 1, p. 71, doi. 10.3390/genes14010071
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- Article
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
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- Genes, 2021, v. 12, n. 10, p. 1518, doi. 10.3390/genes12101518
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- Article
Biomarkers for genome instability in some genetic disorders: a pilot study.
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- Biomarkers, 2012, v. 17, n. 3, p. 201, doi. 10.3109/1354750X.2011.651157
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- Article
Survey of prenatal testing for genetic disorders in Japan: Recent report.
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- Journal of Obstetrics & Gynaecology Research, 2016, v. 42, n. 4, p. 375, doi. 10.1111/jog.12948
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- Article
Mental Health of Mothers of Children with Neurodevelopmental and Genetic Disorders in Pakistan.
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- Behavioral Sciences (2076-328X), 2022, v. 12, n. 6, p. 161, doi. 10.3390/bs12060161
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- Publication type:
- Article
Mating practices and the dissemination of genetic disorders in domestic animals, based on the example of dog breeding.
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- Animal Genetics, 2011, v. 42, n. 1, p. 66, doi. 10.1111/j.1365-2052.2010.02079.x
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- Article
Exploring the role of non‐canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.
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- Clinical Genetics, 2024, v. 106, n. 6, p. 750, doi. 10.1111/cge.14604
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- Article
Attitudes antecedent to transition to self-management of a chronic genetic disorder.
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- Clinical Genetics, 2008, v. 74, n. 4, p. 325, doi. 10.1111/j.1399-0004.2008.01052.x
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- Article
Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study.
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- Human Reproduction, 2023, v. 38, n. 6, p. 1224, doi. 10.1093/humrep/dead066
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- Article
Exploring The Potential Of Gene Therapy In Treating Genetic Disorders.
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- Journal of Namibian Studies, 2023, v. 36, p. 67
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- Publication type:
- Article
Tulburările din spectrul autist asociate cu bolile genetice. Sindromul Kleefstra.
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- Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2023, v. 29, n. 2, p. 63
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- Article
Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran.
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- Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00635-5
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- Article
Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran.
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- Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00635-5
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- Publication type:
- Article
The Role of Cell-Free Fetal DNA as a Preventative Attempt to Decrease the Severity of Genetic Disorders: A Review.
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- Medico-Legal Update, 2021, v. 21, n. 2, p. 18, doi. 10.37506/mlu.v21i2.2638
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- Publication type:
- Article
Inter-Species Rescue of Mutant Phenotype—The Standard for Genetic Analysis of Human Genetic Disorders in Drosophila melanogaster Model.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2613, doi. 10.3390/ijms23052613
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- Article
Detection of Morphological Abnormalities in Schizophrenia: An Important Step to Identify Associated Genetic Disorders or Etiologic Subtypes.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9464, doi. 10.3390/ijms22179464
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- Article
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.725259
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- Article
Rare Genetic Disorders: Novel Treatment Strategies and Insights Into Human Biology.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.714764
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- Article
Profile of genetic disorders prevalent in northeast region of Cairo, Egypt.
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- Egyptian Journal of Medical Human Genetics, 2012, v. 13, n. 1, p. 45, doi. 10.1016/j.ejmhg.2011.10.002
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- Publication type:
- Article
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
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- Archives of Medical Science, 2023, v. 19, n. 3, p. 765, doi. 10.5114/aoms/145370
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- Article
Exploring how mothers of a child with a genetic disorder experience their couple relationship in a low socio‐economic setting.
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- Journal of Genetic Counseling, 2021, v. 30, n. 3, p. 885, doi. 10.1002/jgc4.1391
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- Article
Brief Report: Predictors of Parenting Stress Among Parents of Children With Biochemical Genetic Disorders.
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- Journal of Pediatric Psychology, 2004, v. 29, n. 7, p. 565, doi. 10.1093/jpepsy/jsh058
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- Publication type:
- Article
유전성 질환에서 차세대 염기서열 분석의 임상적 활 용 및 가족 검사를 위한 제언.
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- Journal of the Korean Medical Association / Taehan Uisa Hyophoe Chi, 2023, v. 66, n. 10, p. 613, doi. 10.5124/jkma.2023.66.10.613
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- Article
Full Mouth Rehabilitation In Genetic Disorder Patients-A Retrospective Study.
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- Turkish Online Journal of Qualitative Inquiry, 2021, v. 12, n. 5, p. 1985
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- Article
Hearing the lived experience of young women with a rare genetic disorder 22q11.2DS regarding integrated care.
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- 2017
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- Publication type:
- Abstract
The Impact of Syndromic Genetic Disorders on Medical Management and Mortality in Pediatric Hypertrophic Cardiomyopathy Patients.
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- Pediatric Cardiology, 2020, v. 41, n. 6, p. 1180, doi. 10.1007/s00246-020-02373-4
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- Publication type:
- Article
Test development, optimization and validation of a WGS pipeline for genetic disorders.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01495-x
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- Publication type:
- Article
Psychopathology in fragile X syndrome. Experience in a genetic disorders unit from a children and adolescent mental health center.
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- European Psychiatry, 2020, v. 63, p. S325
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- Publication type:
- Article
Radiological Aspects of Genetic Disorders with Adult-onset CNS Symptoms.
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- Neuroradiology Journal, 2011, v. 24, n. 1, p. 24, doi. 10.1177/197140091102400107
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- Publication type:
- Article
The health-care utilization and economic burden in patients with genetic skeletal disorders.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03102-3
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- Publication type:
- Article
Lethal genetic disorder in Poll Merino/Merino sheep in Australia.
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- Australian Veterinary Journal, 2011, v. 89, n. 7, p. 254, doi. 10.1111/j.1751-0813.2011.00789.x
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- Article
Promising therapeutic aspects in human genetic imprinting disorders.
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- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01369-6
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- Publication type:
- Article
Studying Interactions, Reactions, and Perceptions: Can Genetic Disorders Serve as Behavioral Proxies?
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- Journal of Autism & Developmental Disorders, 2004, v. 34, n. 1, p. 29, doi. 10.1023/B:JADD.0000018071.02942.00
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- Publication type:
- Article
Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review.
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- Clinical Genetics, 2023, v. 103, n. 5, p. 513, doi. 10.1111/cge.14313
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- Publication type:
- Article
The cytoplasmic peptide: N-glycanase (Ngly1)--basic science encounters a human genetic disorder.
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- Journal of Biochemistry, 2015, v. 157, n. 1, p. 23, doi. 10.1093/jb/mvu068
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- Publication type:
- Article
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.
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- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1245, doi. 10.1007/s10815-024-03057-1
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- Publication type:
- Article